Id |
Subject |
Object |
Predicate |
Lexical cue |
T565 |
13-25 |
JJ |
denotes |
Interallelic |
T566 |
26-41 |
NN |
denotes |
complementation |
T568 |
42-44 |
VBZ |
denotes |
is |
T567 |
45-52 |
VBN |
denotes |
defined |
T569 |
53-55 |
IN |
denotes |
as |
T570 |
56-59 |
DT |
denotes |
the |
T571 |
60-67 |
NN |
denotes |
ability |
T572 |
68-70 |
IN |
denotes |
of |
T573 |
71-74 |
CD |
denotes |
two |
T575 |
75-89 |
RB |
denotes |
differentially |
T576 |
90-97 |
VBN |
denotes |
mutated |
T574 |
98-105 |
NNS |
denotes |
alleles |
T577 |
106-108 |
TO |
denotes |
to |
T578 |
109-117 |
VB |
denotes |
function |
T579 |
118-124 |
RBR |
denotes |
better |
T580 |
125-133 |
RB |
denotes |
together |
T581 |
134-138 |
IN |
denotes |
than |
T583 |
139-145 |
DT |
denotes |
either |
T582 |
146-149 |
MD |
denotes |
can |
T584 |
150-152 |
IN |
denotes |
on |
T585 |
153-156 |
PRP$ |
denotes |
its |
T586 |
157-160 |
JJ |
denotes |
own |
T587 |
160-161 |
. |
denotes |
. |
T588 |
161-308 |
sentence |
denotes |
Despite its near universality in lower organisms [1], its potential to contribute to clinical heterogeneity in human disease is seldom considered. |
T589 |
162-169 |
IN |
denotes |
Despite |
T591 |
170-173 |
PRP$ |
denotes |
its |
T593 |
174-178 |
JJ |
denotes |
near |
T592 |
179-191 |
NN |
denotes |
universality |
T594 |
192-194 |
IN |
denotes |
in |
T595 |
195-200 |
JJR |
denotes |
lower |
T596 |
201-210 |
NNS |
denotes |
organisms |
T597 |
211-212 |
-LRB- |
denotes |
[ |
T598 |
212-213 |
CD |
denotes |
1 |
T599 |
213-214 |
-RRB- |
denotes |
] |
T600 |
214-216 |
, |
denotes |
, |
T601 |
216-219 |
PRP$ |
denotes |
its |
T602 |
220-229 |
NN |
denotes |
potential |
T603 |
230-232 |
TO |
denotes |
to |
T604 |
233-243 |
VB |
denotes |
contribute |
T605 |
244-246 |
IN |
denotes |
to |
T606 |
247-255 |
JJ |
denotes |
clinical |
T607 |
256-269 |
NN |
denotes |
heterogeneity |
T608 |
270-272 |
IN |
denotes |
in |
T609 |
273-278 |
JJ |
denotes |
human |
T610 |
279-286 |
NN |
denotes |
disease |
T611 |
287-289 |
VBZ |
denotes |
is |
T612 |
290-296 |
RB |
denotes |
seldom |
T590 |
297-307 |
VBN |
denotes |
considered |
T613 |
307-308 |
. |
denotes |
. |
T614 |
308-636 |
sentence |
denotes |
Evidence of interallelic complementation at clinically relevant loci is limited to biochemical and cell-based studies of a handful of metabolic disorders with defects in enzymes including propinyl-CoA carboxylase [2], argininosuccinate lyase [3], galactose-1-phosphate uridylyltransferase [4], and methylmalonyl CoA mutase [5]. |
T615 |
309-317 |
NN |
denotes |
Evidence |
T617 |
318-320 |
IN |
denotes |
of |
T618 |
321-333 |
JJ |
denotes |
interallelic |
T619 |
334-349 |
NN |
denotes |
complementation |
T620 |
350-352 |
IN |
denotes |
at |
T621 |
353-363 |
RB |
denotes |
clinically |
T622 |
364-372 |
JJ |
denotes |
relevant |
T623 |
373-377 |
NNS |
denotes |
loci |
T624 |
378-380 |
VBZ |
denotes |
is |
T616 |
381-388 |
VBN |
denotes |
limited |
T625 |
389-391 |
IN |
denotes |
to |
T626 |
392-403 |
JJ |
denotes |
biochemical |
T628 |
404-407 |
CC |
denotes |
and |
T629 |
408-412 |
NN |
denotes |
cell |
T631 |
412-413 |
HYPH |
denotes |
- |
T630 |
413-418 |
VBN |
denotes |
based |
T627 |
419-426 |
NNS |
denotes |
studies |
T632 |
427-429 |
IN |
denotes |
of |
T633 |
430-431 |
DT |
denotes |
a |
T634 |
432-439 |
NN |
denotes |
handful |
T635 |
440-442 |
IN |
denotes |
of |
T636 |
443-452 |
JJ |
denotes |
metabolic |
T637 |
453-462 |
NNS |
denotes |
disorders |
T638 |
463-467 |
IN |
denotes |
with |
T639 |
468-475 |
NNS |
denotes |
defects |
T640 |
476-478 |
IN |
denotes |
in |
T641 |
479-486 |
NNS |
denotes |
enzymes |
T642 |
487-496 |
VBG |
denotes |
including |
T643 |
497-505 |
NN |
denotes |
propinyl |
T645 |
505-506 |
HYPH |
denotes |
- |
T644 |
506-509 |
NN |
denotes |
CoA |
T646 |
510-521 |
NN |
denotes |
carboxylase |
T647 |
522-523 |
-LRB- |
denotes |
[ |
T648 |
523-524 |
CD |
denotes |
2 |
T649 |
524-525 |
-RRB- |
denotes |
] |
T650 |
525-527 |
, |
denotes |
, |
T651 |
527-544 |
NN |
denotes |
argininosuccinate |
T652 |
545-550 |
NN |
denotes |
lyase |
T653 |
551-552 |
-LRB- |
denotes |
[ |
T654 |
552-553 |
CD |
denotes |
3 |
T655 |
553-554 |
-RRB- |
denotes |
] |
T656 |
554-556 |
, |
denotes |
, |
T657 |
556-565 |
NN |
denotes |
galactose |
T659 |
565-566 |
HYPH |
denotes |
- |
T660 |
566-567 |
CD |
denotes |
1 |
T661 |
567-568 |
HYPH |
denotes |
- |
T658 |
568-577 |
NN |
denotes |
phosphate |
T662 |
578-597 |
NN |
denotes |
uridylyltransferase |
T663 |
598-599 |
-LRB- |
denotes |
[ |
T664 |
599-600 |
CD |
denotes |
4 |
T665 |
600-601 |
-RRB- |
denotes |
] |
T666 |
601-603 |
, |
denotes |
, |
T667 |
603-606 |
CC |
denotes |
and |
T668 |
607-620 |
NN |
denotes |
methylmalonyl |
T670 |
621-624 |
NN |
denotes |
CoA |
T669 |
625-631 |
NN |
denotes |
mutase |
T671 |
632-633 |
-LRB- |
denotes |
[ |
T672 |
633-634 |
CD |
denotes |
5 |
T673 |
634-635 |
-RRB- |
denotes |
] |
T674 |
635-636 |
. |
denotes |
. |
T675 |
636-731 |
sentence |
denotes |
Compound heterozygotes are individuals carrying two different mutant alleles of the same gene. |
T676 |
637-645 |
JJ |
denotes |
Compound |
T677 |
646-659 |
NNS |
denotes |
heterozygotes |
T678 |
660-663 |
VBP |
denotes |
are |
T679 |
664-675 |
NNS |
denotes |
individuals |
T680 |
676-684 |
VBG |
denotes |
carrying |
T681 |
685-688 |
CD |
denotes |
two |
T683 |
689-698 |
JJ |
denotes |
different |
T684 |
699-705 |
JJ |
denotes |
mutant |
T682 |
706-713 |
NNS |
denotes |
alleles |
T685 |
714-716 |
IN |
denotes |
of |
T686 |
717-720 |
DT |
denotes |
the |
T688 |
721-725 |
JJ |
denotes |
same |
T687 |
726-730 |
NN |
denotes |
gene |
T689 |
730-731 |
. |
denotes |
. |
T690 |
731-960 |
sentence |
denotes |
In the absence of a dominant (wild-type [wt]) allele, genetic interactions between recessive alleles (referred to here as “biallelic” effects) could result in different phenotypic outcomes including interallelic complementation. |
T691 |
732-734 |
IN |
denotes |
In |
T693 |
735-738 |
DT |
denotes |
the |
T694 |
739-746 |
NN |
denotes |
absence |
T695 |
747-749 |
IN |
denotes |
of |
T696 |
750-751 |
DT |
denotes |
a |
T698 |
752-760 |
JJ |
denotes |
dominant |
T699 |
761-762 |
-LRB- |
denotes |
( |
T700 |
762-766 |
JJ |
denotes |
wild |
T702 |
766-767 |
HYPH |
denotes |
- |
T701 |
767-771 |
NN |
denotes |
type |
T703 |
772-773 |
-LRB- |
denotes |
[ |
T704 |
773-775 |
NN |
denotes |
wt |
T705 |
775-776 |
-RRB- |
denotes |
] |
T706 |
776-777 |
-RRB- |
denotes |
) |
T697 |
778-784 |
NN |
denotes |
allele |
T707 |
784-786 |
, |
denotes |
, |
T708 |
786-793 |
JJ |
denotes |
genetic |
T709 |
794-806 |
NNS |
denotes |
interactions |
T710 |
807-814 |
IN |
denotes |
between |
T711 |
815-824 |
JJ |
denotes |
recessive |
T712 |
825-832 |
NNS |
denotes |
alleles |
T713 |
833-834 |
-LRB- |
denotes |
( |
T714 |
834-842 |
VBN |
denotes |
referred |
T715 |
843-845 |
IN |
denotes |
to |
T716 |
846-850 |
RB |
denotes |
here |
T717 |
851-853 |
IN |
denotes |
as |
T718 |
854-855 |
`` |
denotes |
“ |
T719 |
855-864 |
JJ |
denotes |
biallelic |
T721 |
864-865 |
'' |
denotes |
” |
T720 |
866-873 |
NNS |
denotes |
effects |
T722 |
873-874 |
-RRB- |
denotes |
) |
T723 |
875-880 |
MD |
denotes |
could |
T692 |
881-887 |
VB |
denotes |
result |
T724 |
888-890 |
IN |
denotes |
in |
T725 |
891-900 |
JJ |
denotes |
different |
T727 |
901-911 |
JJ |
denotes |
phenotypic |
T726 |
912-920 |
NNS |
denotes |
outcomes |
T728 |
921-930 |
VBG |
denotes |
including |
T729 |
931-943 |
JJ |
denotes |
interallelic |
T730 |
944-959 |
NN |
denotes |
complementation |
T731 |
959-960 |
. |
denotes |
. |
T732 |
960-1296 |
sentence |
denotes |
Although amelioration of disease symptoms by interallelic complementation would create an ascertainment bias in the clinic, the lack of evidence concerning interallelic complementation or other biallelic effects in human disease is likely caused by the difficulty in distinguishing such effects from environment and genetic background. |
T733 |
961-969 |
IN |
denotes |
Although |
T735 |
970-982 |
NN |
denotes |
amelioration |
T736 |
983-985 |
IN |
denotes |
of |
T737 |
986-993 |
NN |
denotes |
disease |
T738 |
994-1002 |
NNS |
denotes |
symptoms |
T739 |
1003-1005 |
IN |
denotes |
by |
T740 |
1006-1018 |
JJ |
denotes |
interallelic |
T741 |
1019-1034 |
NN |
denotes |
complementation |
T742 |
1035-1040 |
MD |
denotes |
would |
T734 |
1041-1047 |
VB |
denotes |
create |
T744 |
1048-1050 |
DT |
denotes |
an |
T746 |
1051-1064 |
NN |
denotes |
ascertainment |
T745 |
1065-1069 |
NN |
denotes |
bias |
T747 |
1070-1072 |
IN |
denotes |
in |
T748 |
1073-1076 |
DT |
denotes |
the |
T749 |
1077-1083 |
NN |
denotes |
clinic |
T750 |
1083-1085 |
, |
denotes |
, |
T751 |
1085-1088 |
DT |
denotes |
the |
T752 |
1089-1093 |
NN |
denotes |
lack |
T753 |
1094-1096 |
IN |
denotes |
of |
T754 |
1097-1105 |
NN |
denotes |
evidence |
T755 |
1106-1116 |
VBG |
denotes |
concerning |
T756 |
1117-1129 |
JJ |
denotes |
interallelic |
T757 |
1130-1145 |
NN |
denotes |
complementation |
T758 |
1146-1148 |
CC |
denotes |
or |
T759 |
1149-1154 |
JJ |
denotes |
other |
T761 |
1155-1164 |
JJ |
denotes |
biallelic |
T760 |
1165-1172 |
NNS |
denotes |
effects |
T762 |
1173-1175 |
IN |
denotes |
in |
T763 |
1176-1181 |
JJ |
denotes |
human |
T764 |
1182-1189 |
NN |
denotes |
disease |
T765 |
1190-1192 |
VBZ |
denotes |
is |
T766 |
1193-1199 |
RB |
denotes |
likely |
T743 |
1200-1206 |
VBN |
denotes |
caused |
T767 |
1207-1209 |
IN |
denotes |
by |
T768 |
1210-1213 |
DT |
denotes |
the |
T769 |
1214-1224 |
NN |
denotes |
difficulty |
T770 |
1225-1227 |
IN |
denotes |
in |
T771 |
1228-1242 |
VBG |
denotes |
distinguishing |
T772 |
1243-1247 |
JJ |
denotes |
such |
T773 |
1248-1255 |
NNS |
denotes |
effects |
T774 |
1256-1260 |
IN |
denotes |
from |
T775 |
1261-1272 |
NN |
denotes |
environment |
T776 |
1273-1276 |
CC |
denotes |
and |
T777 |
1277-1284 |
JJ |
denotes |
genetic |
T778 |
1285-1295 |
NN |
denotes |
background |
T779 |
1295-1296 |
. |
denotes |
. |
T780 |
1296-1597 |
sentence |
denotes |
XPD encodes one of the two helicase components of basal transcription/DNA repair factor IIH (TFIIH), a ten-subunit, multifunctional complex that is essential for multiple processes, including basal transcription initiation and DNA damage repair via the nucleotide excision repair (NER) pathway [6,7]. |
T781 |
1297-1300 |
NN |
denotes |
XPD |
T782 |
1301-1308 |
VBZ |
denotes |
encodes |
T783 |
1309-1312 |
CD |
denotes |
one |
T784 |
1313-1315 |
IN |
denotes |
of |
T785 |
1316-1319 |
DT |
denotes |
the |
T787 |
1320-1323 |
CD |
denotes |
two |
T788 |
1324-1332 |
NN |
denotes |
helicase |
T786 |
1333-1343 |
NNS |
denotes |
components |
T789 |
1344-1346 |
IN |
denotes |
of |
T790 |
1347-1352 |
JJ |
denotes |
basal |
T792 |
1353-1366 |
NN |
denotes |
transcription |
T793 |
1366-1367 |
HYPH |
denotes |
/ |
T794 |
1367-1370 |
NN |
denotes |
DNA |
T795 |
1371-1377 |
NN |
denotes |
repair |
T796 |
1378-1384 |
NN |
denotes |
factor |
T791 |
1385-1388 |
NN |
denotes |
IIH |
T797 |
1389-1390 |
-LRB- |
denotes |
( |
T798 |
1390-1395 |
NN |
denotes |
TFIIH |
T799 |
1395-1396 |
-RRB- |
denotes |
) |
T800 |
1396-1398 |
, |
denotes |
, |
T801 |
1398-1399 |
DT |
denotes |
a |
T803 |
1400-1403 |
CD |
denotes |
ten |
T805 |
1403-1404 |
HYPH |
denotes |
- |
T804 |
1404-1411 |
NN |
denotes |
subunit |
T806 |
1411-1413 |
, |
denotes |
, |
T807 |
1413-1428 |
JJ |
denotes |
multifunctional |
T802 |
1429-1436 |
NN |
denotes |
complex |
T808 |
1437-1441 |
WDT |
denotes |
that |
T809 |
1442-1444 |
VBZ |
denotes |
is |
T810 |
1445-1454 |
JJ |
denotes |
essential |
T811 |
1455-1458 |
IN |
denotes |
for |
T812 |
1459-1467 |
JJ |
denotes |
multiple |
T813 |
1468-1477 |
NNS |
denotes |
processes |
T814 |
1477-1479 |
, |
denotes |
, |
T815 |
1479-1488 |
VBG |
denotes |
including |
T816 |
1489-1494 |
JJ |
denotes |
basal |
T818 |
1495-1508 |
NN |
denotes |
transcription |
T817 |
1509-1519 |
NN |
denotes |
initiation |
T819 |
1520-1523 |
CC |
denotes |
and |
T820 |
1524-1527 |
NN |
denotes |
DNA |
T822 |
1528-1534 |
NN |
denotes |
damage |
T821 |
1535-1541 |
NN |
denotes |
repair |
T823 |
1542-1545 |
IN |
denotes |
via |
T824 |
1546-1549 |
DT |
denotes |
the |
T826 |
1550-1560 |
NN |
denotes |
nucleotide |
T828 |
1561-1569 |
NN |
denotes |
excision |
T827 |
1570-1576 |
NN |
denotes |
repair |
T829 |
1577-1578 |
-LRB- |
denotes |
( |
T830 |
1578-1581 |
NN |
denotes |
NER |
T831 |
1581-1582 |
-RRB- |
denotes |
) |
T825 |
1583-1590 |
NN |
denotes |
pathway |
T832 |
1591-1592 |
-LRB- |
denotes |
[ |
T834 |
1592-1593 |
CD |
denotes |
6 |
T835 |
1593-1594 |
, |
denotes |
, |
T833 |
1594-1595 |
CD |
denotes |
7 |
T836 |
1595-1596 |
-RRB- |
denotes |
] |
T837 |
1596-1597 |
. |
denotes |
. |
T838 |
1597-1827 |
sentence |
denotes |
Alterations in XPD resulting in defective TFIIH function are associated with UV-sensitive, multisystem disorders including xeroderma pigmentosum (XP), XP combined with Cockayne syndrome (CS), and trichothiodystrophy (TTD) [8–10]. |
T839 |
1598-1609 |
NNS |
denotes |
Alterations |
T841 |
1610-1612 |
IN |
denotes |
in |
T842 |
1613-1616 |
NN |
denotes |
XPD |
T843 |
1617-1626 |
VBG |
denotes |
resulting |
T844 |
1627-1629 |
IN |
denotes |
in |
T845 |
1630-1639 |
JJ |
denotes |
defective |
T847 |
1640-1645 |
NN |
denotes |
TFIIH |
T846 |
1646-1654 |
NN |
denotes |
function |
T848 |
1655-1658 |
VBP |
denotes |
are |
T840 |
1659-1669 |
VBN |
denotes |
associated |
T849 |
1670-1674 |
IN |
denotes |
with |
T850 |
1675-1677 |
NN |
denotes |
UV |
T852 |
1677-1678 |
HYPH |
denotes |
- |
T851 |
1678-1687 |
JJ |
denotes |
sensitive |
T854 |
1687-1689 |
, |
denotes |
, |
T855 |
1689-1700 |
JJ |
denotes |
multisystem |
T853 |
1701-1710 |
NNS |
denotes |
disorders |
T856 |
1711-1720 |
VBG |
denotes |
including |
T857 |
1721-1730 |
NN |
denotes |
xeroderma |
T858 |
1731-1742 |
NN |
denotes |
pigmentosum |
T859 |
1743-1744 |
-LRB- |
denotes |
( |
T860 |
1744-1746 |
NN |
denotes |
XP |
T861 |
1746-1747 |
-RRB- |
denotes |
) |
T862 |
1747-1749 |
, |
denotes |
, |
T863 |
1749-1751 |
NN |
denotes |
XP |
T864 |
1752-1760 |
VBN |
denotes |
combined |
T865 |
1761-1765 |
IN |
denotes |
with |
T866 |
1766-1774 |
NN |
denotes |
Cockayne |
T867 |
1775-1783 |
NN |
denotes |
syndrome |
T868 |
1784-1785 |
-LRB- |
denotes |
( |
T869 |
1785-1787 |
NN |
denotes |
CS |
T870 |
1787-1788 |
-RRB- |
denotes |
) |
T871 |
1788-1790 |
, |
denotes |
, |
T872 |
1790-1793 |
CC |
denotes |
and |
T873 |
1794-1813 |
NN |
denotes |
trichothiodystrophy |
T874 |
1814-1815 |
-LRB- |
denotes |
( |
T875 |
1815-1818 |
NN |
denotes |
TTD |
T876 |
1818-1819 |
-RRB- |
denotes |
) |
T877 |
1820-1821 |
-LRB- |
denotes |
[ |
T878 |
1821-1822 |
CD |
denotes |
8 |
T879 |
1822-1823 |
SYM |
denotes |
– |
T880 |
1823-1825 |
CD |
denotes |
10 |
T881 |
1825-1826 |
-RRB- |
denotes |
] |
T882 |
1826-1827 |
. |
denotes |
. |
T883 |
1827-1939 |
sentence |
denotes |
XP is marked by sun-induced pigmentation anomalies and a greater than 1,000-fold elevation in skin cancer risk. |
T884 |
1828-1830 |
NN |
denotes |
XP |
T886 |
1831-1833 |
VBZ |
denotes |
is |
T885 |
1834-1840 |
VBN |
denotes |
marked |
T887 |
1841-1843 |
IN |
denotes |
by |
T888 |
1844-1847 |
NN |
denotes |
sun |
T890 |
1847-1848 |
HYPH |
denotes |
- |
T889 |
1848-1855 |
VBN |
denotes |
induced |
T892 |
1856-1868 |
NN |
denotes |
pigmentation |
T891 |
1869-1878 |
NNS |
denotes |
anomalies |
T893 |
1879-1882 |
CC |
denotes |
and |
T894 |
1883-1884 |
DT |
denotes |
a |
T896 |
1885-1892 |
JJR |
denotes |
greater |
T898 |
1893-1897 |
IN |
denotes |
than |
T897 |
1898-1903 |
CD |
denotes |
1,000 |
T900 |
1903-1904 |
HYPH |
denotes |
- |
T899 |
1904-1908 |
RB |
denotes |
fold |
T895 |
1909-1918 |
NN |
denotes |
elevation |
T901 |
1919-1921 |
IN |
denotes |
in |
T902 |
1922-1926 |
NN |
denotes |
skin |
T903 |
1927-1933 |
NN |
denotes |
cancer |
T904 |
1934-1938 |
NN |
denotes |
risk |
T905 |
1938-1939 |
. |
denotes |
. |
T906 |
1939-2029 |
sentence |
denotes |
Severe cases can also present with growth retardation and primary neurodegeneration [11]. |
T907 |
1940-1946 |
JJ |
denotes |
Severe |
T908 |
1947-1952 |
NNS |
denotes |
cases |
T910 |
1953-1956 |
MD |
denotes |
can |
T911 |
1957-1961 |
RB |
denotes |
also |
T909 |
1962-1969 |
VB |
denotes |
present |
T912 |
1970-1974 |
IN |
denotes |
with |
T913 |
1975-1981 |
NN |
denotes |
growth |
T914 |
1982-1993 |
NN |
denotes |
retardation |
T915 |
1994-1997 |
CC |
denotes |
and |
T916 |
1998-2005 |
JJ |
denotes |
primary |
T917 |
2006-2023 |
NN |
denotes |
neurodegeneration |
T918 |
2024-2025 |
-LRB- |
denotes |
[ |
T919 |
2025-2027 |
CD |
denotes |
11 |
T920 |
2027-2028 |
-RRB- |
denotes |
] |
T921 |
2028-2029 |
. |
denotes |
. |
T922 |
2029-2264 |
sentence |
denotes |
CS and TTD, on the other hand, are segmental progeroid disorders characterised by progressive post-natal growth failure and primary demyelination resulting in severe neurodysfunction, but without a clear cancer predisposition [12–15]. |
T923 |
2030-2032 |
NN |
denotes |
CS |
T925 |
2033-2036 |
CC |
denotes |
and |
T926 |
2037-2040 |
NN |
denotes |
TTD |
T927 |
2040-2042 |
, |
denotes |
, |
T928 |
2042-2044 |
IN |
denotes |
on |
T929 |
2045-2048 |
DT |
denotes |
the |
T931 |
2049-2054 |
JJ |
denotes |
other |
T930 |
2055-2059 |
NN |
denotes |
hand |
T932 |
2059-2061 |
, |
denotes |
, |
T924 |
2061-2064 |
VBP |
denotes |
are |
T933 |
2065-2074 |
JJ |
denotes |
segmental |
T935 |
2075-2084 |
JJ |
denotes |
progeroid |
T934 |
2085-2094 |
NNS |
denotes |
disorders |
T936 |
2095-2108 |
VBN |
denotes |
characterised |
T937 |
2109-2111 |
IN |
denotes |
by |
T938 |
2112-2123 |
JJ |
denotes |
progressive |
T940 |
2124-2134 |
JJ |
denotes |
post-natal |
T941 |
2135-2141 |
NN |
denotes |
growth |
T939 |
2142-2149 |
NN |
denotes |
failure |
T942 |
2150-2153 |
CC |
denotes |
and |
T943 |
2154-2161 |
JJ |
denotes |
primary |
T944 |
2162-2175 |
NN |
denotes |
demyelination |
T945 |
2176-2185 |
VBG |
denotes |
resulting |
T946 |
2186-2188 |
IN |
denotes |
in |
T947 |
2189-2195 |
JJ |
denotes |
severe |
T948 |
2196-2212 |
NN |
denotes |
neurodysfunction |
T949 |
2212-2214 |
, |
denotes |
, |
T950 |
2214-2217 |
CC |
denotes |
but |
T951 |
2218-2225 |
IN |
denotes |
without |
T952 |
2226-2227 |
DT |
denotes |
a |
T954 |
2228-2233 |
JJ |
denotes |
clear |
T955 |
2234-2240 |
NN |
denotes |
cancer |
T953 |
2241-2255 |
NN |
denotes |
predisposition |
T956 |
2256-2257 |
-LRB- |
denotes |
[ |
T957 |
2257-2259 |
CD |
denotes |
12 |
T958 |
2259-2260 |
SYM |
denotes |
– |
T959 |
2260-2262 |
CD |
denotes |
15 |
T960 |
2262-2263 |
-RRB- |
denotes |
] |
T961 |
2263-2264 |
. |
denotes |
. |
T962 |
2264-2452 |
sentence |
denotes |
Patients with TTD additionally display hallmark sulphur-deficient brittle hair and nails and scaling skin [13], resulting from a basal transcription defect in specific cell types [16,17]. |
T963 |
2265-2273 |
NNS |
denotes |
Patients |
T965 |
2274-2278 |
IN |
denotes |
with |
T966 |
2279-2282 |
NN |
denotes |
TTD |
T967 |
2283-2295 |
RB |
denotes |
additionally |
T964 |
2296-2303 |
VBP |
denotes |
display |
T968 |
2304-2312 |
NN |
denotes |
hallmark |
T970 |
2313-2320 |
NN |
denotes |
sulphur |
T972 |
2320-2321 |
HYPH |
denotes |
- |
T971 |
2321-2330 |
JJ |
denotes |
deficient |
T973 |
2331-2338 |
JJ |
denotes |
brittle |
T969 |
2339-2343 |
NN |
denotes |
hair |
T974 |
2344-2347 |
CC |
denotes |
and |
T975 |
2348-2353 |
NNS |
denotes |
nails |
T976 |
2354-2357 |
CC |
denotes |
and |
T977 |
2358-2365 |
JJ |
denotes |
scaling |
T978 |
2366-2370 |
NN |
denotes |
skin |
T979 |
2371-2372 |
-LRB- |
denotes |
[ |
T980 |
2372-2374 |
CD |
denotes |
13 |
T981 |
2374-2375 |
-RRB- |
denotes |
] |
T982 |
2375-2377 |
, |
denotes |
, |
T983 |
2377-2386 |
VBG |
denotes |
resulting |
T984 |
2387-2391 |
IN |
denotes |
from |
T985 |
2392-2393 |
DT |
denotes |
a |
T987 |
2394-2399 |
JJ |
denotes |
basal |
T988 |
2400-2413 |
NN |
denotes |
transcription |
T986 |
2414-2420 |
NN |
denotes |
defect |
T989 |
2421-2423 |
IN |
denotes |
in |
T990 |
2424-2432 |
JJ |
denotes |
specific |
T992 |
2433-2437 |
NN |
denotes |
cell |
T991 |
2438-2443 |
NNS |
denotes |
types |
T993 |
2444-2445 |
-LRB- |
denotes |
[ |
T995 |
2445-2447 |
CD |
denotes |
16 |
T996 |
2447-2448 |
, |
denotes |
, |
T994 |
2448-2450 |
CD |
denotes |
17 |
T997 |
2450-2451 |
-RRB- |
denotes |
] |
T998 |
2451-2452 |
. |
denotes |
. |
T999 |
2452-2618 |
sentence |
denotes |
A related disorder with the cancer predisposition of XP combined with the neurodevelopmental complications of CS (XPCS), although rare, has also been described [18]. |
T1000 |
2453-2454 |
DT |
denotes |
A |
T1002 |
2455-2462 |
JJ |
denotes |
related |
T1001 |
2463-2471 |
NN |
denotes |
disorder |
T1004 |
2472-2476 |
IN |
denotes |
with |
T1005 |
2477-2480 |
DT |
denotes |
the |
T1007 |
2481-2487 |
NN |
denotes |
cancer |
T1006 |
2488-2502 |
NN |
denotes |
predisposition |
T1008 |
2503-2505 |
IN |
denotes |
of |
T1009 |
2506-2508 |
NN |
denotes |
XP |
T1010 |
2509-2517 |
VBN |
denotes |
combined |
T1011 |
2518-2522 |
IN |
denotes |
with |
T1012 |
2523-2526 |
DT |
denotes |
the |
T1014 |
2527-2545 |
JJ |
denotes |
neurodevelopmental |
T1013 |
2546-2559 |
NNS |
denotes |
complications |
T1015 |
2560-2562 |
IN |
denotes |
of |
T1016 |
2563-2565 |
NN |
denotes |
CS |
T1017 |
2566-2567 |
-LRB- |
denotes |
( |
T1018 |
2567-2571 |
NN |
denotes |
XPCS |
T1019 |
2571-2572 |
-RRB- |
denotes |
) |
T1020 |
2572-2574 |
, |
denotes |
, |
T1021 |
2574-2582 |
IN |
denotes |
although |
T1022 |
2583-2587 |
JJ |
denotes |
rare |
T1023 |
2587-2589 |
, |
denotes |
, |
T1024 |
2589-2592 |
VBZ |
denotes |
has |
T1025 |
2593-2597 |
RB |
denotes |
also |
T1026 |
2598-2602 |
VBN |
denotes |
been |
T1003 |
2603-2612 |
VBN |
denotes |
described |
T1027 |
2613-2614 |
-LRB- |
denotes |
[ |
T1028 |
2614-2616 |
CD |
denotes |
18 |
T1029 |
2616-2617 |
-RRB- |
denotes |
] |
T1030 |
2617-2618 |
. |
denotes |
. |
T1031 |
2618-2800 |
sentence |
denotes |
Many XPD mutations are associated with an exclusive disease phenotype (e.g., XPDR722W with TTD and XPDR683W with XP) and are thus viewed as causative of the corresponding syndromes. |
T1032 |
2619-2623 |
JJ |
denotes |
Many |
T1034 |
2624-2627 |
NN |
denotes |
XPD |
T1033 |
2628-2637 |
NNS |
denotes |
mutations |
T1036 |
2638-2641 |
VBP |
denotes |
are |
T1035 |
2642-2652 |
VBN |
denotes |
associated |
T1037 |
2653-2657 |
IN |
denotes |
with |
T1038 |
2658-2660 |
DT |
denotes |
an |
T1040 |
2661-2670 |
JJ |
denotes |
exclusive |
T1041 |
2671-2678 |
NN |
denotes |
disease |
T1039 |
2679-2688 |
NN |
denotes |
phenotype |
T1042 |
2689-2690 |
-LRB- |
denotes |
( |
T1044 |
2690-2694 |
FW |
denotes |
e.g. |
T1045 |
2694-2696 |
, |
denotes |
, |
T1043 |
2696-2704 |
NN |
denotes |
XPDR722W |
T1046 |
2705-2709 |
IN |
denotes |
with |
T1047 |
2710-2713 |
NN |
denotes |
TTD |
T1048 |
2714-2717 |
CC |
denotes |
and |
T1049 |
2718-2726 |
NN |
denotes |
XPDR683W |
T1050 |
2727-2731 |
IN |
denotes |
with |
T1051 |
2732-2734 |
NN |
denotes |
XP |
T1052 |
2734-2735 |
-RRB- |
denotes |
) |
T1053 |
2736-2739 |
CC |
denotes |
and |
T1054 |
2740-2743 |
VBP |
denotes |
are |
T1056 |
2744-2748 |
RB |
denotes |
thus |
T1055 |
2749-2755 |
VBN |
denotes |
viewed |
T1057 |
2756-2758 |
IN |
denotes |
as |
T1058 |
2759-2768 |
JJ |
denotes |
causative |
T1059 |
2769-2771 |
IN |
denotes |
of |
T1060 |
2772-2775 |
DT |
denotes |
the |
T1062 |
2776-2789 |
VBG |
denotes |
corresponding |
T1061 |
2790-2799 |
NNS |
denotes |
syndromes |
T1063 |
2799-2800 |
. |
denotes |
. |
T1064 |
2800-2899 |
sentence |
denotes |
Alleles not associated exclusively with one disorder are considered “likely null” alleles [19,20]. |
T1065 |
2801-2808 |
NNS |
denotes |
Alleles |
T1067 |
2809-2812 |
RB |
denotes |
not |
T1068 |
2813-2823 |
VBN |
denotes |
associated |
T1069 |
2824-2835 |
RB |
denotes |
exclusively |
T1070 |
2836-2840 |
IN |
denotes |
with |
T1071 |
2841-2844 |
CD |
denotes |
one |
T1072 |
2845-2853 |
NN |
denotes |
disorder |
T1073 |
2854-2857 |
VBP |
denotes |
are |
T1066 |
2858-2868 |
VBN |
denotes |
considered |
T1074 |
2869-2870 |
`` |
denotes |
“ |
T1076 |
2870-2876 |
RB |
denotes |
likely |
T1077 |
2877-2881 |
JJ |
denotes |
null |
T1078 |
2881-2882 |
'' |
denotes |
” |
T1075 |
2883-2890 |
NNS |
denotes |
alleles |
T1079 |
2891-2892 |
-LRB- |
denotes |
[ |
T1081 |
2892-2894 |
CD |
denotes |
19 |
T1082 |
2894-2895 |
, |
denotes |
, |
T1080 |
2895-2897 |
CD |
denotes |
20 |
T1083 |
2897-2898 |
-RRB- |
denotes |
] |
T1084 |
2898-2899 |
. |
denotes |
. |
T1085 |
2899-3119 |
sentence |
denotes |
Some of these alleles fail to support viability in a haploid Schizosaccharomyces pombe yeast strain with a null mutation in the XPD homologue rad15 and are thus considered devoid of significant biological activity [19]. |
T1086 |
2900-2904 |
DT |
denotes |
Some |
T1088 |
2905-2907 |
IN |
denotes |
of |
T1089 |
2908-2913 |
DT |
denotes |
these |
T1090 |
2914-2921 |
NNS |
denotes |
alleles |
T1087 |
2922-2926 |
VBP |
denotes |
fail |
T1091 |
2927-2929 |
TO |
denotes |
to |
T1092 |
2930-2937 |
VB |
denotes |
support |
T1093 |
2938-2947 |
NN |
denotes |
viability |
T1094 |
2948-2950 |
IN |
denotes |
in |
T1095 |
2951-2952 |
DT |
denotes |
a |
T1097 |
2953-2960 |
JJ |
denotes |
haploid |
T1098 |
2961-2980 |
NNP |
denotes |
Schizosaccharomyces |
T1099 |
2981-2986 |
NNP |
denotes |
pombe |
T1100 |
2987-2992 |
NN |
denotes |
yeast |
T1096 |
2993-2999 |
NN |
denotes |
strain |
T1101 |
3000-3004 |
IN |
denotes |
with |
T1102 |
3005-3006 |
DT |
denotes |
a |
T1104 |
3007-3011 |
JJ |
denotes |
null |
T1103 |
3012-3020 |
NN |
denotes |
mutation |
T1105 |
3021-3023 |
IN |
denotes |
in |
T1106 |
3024-3027 |
DT |
denotes |
the |
T1108 |
3028-3031 |
NN |
denotes |
XPD |
T1109 |
3032-3041 |
NN |
denotes |
homologue |
T1107 |
3042-3047 |
NN |
denotes |
rad15 |
T1110 |
3048-3051 |
CC |
denotes |
and |
T1111 |
3052-3055 |
VBP |
denotes |
are |
T1113 |
3056-3060 |
RB |
denotes |
thus |
T1112 |
3061-3071 |
VBN |
denotes |
considered |
T1114 |
3072-3078 |
JJ |
denotes |
devoid |
T1115 |
3079-3081 |
IN |
denotes |
of |
T1116 |
3082-3093 |
JJ |
denotes |
significant |
T1118 |
3094-3104 |
JJ |
denotes |
biological |
T1117 |
3105-3113 |
NN |
denotes |
activity |
T1119 |
3114-3115 |
-LRB- |
denotes |
[ |
T1120 |
3115-3117 |
CD |
denotes |
19 |
T1121 |
3117-3118 |
-RRB- |
denotes |
] |
T1122 |
3118-3119 |
. |
denotes |
. |
T1123 |
3119-3257 |
sentence |
denotes |
This classification of alleles as either causative or null currently defines what we refer to as a “monoallelic” paradigm of XPD disease. |
T1124 |
3120-3124 |
DT |
denotes |
This |
T1125 |
3125-3139 |
NN |
denotes |
classification |
T1127 |
3140-3142 |
IN |
denotes |
of |
T1128 |
3143-3150 |
NNS |
denotes |
alleles |
T1129 |
3151-3153 |
IN |
denotes |
as |
T1130 |
3154-3160 |
CC |
denotes |
either |
T1131 |
3161-3170 |
JJ |
denotes |
causative |
T1132 |
3171-3173 |
CC |
denotes |
or |
T1133 |
3174-3178 |
JJ |
denotes |
null |
T1134 |
3179-3188 |
RB |
denotes |
currently |
T1126 |
3189-3196 |
VBZ |
denotes |
defines |
T1135 |
3197-3201 |
WP |
denotes |
what |
T1137 |
3202-3204 |
PRP |
denotes |
we |
T1136 |
3205-3210 |
VBP |
denotes |
refer |
T1138 |
3211-3213 |
IN |
denotes |
to |
T1139 |
3214-3216 |
IN |
denotes |
as |
T1140 |
3217-3218 |
DT |
denotes |
a |
T1142 |
3219-3220 |
`` |
denotes |
“ |
T1143 |
3220-3231 |
JJ |
denotes |
monoallelic |
T1144 |
3231-3232 |
'' |
denotes |
” |
T1141 |
3233-3241 |
NN |
denotes |
paradigm |
T1145 |
3242-3244 |
IN |
denotes |
of |
T1146 |
3245-3248 |
NN |
denotes |
XPD |
T1147 |
3249-3256 |
NN |
denotes |
disease |
T1148 |
3256-3257 |
. |
denotes |
. |
T1149 |
3257-3538 |
sentence |
denotes |
However, the identification in recent years of XP complementation group D patients with atypical disease presentation, including symptoms of both XP and TTD [8], casts doubt on the ability of such a monoallelic paradigm to explain clinical heterogeneity in compound heterozygotes. |
T1150 |
3258-3265 |
RB |
denotes |
However |
T1152 |
3265-3267 |
, |
denotes |
, |
T1153 |
3267-3270 |
DT |
denotes |
the |
T1154 |
3271-3285 |
NN |
denotes |
identification |
T1155 |
3286-3288 |
IN |
denotes |
in |
T1156 |
3289-3295 |
JJ |
denotes |
recent |
T1157 |
3296-3301 |
NNS |
denotes |
years |
T1158 |
3302-3304 |
IN |
denotes |
of |
T1159 |
3305-3307 |
NN |
denotes |
XP |
T1161 |
3308-3323 |
NN |
denotes |
complementation |
T1162 |
3324-3329 |
NN |
denotes |
group |
T1163 |
3330-3331 |
NN |
denotes |
D |
T1160 |
3332-3340 |
NNS |
denotes |
patients |
T1164 |
3341-3345 |
IN |
denotes |
with |
T1165 |
3346-3354 |
JJ |
denotes |
atypical |
T1167 |
3355-3362 |
NN |
denotes |
disease |
T1166 |
3363-3375 |
NN |
denotes |
presentation |
T1168 |
3375-3377 |
, |
denotes |
, |
T1169 |
3377-3386 |
VBG |
denotes |
including |
T1170 |
3387-3395 |
NNS |
denotes |
symptoms |
T1171 |
3396-3398 |
IN |
denotes |
of |
T1172 |
3399-3403 |
CC |
denotes |
both |
T1173 |
3404-3406 |
NN |
denotes |
XP |
T1174 |
3407-3410 |
CC |
denotes |
and |
T1175 |
3411-3414 |
NN |
denotes |
TTD |
T1176 |
3415-3416 |
-LRB- |
denotes |
[ |
T1177 |
3416-3417 |
CD |
denotes |
8 |
T1178 |
3417-3418 |
-RRB- |
denotes |
] |
T1179 |
3418-3420 |
, |
denotes |
, |
T1151 |
3420-3425 |
VBZ |
denotes |
casts |
T1180 |
3426-3431 |
NN |
denotes |
doubt |
T1181 |
3432-3434 |
IN |
denotes |
on |
T1182 |
3435-3438 |
DT |
denotes |
the |
T1183 |
3439-3446 |
NN |
denotes |
ability |
T1184 |
3447-3449 |
IN |
denotes |
of |
T1185 |
3450-3454 |
JJ |
denotes |
such |
T1187 |
3455-3456 |
DT |
denotes |
a |
T1188 |
3457-3468 |
JJ |
denotes |
monoallelic |
T1186 |
3469-3477 |
NN |
denotes |
paradigm |
T1189 |
3478-3480 |
TO |
denotes |
to |
T1190 |
3481-3488 |
VB |
denotes |
explain |
T1191 |
3489-3497 |
JJ |
denotes |
clinical |
T1192 |
3498-3511 |
NN |
denotes |
heterogeneity |
T1193 |
3512-3514 |
IN |
denotes |
in |
T1194 |
3515-3523 |
NN |
denotes |
compound |
T1195 |
3524-3537 |
NNS |
denotes |
heterozygotes |
T1196 |
3537-3538 |
. |
denotes |
. |
T1197 |
3538-3637 |
sentence |
denotes |
Previously, we generated a TTD mouse model (XPDR722W) that phenocopies the human syndrome [15,21]. |
T1198 |
3539-3549 |
RB |
denotes |
Previously |
T1200 |
3549-3551 |
, |
denotes |
, |
T1201 |
3551-3553 |
PRP |
denotes |
we |
T1199 |
3554-3563 |
VBD |
denotes |
generated |
T1202 |
3564-3565 |
DT |
denotes |
a |
T1204 |
3566-3569 |
NN |
denotes |
TTD |
T1205 |
3570-3575 |
NN |
denotes |
mouse |
T1203 |
3576-3581 |
NN |
denotes |
model |
T1206 |
3582-3583 |
-LRB- |
denotes |
( |
T1207 |
3583-3591 |
NN |
denotes |
XPDR722W |
T1208 |
3591-3592 |
-RRB- |
denotes |
) |
T1209 |
3593-3597 |
WDT |
denotes |
that |
T1210 |
3598-3609 |
VBZ |
denotes |
phenocopies |
T1211 |
3610-3613 |
DT |
denotes |
the |
T1213 |
3614-3619 |
JJ |
denotes |
human |
T1212 |
3620-3628 |
NN |
denotes |
syndrome |
T1214 |
3629-3630 |
-LRB- |
denotes |
[ |
T1216 |
3630-3632 |
CD |
denotes |
15 |
T1217 |
3632-3633 |
, |
denotes |
, |
T1215 |
3633-3635 |
CD |
denotes |
21 |
T1218 |
3635-3636 |
-RRB- |
denotes |
] |
T1219 |
3636-3637 |
. |
denotes |
. |
T1220 |
3637-3928 |
sentence |
denotes |
Here we report the generation of additional mutant Xpd alleles that fail to support viability on their own but nevertheless ameliorate TTD-associated premature segmental ageing, cutaneous features, cellular DNA repair capacity, and UV survival when present in a compound heterozygote state. |
T1221 |
3638-3642 |
RB |
denotes |
Here |
T1223 |
3643-3645 |
PRP |
denotes |
we |
T1222 |
3646-3652 |
VBP |
denotes |
report |
T1224 |
3653-3656 |
DT |
denotes |
the |
T1225 |
3657-3667 |
NN |
denotes |
generation |
T1226 |
3668-3670 |
IN |
denotes |
of |
T1227 |
3671-3681 |
JJ |
denotes |
additional |
T1229 |
3682-3688 |
JJ |
denotes |
mutant |
T1230 |
3689-3692 |
NN |
denotes |
Xpd |
T1228 |
3693-3700 |
NNS |
denotes |
alleles |
T1231 |
3701-3705 |
WDT |
denotes |
that |
T1232 |
3706-3710 |
VBP |
denotes |
fail |
T1233 |
3711-3713 |
TO |
denotes |
to |
T1234 |
3714-3721 |
VB |
denotes |
support |
T1235 |
3722-3731 |
NN |
denotes |
viability |
T1236 |
3732-3734 |
IN |
denotes |
on |
T1237 |
3735-3740 |
PRP$ |
denotes |
their |
T1238 |
3741-3744 |
NN |
denotes |
own |
T1239 |
3745-3748 |
CC |
denotes |
but |
T1240 |
3749-3761 |
RB |
denotes |
nevertheless |
T1241 |
3762-3772 |
VBP |
denotes |
ameliorate |
T1242 |
3773-3776 |
NN |
denotes |
TTD |
T1244 |
3776-3777 |
HYPH |
denotes |
- |
T1243 |
3777-3787 |
VBN |
denotes |
associated |
T1246 |
3788-3797 |
JJ |
denotes |
premature |
T1247 |
3798-3807 |
JJ |
denotes |
segmental |
T1245 |
3808-3814 |
NN |
denotes |
ageing |
T1248 |
3814-3816 |
, |
denotes |
, |
T1249 |
3816-3825 |
JJ |
denotes |
cutaneous |
T1250 |
3826-3834 |
NNS |
denotes |
features |
T1251 |
3834-3836 |
, |
denotes |
, |
T1252 |
3836-3844 |
JJ |
denotes |
cellular |
T1254 |
3845-3848 |
NN |
denotes |
DNA |
T1255 |
3849-3855 |
NN |
denotes |
repair |
T1253 |
3856-3864 |
NN |
denotes |
capacity |
T1256 |
3864-3866 |
, |
denotes |
, |
T1257 |
3866-3869 |
CC |
denotes |
and |
T1258 |
3870-3872 |
NN |
denotes |
UV |
T1259 |
3873-3881 |
NN |
denotes |
survival |
T1260 |
3882-3886 |
WRB |
denotes |
when |
T1261 |
3887-3894 |
JJ |
denotes |
present |
T1262 |
3895-3897 |
IN |
denotes |
in |
T1263 |
3898-3899 |
DT |
denotes |
a |
T1265 |
3900-3908 |
JJ |
denotes |
compound |
T1266 |
3909-3921 |
NN |
denotes |
heterozygote |
T1264 |
3922-3927 |
NN |
denotes |
state |
T1267 |
3927-3928 |
. |
denotes |
. |
T1400 |
3939-3949 |
NN |
denotes |
Generation |
T1401 |
3950-3952 |
IN |
denotes |
of |
T1402 |
3953-3956 |
NN |
denotes |
Xpd |
T1404 |
3957-3965 |
NN |
denotes |
Compound |
T1403 |
3966-3979 |
NNS |
denotes |
Heterozygotes |
T1405 |
3979-4132 |
sentence |
denotes |
We generated an Xpd knock-in allele with a point mutation encoding a single amino acid change (XPDG602D) found in the XPCS patient XPCS2 (Figure 1A–1C). |
T1406 |
3980-3982 |
PRP |
denotes |
We |
T1407 |
3983-3992 |
VBD |
denotes |
generated |
T1408 |
3993-3995 |
DT |
denotes |
an |
T1410 |
3996-3999 |
NN |
denotes |
Xpd |
T1411 |
4000-4005 |
VB |
denotes |
knock |
T1412 |
4005-4006 |
HYPH |
denotes |
- |
T1413 |
4006-4008 |
RP |
denotes |
in |
T1409 |
4009-4015 |
NN |
denotes |
allele |
T1414 |
4016-4020 |
IN |
denotes |
with |
T1415 |
4021-4022 |
DT |
denotes |
a |
T1417 |
4023-4028 |
NN |
denotes |
point |
T1416 |
4029-4037 |
NN |
denotes |
mutation |
T1418 |
4038-4046 |
VBG |
denotes |
encoding |
T1419 |
4047-4048 |
DT |
denotes |
a |
T1421 |
4049-4055 |
JJ |
denotes |
single |
T1422 |
4056-4061 |
NN |
denotes |
amino |
T1423 |
4062-4066 |
NN |
denotes |
acid |
T1420 |
4067-4073 |
NN |
denotes |
change |
T1424 |
4074-4075 |
-LRB- |
denotes |
( |
T1425 |
4075-4083 |
NN |
denotes |
XPDG602D |
T1426 |
4083-4084 |
-RRB- |
denotes |
) |
T1427 |
4085-4090 |
VBN |
denotes |
found |
T1428 |
4091-4093 |
IN |
denotes |
in |
T1429 |
4094-4097 |
DT |
denotes |
the |
T1431 |
4098-4102 |
NN |
denotes |
XPCS |
T1430 |
4103-4110 |
NN |
denotes |
patient |
T1432 |
4111-4116 |
NN |
denotes |
XPCS2 |
T1433 |
4117-4118 |
-LRB- |
denotes |
( |
T1435 |
4118-4124 |
NN |
denotes |
Figure |
T1434 |
4125-4127 |
NN |
denotes |
1A |
T1436 |
4127-4128 |
SYM |
denotes |
– |
T1437 |
4128-4130 |
NN |
denotes |
1C |
T1438 |
4130-4131 |
-RRB- |
denotes |
) |
T1439 |
4131-4132 |
. |
denotes |
. |
T1440 |
4132-4424 |
sentence |
denotes |
mRNA expression from the targeted allele could be detected in embryonic stem cells by RT-PCR (Figure 1D), although expression was reduced approximately 5-fold relative to wt mRNA transcript levels as determined by Northern blotting of RNA from the testis of heterozygous animals (Figure 1E). |
T1441 |
4133-4137 |
NN |
denotes |
mRNA |
T1442 |
4138-4148 |
NN |
denotes |
expression |
T1444 |
4149-4153 |
IN |
denotes |
from |
T1445 |
4154-4157 |
DT |
denotes |
the |
T1447 |
4158-4166 |
VBN |
denotes |
targeted |
T1446 |
4167-4173 |
NN |
denotes |
allele |
T1448 |
4174-4179 |
MD |
denotes |
could |
T1449 |
4180-4182 |
VB |
denotes |
be |
T1443 |
4183-4191 |
VBN |
denotes |
detected |
T1450 |
4192-4194 |
IN |
denotes |
in |
T1451 |
4195-4204 |
JJ |
denotes |
embryonic |
T1453 |
4205-4209 |
NN |
denotes |
stem |
T1452 |
4210-4215 |
NNS |
denotes |
cells |
T1454 |
4216-4218 |
IN |
denotes |
by |
T1455 |
4219-4221 |
NN |
denotes |
RT |
T1457 |
4221-4222 |
HYPH |
denotes |
- |
T1456 |
4222-4225 |
NN |
denotes |
PCR |
T1458 |
4226-4227 |
-LRB- |
denotes |
( |
T1460 |
4227-4233 |
NN |
denotes |
Figure |
T1459 |
4234-4236 |
NN |
denotes |
1D |
T1461 |
4236-4237 |
-RRB- |
denotes |
) |
T1462 |
4237-4239 |
, |
denotes |
, |
T1463 |
4239-4247 |
IN |
denotes |
although |
T1465 |
4248-4258 |
NN |
denotes |
expression |
T1466 |
4259-4262 |
VBD |
denotes |
was |
T1464 |
4263-4270 |
VBN |
denotes |
reduced |
T1467 |
4271-4284 |
RB |
denotes |
approximately |
T1468 |
4285-4286 |
CD |
denotes |
5 |
T1469 |
4286-4287 |
HYPH |
denotes |
- |
T1470 |
4287-4291 |
RB |
denotes |
fold |
T1471 |
4292-4300 |
JJ |
denotes |
relative |
T1472 |
4301-4303 |
IN |
denotes |
to |
T1473 |
4304-4306 |
NN |
denotes |
wt |
T1475 |
4307-4311 |
NN |
denotes |
mRNA |
T1476 |
4312-4322 |
NN |
denotes |
transcript |
T1474 |
4323-4329 |
NNS |
denotes |
levels |
T1477 |
4330-4332 |
IN |
denotes |
as |
T1478 |
4333-4343 |
VBN |
denotes |
determined |
T1479 |
4344-4346 |
IN |
denotes |
by |
T1480 |
4347-4355 |
NNP |
denotes |
Northern |
T1481 |
4356-4364 |
VBG |
denotes |
blotting |
T1482 |
4365-4367 |
IN |
denotes |
of |
T1483 |
4368-4371 |
NN |
denotes |
RNA |
T1484 |
4372-4376 |
IN |
denotes |
from |
T1485 |
4377-4380 |
DT |
denotes |
the |
T1486 |
4381-4387 |
NN |
denotes |
testis |
T1487 |
4388-4390 |
IN |
denotes |
of |
T1488 |
4391-4403 |
JJ |
denotes |
heterozygous |
T1489 |
4404-4411 |
NNS |
denotes |
animals |
T1490 |
4412-4413 |
-LRB- |
denotes |
( |
T1492 |
4413-4419 |
NN |
denotes |
Figure |
T1491 |
4420-4422 |
NN |
denotes |
1E |
T1493 |
4422-4423 |
-RRB- |
denotes |
) |
T1494 |
4423-4424 |
. |
denotes |
. |
T1495 |
4424-4608 |
sentence |
denotes |
Because patient XPCS2 was a hemizygote with mutant XPD protein (XPDG602D) expressed from a single allele, the corresponding mutation was expected to be viable in the homozygous state. |
T1496 |
4425-4432 |
IN |
denotes |
Because |
T1498 |
4433-4440 |
NN |
denotes |
patient |
T1499 |
4441-4446 |
NN |
denotes |
XPCS2 |
T1497 |
4447-4450 |
VBD |
denotes |
was |
T1501 |
4451-4452 |
DT |
denotes |
a |
T1502 |
4453-4463 |
NN |
denotes |
hemizygote |
T1503 |
4464-4468 |
IN |
denotes |
with |
T1504 |
4469-4475 |
JJ |
denotes |
mutant |
T1506 |
4476-4479 |
NN |
denotes |
XPD |
T1505 |
4480-4487 |
NN |
denotes |
protein |
T1507 |
4488-4489 |
-LRB- |
denotes |
( |
T1508 |
4489-4497 |
NN |
denotes |
XPDG602D |
T1509 |
4497-4498 |
-RRB- |
denotes |
) |
T1510 |
4499-4508 |
VBN |
denotes |
expressed |
T1511 |
4509-4513 |
IN |
denotes |
from |
T1512 |
4514-4515 |
DT |
denotes |
a |
T1514 |
4516-4522 |
JJ |
denotes |
single |
T1513 |
4523-4529 |
NN |
denotes |
allele |
T1515 |
4529-4531 |
, |
denotes |
, |
T1516 |
4531-4534 |
DT |
denotes |
the |
T1518 |
4535-4548 |
VBG |
denotes |
corresponding |
T1517 |
4549-4557 |
NN |
denotes |
mutation |
T1519 |
4558-4561 |
VBD |
denotes |
was |
T1500 |
4562-4570 |
VBN |
denotes |
expected |
T1520 |
4571-4573 |
TO |
denotes |
to |
T1521 |
4574-4576 |
VB |
denotes |
be |
T1522 |
4577-4583 |
JJ |
denotes |
viable |
T1523 |
4584-4586 |
IN |
denotes |
in |
T1524 |
4587-4590 |
DT |
denotes |
the |
T1526 |
4591-4601 |
JJ |
denotes |
homozygous |
T1525 |
4602-4607 |
NN |
denotes |
state |
T1527 |
4607-4608 |
. |
denotes |
. |
T1528 |
4608-4745 |
sentence |
denotes |
However, homozygous mutant mice were not observed, neither amongst live births nor embryonic day 13.5 (E13.5) or E3.5 embryos (Table 1). |
T1529 |
4609-4616 |
RB |
denotes |
However |
T1531 |
4616-4618 |
, |
denotes |
, |
T1532 |
4618-4628 |
JJ |
denotes |
homozygous |
T1534 |
4629-4635 |
JJ |
denotes |
mutant |
T1533 |
4636-4640 |
NNS |
denotes |
mice |
T1535 |
4641-4645 |
VBD |
denotes |
were |
T1536 |
4646-4649 |
RB |
denotes |
not |
T1530 |
4650-4658 |
VBN |
denotes |
observed |
T1537 |
4658-4660 |
, |
denotes |
, |
T1538 |
4660-4667 |
CC |
denotes |
neither |
T1539 |
4668-4675 |
IN |
denotes |
amongst |
T1540 |
4676-4680 |
JJ |
denotes |
live |
T1541 |
4681-4687 |
NNS |
denotes |
births |
T1542 |
4688-4691 |
CC |
denotes |
nor |
T1543 |
4692-4701 |
JJ |
denotes |
embryonic |
T1544 |
4702-4705 |
NN |
denotes |
day |
T1546 |
4706-4710 |
CD |
denotes |
13.5 |
T1547 |
4711-4712 |
-LRB- |
denotes |
( |
T1548 |
4712-4717 |
NN |
denotes |
E13.5 |
T1549 |
4717-4718 |
-RRB- |
denotes |
) |
T1550 |
4719-4721 |
CC |
denotes |
or |
T1551 |
4722-4726 |
NN |
denotes |
E3.5 |
T1545 |
4727-4734 |
NNS |
denotes |
embryos |
T1552 |
4735-4736 |
-LRB- |
denotes |
( |
T1553 |
4736-4741 |
NN |
denotes |
Table |
T1554 |
4742-4743 |
CD |
denotes |
1 |
T1555 |
4743-4744 |
-RRB- |
denotes |
) |
T1556 |
4744-4745 |
. |
denotes |
. |
T1557 |
4745-4840 |
sentence |
denotes |
The corresponding hypomorphic, mutant allele was thus designated as homozygous lethal (†XPCS). |
T1558 |
4746-4749 |
DT |
denotes |
The |
T1560 |
4750-4763 |
VBG |
denotes |
corresponding |
T1561 |
4764-4775 |
JJ |
denotes |
hypomorphic |
T1562 |
4775-4777 |
, |
denotes |
, |
T1563 |
4777-4783 |
JJ |
denotes |
mutant |
T1559 |
4784-4790 |
NN |
denotes |
allele |
T1565 |
4791-4794 |
VBD |
denotes |
was |
T1566 |
4795-4799 |
RB |
denotes |
thus |
T1564 |
4800-4810 |
VBN |
denotes |
designated |
T1567 |
4811-4813 |
IN |
denotes |
as |
T1568 |
4814-4824 |
JJ |
denotes |
homozygous |
T1569 |
4825-4831 |
JJ |
denotes |
lethal |
T1570 |
4832-4833 |
-LRB- |
denotes |
( |
T1571 |
4833-4838 |
NN |
denotes |
†XPCS |
T1572 |
4838-4839 |
-RRB- |
denotes |
) |
T1573 |
4839-4840 |
. |
denotes |
. |
T1574 |
4840-5030 |
sentence |
denotes |
Homozygous lethality of the XPCS allele is likely due to reduced levels of expression of this essential protein as a result of gene targeting (Figure 1A) rather than to the mutation itself. |
T1575 |
4841-4851 |
JJ |
denotes |
Homozygous |
T1576 |
4852-4861 |
NN |
denotes |
lethality |
T1578 |
4862-4864 |
IN |
denotes |
of |
T1579 |
4865-4868 |
DT |
denotes |
the |
T1581 |
4869-4873 |
NN |
denotes |
XPCS |
T1580 |
4874-4880 |
NN |
denotes |
allele |
T1577 |
4881-4883 |
VBZ |
denotes |
is |
T1582 |
4884-4890 |
RB |
denotes |
likely |
T1583 |
4891-4894 |
IN |
denotes |
due |
T1584 |
4895-4897 |
IN |
denotes |
to |
T1585 |
4898-4905 |
VBN |
denotes |
reduced |
T1586 |
4906-4912 |
NNS |
denotes |
levels |
T1587 |
4913-4915 |
IN |
denotes |
of |
T1588 |
4916-4926 |
NN |
denotes |
expression |
T1589 |
4927-4929 |
IN |
denotes |
of |
T1590 |
4930-4934 |
DT |
denotes |
this |
T1592 |
4935-4944 |
JJ |
denotes |
essential |
T1591 |
4945-4952 |
NN |
denotes |
protein |
T1593 |
4953-4955 |
IN |
denotes |
as |
T1594 |
4956-4957 |
DT |
denotes |
a |
T1595 |
4958-4964 |
NN |
denotes |
result |
T1596 |
4965-4967 |
IN |
denotes |
of |
T1597 |
4968-4972 |
NN |
denotes |
gene |
T1598 |
4973-4982 |
NN |
denotes |
targeting |
T1599 |
4983-4984 |
-LRB- |
denotes |
( |
T1601 |
4984-4990 |
NN |
denotes |
Figure |
T1600 |
4991-4993 |
NN |
denotes |
1A |
T1602 |
4993-4994 |
-RRB- |
denotes |
) |
T1603 |
4995-5001 |
JJ |
denotes |
rather |
T1604 |
5002-5006 |
IN |
denotes |
than |
T1605 |
5007-5009 |
IN |
denotes |
to |
T1606 |
5010-5013 |
DT |
denotes |
the |
T1607 |
5014-5022 |
NN |
denotes |
mutation |
T1608 |
5023-5029 |
PRP |
denotes |
itself |
T1609 |
5029-5030 |
. |
denotes |
. |
T1610 |
5030-5142 |
sentence |
denotes |
Xpd ablation (XpdKO /KO ) is similarly incompatible with life beyond the earliest stages of embryogenesis [22]. |
T1611 |
5031-5034 |
NN |
denotes |
Xpd |
T1612 |
5035-5043 |
NN |
denotes |
ablation |
T1614 |
5044-5045 |
-LRB- |
denotes |
( |
T1616 |
5045-5050 |
NN |
denotes |
XpdKO |
T1617 |
5051-5052 |
HYPH |
denotes |
/ |
T1615 |
5052-5054 |
NN |
denotes |
KO |
T1618 |
5055-5056 |
-RRB- |
denotes |
) |
T1613 |
5057-5059 |
VBZ |
denotes |
is |
T1619 |
5060-5069 |
RB |
denotes |
similarly |
T1620 |
5070-5082 |
JJ |
denotes |
incompatible |
T1621 |
5083-5087 |
IN |
denotes |
with |
T1622 |
5088-5092 |
NN |
denotes |
life |
T1623 |
5093-5099 |
IN |
denotes |
beyond |
T1624 |
5100-5103 |
DT |
denotes |
the |
T1626 |
5104-5112 |
JJS |
denotes |
earliest |
T1625 |
5113-5119 |
NNS |
denotes |
stages |
T1627 |
5120-5122 |
IN |
denotes |
of |
T1628 |
5123-5136 |
NN |
denotes |
embryogenesis |
T1629 |
5137-5138 |
-LRB- |
denotes |
[ |
T1630 |
5138-5140 |
CD |
denotes |
22 |
T1631 |
5140-5141 |
-RRB- |
denotes |
] |
T1632 |
5141-5142 |
. |
denotes |
. |
T1633 |
5142-5429 |
sentence |
denotes |
Consistent with this interpretation, a different targeted Xpd mutation encoding XPDR683W, which is associated with XP in the homozygous state in humans, was similarly underexpressed and lethal in the homozygous state (designated as †XP allele) (Figure 1A–1C; Table 1; unpublished data). |
T1634 |
5143-5153 |
JJ |
denotes |
Consistent |
T1636 |
5154-5158 |
IN |
denotes |
with |
T1637 |
5159-5163 |
DT |
denotes |
this |
T1638 |
5164-5178 |
NN |
denotes |
interpretation |
T1639 |
5178-5180 |
, |
denotes |
, |
T1640 |
5180-5181 |
DT |
denotes |
a |
T1642 |
5182-5191 |
JJ |
denotes |
different |
T1643 |
5192-5200 |
VBN |
denotes |
targeted |
T1644 |
5201-5204 |
NN |
denotes |
Xpd |
T1641 |
5205-5213 |
NN |
denotes |
mutation |
T1645 |
5214-5222 |
VBG |
denotes |
encoding |
T1646 |
5223-5231 |
NN |
denotes |
XPDR683W |
T1647 |
5231-5233 |
, |
denotes |
, |
T1648 |
5233-5238 |
WDT |
denotes |
which |
T1650 |
5239-5241 |
VBZ |
denotes |
is |
T1649 |
5242-5252 |
VBN |
denotes |
associated |
T1651 |
5253-5257 |
IN |
denotes |
with |
T1652 |
5258-5260 |
NN |
denotes |
XP |
T1653 |
5261-5263 |
IN |
denotes |
in |
T1654 |
5264-5267 |
DT |
denotes |
the |
T1656 |
5268-5278 |
JJ |
denotes |
homozygous |
T1655 |
5279-5284 |
NN |
denotes |
state |
T1657 |
5285-5287 |
IN |
denotes |
in |
T1658 |
5288-5294 |
NNS |
denotes |
humans |
T1659 |
5294-5296 |
, |
denotes |
, |
T1635 |
5296-5299 |
VBD |
denotes |
was |
T1660 |
5300-5309 |
RB |
denotes |
similarly |
T1661 |
5310-5324 |
JJ |
denotes |
underexpressed |
T1662 |
5325-5328 |
CC |
denotes |
and |
T1663 |
5329-5335 |
JJ |
denotes |
lethal |
T1664 |
5336-5338 |
IN |
denotes |
in |
T1665 |
5339-5342 |
DT |
denotes |
the |
T1667 |
5343-5353 |
JJ |
denotes |
homozygous |
T1666 |
5354-5359 |
NN |
denotes |
state |
T1668 |
5360-5361 |
-LRB- |
denotes |
( |
T1669 |
5361-5371 |
VBN |
denotes |
designated |
T1670 |
5372-5374 |
IN |
denotes |
as |
T1671 |
5375-5378 |
NN |
denotes |
†XP |
T1672 |
5379-5385 |
NN |
denotes |
allele |
T1673 |
5385-5386 |
-RRB- |
denotes |
) |
T1674 |
5387-5388 |
-LRB- |
denotes |
( |
T1676 |
5388-5394 |
NN |
denotes |
Figure |
T1675 |
5395-5397 |
NN |
denotes |
1A |
T1677 |
5397-5398 |
SYM |
denotes |
– |
T1678 |
5398-5400 |
NN |
denotes |
1C |
T1679 |
5400-5401 |
: |
denotes |
; |
T1680 |
5402-5407 |
NN |
denotes |
Table |
T1681 |
5408-5409 |
CD |
denotes |
1 |
T1682 |
5409-5410 |
: |
denotes |
; |
T1683 |
5411-5422 |
JJ |
denotes |
unpublished |
T1684 |
5423-5427 |
NNS |
denotes |
data |
T1685 |
5427-5428 |
-RRB- |
denotes |
) |
T1686 |
5428-5429 |
. |
denotes |
. |
T1687 |
5429-5648 |
sentence |
denotes |
Also, a different targeting approach leading to the use of the native 3′UTR and removal of the neo gene resulted in normalisation of XpdXPCS mRNA levels and viable homozygous XpdXPCS/XPCS (XPDG602D/G602D) animals [23]. |
T1688 |
5430-5434 |
RB |
denotes |
Also |
T1690 |
5434-5436 |
, |
denotes |
, |
T1691 |
5436-5437 |
DT |
denotes |
a |
T1693 |
5438-5447 |
JJ |
denotes |
different |
T1694 |
5448-5457 |
NN |
denotes |
targeting |
T1692 |
5458-5466 |
NN |
denotes |
approach |
T1695 |
5467-5474 |
VBG |
denotes |
leading |
T1696 |
5475-5477 |
IN |
denotes |
to |
T1697 |
5478-5481 |
DT |
denotes |
the |
T1698 |
5482-5485 |
NN |
denotes |
use |
T1699 |
5486-5488 |
IN |
denotes |
of |
T1700 |
5489-5492 |
DT |
denotes |
the |
T1702 |
5493-5499 |
JJ |
denotes |
native |
T1703 |
5500-5501 |
CD |
denotes |
3 |
T1704 |
5501-5502 |
SYM |
denotes |
′ |
T1701 |
5502-5505 |
NN |
denotes |
UTR |
T1705 |
5506-5509 |
CC |
denotes |
and |
T1706 |
5510-5517 |
NN |
denotes |
removal |
T1707 |
5518-5520 |
IN |
denotes |
of |
T1708 |
5521-5524 |
DT |
denotes |
the |
T1710 |
5525-5528 |
NN |
denotes |
neo |
T1709 |
5529-5533 |
NN |
denotes |
gene |
T1689 |
5534-5542 |
VBD |
denotes |
resulted |
T1711 |
5543-5545 |
IN |
denotes |
in |
T1712 |
5546-5559 |
NN |
denotes |
normalisation |
T1713 |
5560-5562 |
IN |
denotes |
of |
T1714 |
5563-5570 |
NN |
denotes |
XpdXPCS |
T1716 |
5571-5575 |
NN |
denotes |
mRNA |
T1715 |
5576-5582 |
NNS |
denotes |
levels |
T1717 |
5583-5586 |
CC |
denotes |
and |
T1718 |
5587-5593 |
JJ |
denotes |
viable |
T1720 |
5594-5604 |
JJ |
denotes |
homozygous |
T1721 |
5605-5612 |
NN |
denotes |
XpdXPCS |
T1723 |
5612-5613 |
HYPH |
denotes |
/ |
T1722 |
5613-5617 |
NN |
denotes |
XPCS |
T1724 |
5618-5619 |
-LRB- |
denotes |
( |
T1726 |
5619-5627 |
NN |
denotes |
XPDG602D |
T1727 |
5627-5628 |
HYPH |
denotes |
/ |
T1725 |
5628-5633 |
NN |
denotes |
G602D |
T1728 |
5633-5634 |
-RRB- |
denotes |
) |
T1719 |
5635-5642 |
NNS |
denotes |
animals |
T1729 |
5643-5644 |
-LRB- |
denotes |
[ |
T1730 |
5644-5646 |
CD |
denotes |
23 |
T1731 |
5646-5647 |
-RRB- |
denotes |
] |
T1732 |
5647-5648 |
. |
denotes |
. |
T7095 |
5659-5668 |
NN |
denotes |
Targeting |
T7096 |
5669-5671 |
IN |
denotes |
of |
T7097 |
5672-5675 |
DT |
denotes |
the |
T7099 |
5676-5681 |
NN |
denotes |
Mouse |
T7100 |
5682-5685 |
NN |
denotes |
Xpd |
T7098 |
5686-5690 |
NN |
denotes |
Gene |
T7101 |
5690-5811 |
sentence |
denotes |
(A) Schematic representation of the genomic structure and partial restriction map of the wt and targeted mouse Xpd loci. |
T7102 |
5691-5692 |
-LRB- |
denotes |
( |
T7103 |
5692-5693 |
LS |
denotes |
A |
T7105 |
5693-5694 |
-RRB- |
denotes |
) |
T7106 |
5695-5704 |
JJ |
denotes |
Schematic |
T7104 |
5705-5719 |
NN |
denotes |
representation |
T7107 |
5720-5722 |
IN |
denotes |
of |
T7108 |
5723-5726 |
DT |
denotes |
the |
T7110 |
5727-5734 |
JJ |
denotes |
genomic |
T7109 |
5735-5744 |
NN |
denotes |
structure |
T7111 |
5745-5748 |
CC |
denotes |
and |
T7112 |
5749-5756 |
JJ |
denotes |
partial |
T7114 |
5757-5768 |
NN |
denotes |
restriction |
T7113 |
5769-5772 |
NN |
denotes |
map |
T7115 |
5773-5775 |
IN |
denotes |
of |
T7116 |
5776-5779 |
DT |
denotes |
the |
T7118 |
5780-5782 |
NN |
denotes |
wt |
T7119 |
5783-5786 |
CC |
denotes |
and |
T7120 |
5787-5795 |
VBN |
denotes |
targeted |
T7121 |
5796-5801 |
NN |
denotes |
mouse |
T7122 |
5802-5805 |
NN |
denotes |
Xpd |
T7117 |
5806-5810 |
NNS |
denotes |
loci |
T7123 |
5810-5811 |
. |
denotes |
. |
T7124 |
5811-5936 |
sentence |
denotes |
For the wt Xpd allele, shaded boxes represent coding regions of exons 12 and 19–23; the 3′UTR is represented by an open box. |
T7125 |
5812-5815 |
IN |
denotes |
For |
T7127 |
5816-5819 |
DT |
denotes |
the |
T7129 |
5820-5822 |
NN |
denotes |
wt |
T7130 |
5823-5826 |
NN |
denotes |
Xpd |
T7128 |
5827-5833 |
NN |
denotes |
allele |
T7131 |
5833-5835 |
, |
denotes |
, |
T7132 |
5835-5841 |
JJ |
denotes |
shaded |
T7133 |
5842-5847 |
NNS |
denotes |
boxes |
T7134 |
5848-5857 |
VBP |
denotes |
represent |
T7135 |
5858-5864 |
VBG |
denotes |
coding |
T7136 |
5865-5872 |
NNS |
denotes |
regions |
T7137 |
5873-5875 |
IN |
denotes |
of |
T7138 |
5876-5881 |
NNS |
denotes |
exons |
T7139 |
5882-5884 |
CD |
denotes |
12 |
T7140 |
5885-5888 |
CC |
denotes |
and |
T7141 |
5889-5891 |
CD |
denotes |
19 |
T7142 |
5891-5892 |
SYM |
denotes |
– |
T7143 |
5892-5894 |
CD |
denotes |
23 |
T7144 |
5894-5895 |
: |
denotes |
; |
T7145 |
5896-5899 |
DT |
denotes |
the |
T7147 |
5900-5901 |
CD |
denotes |
3 |
T7148 |
5901-5902 |
SYM |
denotes |
′ |
T7146 |
5902-5905 |
NN |
denotes |
UTR |
T7149 |
5906-5908 |
VBZ |
denotes |
is |
T7126 |
5909-5920 |
VBN |
denotes |
represented |
T7150 |
5921-5923 |
IN |
denotes |
by |
T7151 |
5924-5926 |
DT |
denotes |
an |
T7153 |
5927-5931 |
JJ |
denotes |
open |
T7152 |
5932-5935 |
NN |
denotes |
box |
T7154 |
5935-5936 |
. |
denotes |
. |
T7155 |
5936-6024 |
sentence |
denotes |
TGA indicates the translational stop codon; PolyA indicates the polyadenylation signal. |
T7156 |
5937-5940 |
NN |
denotes |
TGA |
T7157 |
5941-5950 |
VBZ |
denotes |
indicates |
T7159 |
5951-5954 |
DT |
denotes |
the |
T7161 |
5955-5968 |
JJ |
denotes |
translational |
T7162 |
5969-5973 |
NN |
denotes |
stop |
T7160 |
5974-5979 |
NN |
denotes |
codon |
T7163 |
5979-5980 |
: |
denotes |
; |
T7164 |
5981-5986 |
NN |
denotes |
PolyA |
T7158 |
5987-5996 |
VBZ |
denotes |
indicates |
T7165 |
5997-6000 |
DT |
denotes |
the |
T7167 |
6001-6016 |
NN |
denotes |
polyadenylation |
T7166 |
6017-6023 |
NN |
denotes |
signal |
T7168 |
6023-6024 |
. |
denotes |
. |
T7169 |
6024-6216 |
sentence |
denotes |
For the XpdTTD targeted allele, the 194–base pair (bp) human XPD cDNA fragment fused to exon 22 is indicated as a striped box including the TTD (R722W) mutation indicated by a vertical arrow. |
T7170 |
6025-6028 |
IN |
denotes |
For |
T7172 |
6029-6032 |
DT |
denotes |
the |
T7174 |
6033-6039 |
NN |
denotes |
XpdTTD |
T7175 |
6040-6048 |
VBN |
denotes |
targeted |
T7173 |
6049-6055 |
NN |
denotes |
allele |
T7176 |
6055-6057 |
, |
denotes |
, |
T7177 |
6057-6060 |
DT |
denotes |
the |
T7179 |
6061-6064 |
CD |
denotes |
194 |
T7181 |
6064-6065 |
HYPH |
denotes |
– |
T7182 |
6065-6069 |
NN |
denotes |
base |
T7180 |
6070-6074 |
NN |
denotes |
pair |
T7183 |
6075-6076 |
-LRB- |
denotes |
( |
T7184 |
6076-6078 |
NN |
denotes |
bp |
T7185 |
6078-6079 |
-RRB- |
denotes |
) |
T7186 |
6080-6085 |
JJ |
denotes |
human |
T7187 |
6086-6089 |
NN |
denotes |
XPD |
T7188 |
6090-6094 |
NN |
denotes |
cDNA |
T7178 |
6095-6103 |
NN |
denotes |
fragment |
T7189 |
6104-6109 |
VBN |
denotes |
fused |
T7190 |
6110-6112 |
IN |
denotes |
to |
T7191 |
6113-6117 |
NN |
denotes |
exon |
T7192 |
6118-6120 |
CD |
denotes |
22 |
T7193 |
6121-6123 |
VBZ |
denotes |
is |
T7171 |
6124-6133 |
VBN |
denotes |
indicated |
T7194 |
6134-6136 |
IN |
denotes |
as |
T7195 |
6137-6138 |
DT |
denotes |
a |
T7197 |
6139-6146 |
VBN |
denotes |
striped |
T7196 |
6147-6150 |
NN |
denotes |
box |
T7198 |
6151-6160 |
VBG |
denotes |
including |
T7199 |
6161-6164 |
DT |
denotes |
the |
T7201 |
6165-6168 |
NN |
denotes |
TTD |
T7202 |
6169-6170 |
-LRB- |
denotes |
( |
T7203 |
6170-6175 |
NN |
denotes |
R722W |
T7204 |
6175-6176 |
-RRB- |
denotes |
) |
T7200 |
6177-6185 |
NN |
denotes |
mutation |
T7205 |
6186-6195 |
VBN |
denotes |
indicated |
T7206 |
6196-6198 |
IN |
denotes |
by |
T7207 |
6199-6200 |
DT |
denotes |
a |
T7209 |
6201-6209 |
JJ |
denotes |
vertical |
T7208 |
6210-6215 |
NN |
denotes |
arrow |
T7210 |
6215-6216 |
. |
denotes |
. |
T7211 |
6216-6388 |
sentence |
denotes |
Chicken β-globin exons 2 and 3 including the 3′UTR are indicated as black boxes with corresponding Roman numerals followed by the β-globin polyadenylation signal (PolyA*). |
T7212 |
6217-6224 |
NN |
denotes |
Chicken |
T7214 |
6225-6226 |
NN |
denotes |
β |
T7216 |
6226-6227 |
HYPH |
denotes |
- |
T7215 |
6227-6233 |
NN |
denotes |
globin |
T7217 |
6234-6239 |
NNS |
denotes |
exons |
T7213 |
6240-6241 |
CD |
denotes |
2 |
T7219 |
6242-6245 |
CC |
denotes |
and |
T7220 |
6246-6247 |
CD |
denotes |
3 |
T7221 |
6248-6257 |
VBG |
denotes |
including |
T7222 |
6258-6261 |
DT |
denotes |
the |
T7224 |
6262-6263 |
CD |
denotes |
3 |
T7225 |
6263-6264 |
HYPH |
denotes |
′ |
T7223 |
6264-6267 |
NN |
denotes |
UTR |
T7226 |
6268-6271 |
VBP |
denotes |
are |
T7218 |
6272-6281 |
VBN |
denotes |
indicated |
T7227 |
6282-6284 |
IN |
denotes |
as |
T7228 |
6285-6290 |
JJ |
denotes |
black |
T7229 |
6291-6296 |
NNS |
denotes |
boxes |
T7230 |
6297-6301 |
IN |
denotes |
with |
T7231 |
6302-6315 |
VBG |
denotes |
corresponding |
T7233 |
6316-6321 |
NNP |
denotes |
Roman |
T7232 |
6322-6330 |
NNS |
denotes |
numerals |
T7234 |
6331-6339 |
VBN |
denotes |
followed |
T7235 |
6340-6342 |
IN |
denotes |
by |
T7236 |
6343-6346 |
DT |
denotes |
the |
T7238 |
6347-6348 |
NN |
denotes |
β |
T7240 |
6348-6349 |
HYPH |
denotes |
- |
T7239 |
6349-6355 |
NN |
denotes |
globin |
T7241 |
6356-6371 |
NN |
denotes |
polyadenylation |
T7237 |
6372-6378 |
NN |
denotes |
signal |
T7242 |
6379-6380 |
-LRB- |
denotes |
( |
T7243 |
6380-6386 |
NN |
denotes |
PolyA* |
T7244 |
6386-6387 |
-RRB- |
denotes |
) |
T7245 |
6387-6388 |
. |
denotes |
. |
T7246 |
6388-6549 |
sentence |
denotes |
For the Xpd†XP and Xpd†XPCS targeted alleles, vertical arrows indicate XPCS (G602D-encoding) and XP (R683W-encoding) mutations in exons 19 and 22, respectively. |
T7247 |
6389-6392 |
IN |
denotes |
For |
T7249 |
6393-6396 |
DT |
denotes |
the |
T7251 |
6397-6403 |
NN |
denotes |
Xpd†XP |
T7252 |
6404-6407 |
CC |
denotes |
and |
T7253 |
6408-6416 |
NN |
denotes |
Xpd†XPCS |
T7254 |
6417-6425 |
VBN |
denotes |
targeted |
T7250 |
6426-6433 |
NNS |
denotes |
alleles |
T7255 |
6433-6435 |
, |
denotes |
, |
T7256 |
6435-6443 |
JJ |
denotes |
vertical |
T7257 |
6444-6450 |
NNS |
denotes |
arrows |
T7248 |
6451-6459 |
VBP |
denotes |
indicate |
T7258 |
6460-6464 |
NN |
denotes |
XPCS |
T7260 |
6465-6466 |
-LRB- |
denotes |
( |
T7262 |
6466-6471 |
NN |
denotes |
G602D |
T7263 |
6471-6472 |
HYPH |
denotes |
- |
T7261 |
6472-6480 |
VBG |
denotes |
encoding |
T7264 |
6480-6481 |
-RRB- |
denotes |
) |
T7265 |
6482-6485 |
CC |
denotes |
and |
T7266 |
6486-6488 |
NN |
denotes |
XP |
T7267 |
6489-6490 |
-LRB- |
denotes |
( |
T7269 |
6490-6495 |
NN |
denotes |
R683W |
T7270 |
6495-6496 |
HYPH |
denotes |
- |
T7268 |
6496-6504 |
VBG |
denotes |
encoding |
T7271 |
6504-6505 |
-RRB- |
denotes |
) |
T7259 |
6506-6515 |
NNS |
denotes |
mutations |
T7272 |
6516-6518 |
IN |
denotes |
in |
T7273 |
6519-6524 |
NNS |
denotes |
exons |
T7274 |
6525-6527 |
CD |
denotes |
19 |
T7275 |
6528-6531 |
CC |
denotes |
and |
T7276 |
6532-6534 |
CD |
denotes |
22 |
T7277 |
6534-6536 |
, |
denotes |
, |
T7278 |
6536-6548 |
RB |
denotes |
respectively |
T7279 |
6548-6549 |
. |
denotes |
. |
T7280 |
6549-6642 |
sentence |
denotes |
The unique 3′ probe located outside the targeting construct is marked by a thick black line. |
T7281 |
6550-6553 |
DT |
denotes |
The |
T7283 |
6554-6560 |
JJ |
denotes |
unique |
T7284 |
6561-6562 |
CD |
denotes |
3 |
T7285 |
6562-6563 |
SYM |
denotes |
′ |
T7282 |
6564-6569 |
NN |
denotes |
probe |
T7287 |
6570-6577 |
VBN |
denotes |
located |
T7288 |
6578-6585 |
IN |
denotes |
outside |
T7289 |
6586-6589 |
DT |
denotes |
the |
T7291 |
6590-6599 |
VBG |
denotes |
targeting |
T7290 |
6600-6609 |
NN |
denotes |
construct |
T7292 |
6610-6612 |
VBZ |
denotes |
is |
T7286 |
6613-6619 |
VBN |
denotes |
marked |
T7293 |
6620-6622 |
IN |
denotes |
by |
T7294 |
6623-6624 |
DT |
denotes |
a |
T7296 |
6625-6630 |
JJ |
denotes |
thick |
T7297 |
6631-6636 |
JJ |
denotes |
black |
T7295 |
6637-6641 |
NN |
denotes |
line |
T7298 |
6641-6642 |
. |
denotes |
. |
T7299 |
6642-6722 |
sentence |
denotes |
Restriction sites: B, BamHI; C, ClaI; E, EcoRI; H, HindIII; Hp, HpaI; Sf, SfiI. |
T7300 |
6643-6654 |
NN |
denotes |
Restriction |
T7301 |
6655-6660 |
NNS |
denotes |
sites |
T7302 |
6660-6662 |
: |
denotes |
: |
T7303 |
6662-6663 |
NN |
denotes |
B |
T7304 |
6663-6665 |
, |
denotes |
, |
T7305 |
6665-6670 |
NN |
denotes |
BamHI |
T7306 |
6670-6671 |
: |
denotes |
; |
T7307 |
6672-6673 |
NN |
denotes |
C |
T7308 |
6673-6675 |
, |
denotes |
, |
T7309 |
6675-6679 |
NN |
denotes |
ClaI |
T7310 |
6679-6680 |
: |
denotes |
; |
T7311 |
6681-6682 |
NN |
denotes |
E |
T7312 |
6682-6684 |
, |
denotes |
, |
T7313 |
6684-6689 |
NN |
denotes |
EcoRI |
T7314 |
6689-6690 |
: |
denotes |
; |
T7315 |
6691-6692 |
NN |
denotes |
H |
T7316 |
6692-6694 |
, |
denotes |
, |
T7317 |
6694-6701 |
NN |
denotes |
HindIII |
T7318 |
6701-6702 |
: |
denotes |
; |
T7319 |
6703-6705 |
NN |
denotes |
Hp |
T7320 |
6705-6707 |
, |
denotes |
, |
T7321 |
6707-6711 |
NN |
denotes |
HpaI |
T7322 |
6711-6712 |
: |
denotes |
; |
T7323 |
6713-6715 |
NN |
denotes |
Sf |
T7324 |
6715-6717 |
, |
denotes |
, |
T7325 |
6717-6721 |
NN |
denotes |
SfiI |
T7326 |
6721-6722 |
. |
denotes |
. |
T7327 |
6722-6900 |
sentence |
denotes |
(B) Southern blot analysis of EcoRI-digested genomic DNA from wt, Xpd†XPCS/wt, and Xpd†XP/wt recombinant embryonic stem cell clones hybridised with the 3′ probe depicted in (A). |
T7328 |
6723-6724 |
-LRB- |
denotes |
( |
T7329 |
6724-6725 |
LS |
denotes |
B |
T7331 |
6725-6726 |
-RRB- |
denotes |
) |
T7332 |
6727-6735 |
NNP |
denotes |
Southern |
T7333 |
6736-6740 |
NN |
denotes |
blot |
T7330 |
6741-6749 |
NN |
denotes |
analysis |
T7334 |
6750-6752 |
IN |
denotes |
of |
T7335 |
6753-6758 |
NN |
denotes |
EcoRI |
T7337 |
6758-6759 |
HYPH |
denotes |
- |
T7336 |
6759-6767 |
VBN |
denotes |
digested |
T7339 |
6768-6775 |
JJ |
denotes |
genomic |
T7338 |
6776-6779 |
NN |
denotes |
DNA |
T7340 |
6780-6784 |
IN |
denotes |
from |
T7341 |
6785-6787 |
NN |
denotes |
wt |
T7343 |
6787-6789 |
, |
denotes |
, |
T7344 |
6789-6797 |
NN |
denotes |
Xpd†XPCS |
T7346 |
6797-6798 |
HYPH |
denotes |
/ |
T7345 |
6798-6800 |
NN |
denotes |
wt |
T7347 |
6800-6802 |
, |
denotes |
, |
T7348 |
6802-6805 |
CC |
denotes |
and |
T7349 |
6806-6812 |
NN |
denotes |
Xpd†XP |
T7351 |
6812-6813 |
HYPH |
denotes |
/ |
T7350 |
6813-6815 |
NN |
denotes |
wt |
T7352 |
6816-6827 |
JJ |
denotes |
recombinant |
T7353 |
6828-6837 |
JJ |
denotes |
embryonic |
T7355 |
6838-6842 |
NN |
denotes |
stem |
T7354 |
6843-6847 |
NN |
denotes |
cell |
T7342 |
6848-6854 |
NNS |
denotes |
clones |
T7356 |
6855-6865 |
VBN |
denotes |
hybridised |
T7357 |
6866-6870 |
IN |
denotes |
with |
T7358 |
6871-6874 |
DT |
denotes |
the |
T7360 |
6875-6876 |
CD |
denotes |
3 |
T7361 |
6876-6877 |
SYM |
denotes |
′ |
T7359 |
6878-6883 |
NN |
denotes |
probe |
T7362 |
6884-6892 |
VBN |
denotes |
depicted |
T7363 |
6893-6895 |
IN |
denotes |
in |
T7364 |
6896-6897 |
-LRB- |
denotes |
( |
T7365 |
6897-6898 |
NN |
denotes |
A |
T7366 |
6898-6899 |
-RRB- |
denotes |
) |
T7367 |
6899-6900 |
. |
denotes |
. |
T7368 |
6900-7026 |
sentence |
denotes |
The wt allele yields a 6.5-kilobase (kb) fragment, whereas both targeted Xpd†XP and Xpd†XPCS alleles yield a 5.1-kb fragment. |
T7369 |
6901-6904 |
DT |
denotes |
The |
T7371 |
6905-6907 |
NN |
denotes |
wt |
T7370 |
6908-6914 |
NN |
denotes |
allele |
T7372 |
6915-6921 |
VBZ |
denotes |
yields |
T7373 |
6922-6923 |
DT |
denotes |
a |
T7375 |
6924-6927 |
CD |
denotes |
6.5 |
T7377 |
6927-6928 |
HYPH |
denotes |
- |
T7376 |
6928-6936 |
NN |
denotes |
kilobase |
T7378 |
6937-6938 |
-LRB- |
denotes |
( |
T7379 |
6938-6940 |
NN |
denotes |
kb |
T7380 |
6940-6941 |
-RRB- |
denotes |
) |
T7374 |
6942-6950 |
NN |
denotes |
fragment |
T7381 |
6950-6952 |
, |
denotes |
, |
T7382 |
6952-6959 |
IN |
denotes |
whereas |
T7384 |
6960-6964 |
CC |
denotes |
both |
T7386 |
6965-6973 |
VBN |
denotes |
targeted |
T7387 |
6974-6980 |
NN |
denotes |
Xpd†XP |
T7388 |
6981-6984 |
CC |
denotes |
and |
T7389 |
6985-6993 |
NN |
denotes |
Xpd†XPCS |
T7385 |
6994-7001 |
NNS |
denotes |
alleles |
T7383 |
7002-7007 |
VBP |
denotes |
yield |
T7390 |
7008-7009 |
DT |
denotes |
a |
T7392 |
7010-7013 |
CD |
denotes |
5.1 |
T7394 |
7013-7014 |
HYPH |
denotes |
- |
T7393 |
7014-7016 |
NN |
denotes |
kb |
T7391 |
7017-7025 |
NN |
denotes |
fragment |
T7395 |
7025-7026 |
. |
denotes |
. |
T7396 |
7026-7177 |
sentence |
denotes |
(C) Genotyping of wt and targeted alleles by PCR using primers F2, R1, and mR as indicated in (A) yields fragments of 399 bp and 468 bp, respectively. |
T7397 |
7027-7028 |
-LRB- |
denotes |
( |
T7398 |
7028-7029 |
LS |
denotes |
C |
T7400 |
7029-7030 |
-RRB- |
denotes |
) |
T7399 |
7031-7041 |
NN |
denotes |
Genotyping |
T7401 |
7042-7044 |
IN |
denotes |
of |
T7402 |
7045-7047 |
NN |
denotes |
wt |
T7404 |
7048-7051 |
CC |
denotes |
and |
T7405 |
7052-7060 |
VBN |
denotes |
targeted |
T7403 |
7061-7068 |
NNS |
denotes |
alleles |
T7406 |
7069-7071 |
IN |
denotes |
by |
T7407 |
7072-7075 |
NN |
denotes |
PCR |
T7408 |
7076-7081 |
VBG |
denotes |
using |
T7409 |
7082-7089 |
NNS |
denotes |
primers |
T7410 |
7090-7092 |
NN |
denotes |
F2 |
T7411 |
7092-7094 |
, |
denotes |
, |
T7412 |
7094-7096 |
NN |
denotes |
R1 |
T7413 |
7096-7098 |
, |
denotes |
, |
T7414 |
7098-7101 |
CC |
denotes |
and |
T7415 |
7102-7104 |
NN |
denotes |
mR |
T7416 |
7105-7107 |
IN |
denotes |
as |
T7417 |
7108-7117 |
VBN |
denotes |
indicated |
T7418 |
7118-7120 |
IN |
denotes |
in |
T7419 |
7121-7122 |
-LRB- |
denotes |
( |
T7420 |
7122-7123 |
LS |
denotes |
A |
T7422 |
7123-7124 |
-RRB- |
denotes |
) |
T7423 |
7125-7131 |
VBZ |
denotes |
yields |
T7421 |
7132-7141 |
NNS |
denotes |
fragments |
T7424 |
7142-7144 |
IN |
denotes |
of |
T7425 |
7145-7148 |
CD |
denotes |
399 |
T7426 |
7149-7151 |
NN |
denotes |
bp |
T7427 |
7152-7155 |
CC |
denotes |
and |
T7428 |
7156-7159 |
CD |
denotes |
468 |
T7429 |
7160-7162 |
NN |
denotes |
bp |
T7430 |
7162-7164 |
, |
denotes |
, |
T7431 |
7164-7176 |
RB |
denotes |
respectively |
T7432 |
7176-7177 |
. |
denotes |
. |
T7433 |
7177-7421 |
sentence |
denotes |
(D) RT-PCR detection of mRNA expression originating from the targeted †XP and †XPCS alleles in embryonic stem cell clones using primers F1 (hybridising outside the targeting construct) and mR as indicated in (A) results in a 1,416-bp fragment. |
T7434 |
7178-7179 |
-LRB- |
denotes |
( |
T7435 |
7179-7180 |
LS |
denotes |
D |
T7437 |
7180-7181 |
-RRB- |
denotes |
) |
T7438 |
7182-7184 |
NN |
denotes |
RT |
T7440 |
7184-7185 |
HYPH |
denotes |
- |
T7439 |
7185-7188 |
NN |
denotes |
PCR |
T7441 |
7189-7198 |
NN |
denotes |
detection |
T7442 |
7199-7201 |
IN |
denotes |
of |
T7443 |
7202-7206 |
NN |
denotes |
mRNA |
T7444 |
7207-7217 |
NN |
denotes |
expression |
T7445 |
7218-7229 |
VBG |
denotes |
originating |
T7446 |
7230-7234 |
IN |
denotes |
from |
T7447 |
7235-7238 |
DT |
denotes |
the |
T7449 |
7239-7247 |
VBN |
denotes |
targeted |
T7450 |
7248-7251 |
NN |
denotes |
†XP |
T7451 |
7252-7255 |
CC |
denotes |
and |
T7452 |
7256-7261 |
NN |
denotes |
†XPCS |
T7448 |
7262-7269 |
NNS |
denotes |
alleles |
T7453 |
7270-7272 |
IN |
denotes |
in |
T7454 |
7273-7282 |
JJ |
denotes |
embryonic |
T7456 |
7283-7287 |
NN |
denotes |
stem |
T7455 |
7288-7292 |
NN |
denotes |
cell |
T7457 |
7293-7299 |
NNS |
denotes |
clones |
T7458 |
7300-7305 |
VBG |
denotes |
using |
T7459 |
7306-7313 |
NNS |
denotes |
primers |
T7460 |
7314-7316 |
NN |
denotes |
F1 |
T7461 |
7317-7318 |
-LRB- |
denotes |
( |
T7462 |
7318-7329 |
VBG |
denotes |
hybridising |
T7463 |
7330-7337 |
IN |
denotes |
outside |
T7464 |
7338-7341 |
DT |
denotes |
the |
T7466 |
7342-7351 |
VBG |
denotes |
targeting |
T7465 |
7352-7361 |
NN |
denotes |
construct |
T7467 |
7361-7362 |
-RRB- |
denotes |
) |
T7468 |
7363-7366 |
CC |
denotes |
and |
T7469 |
7367-7369 |
NN |
denotes |
mR |
T7470 |
7370-7372 |
IN |
denotes |
as |
T7471 |
7373-7382 |
VBN |
denotes |
indicated |
T7472 |
7383-7385 |
IN |
denotes |
in |
T7473 |
7386-7387 |
-LRB- |
denotes |
( |
T7474 |
7387-7388 |
NN |
denotes |
A |
T7475 |
7388-7389 |
-RRB- |
denotes |
) |
T7436 |
7390-7397 |
VBZ |
denotes |
results |
T7476 |
7398-7400 |
IN |
denotes |
in |
T7477 |
7401-7402 |
DT |
denotes |
a |
T7479 |
7403-7408 |
CD |
denotes |
1,416 |
T7481 |
7408-7409 |
HYPH |
denotes |
- |
T7480 |
7409-7411 |
NN |
denotes |
bp |
T7478 |
7412-7420 |
NN |
denotes |
fragment |
T7482 |
7420-7421 |
. |
denotes |
. |
T7483 |
7421-7613 |
sentence |
denotes |
(E) Northern blot analysis of total RNA isolated from testis of homozygous wt and XpdTTD/TTD, heterozygous Xpd†XPCS/wt and XpdTTD/wt, and compound heterozygous Xpd†XPCS/TTD mice as indicated. |
T7484 |
7422-7423 |
-LRB- |
denotes |
( |
T7485 |
7423-7424 |
LS |
denotes |
E |
T7487 |
7424-7425 |
-RRB- |
denotes |
) |
T7488 |
7426-7434 |
NNP |
denotes |
Northern |
T7489 |
7435-7439 |
NN |
denotes |
blot |
T7486 |
7440-7448 |
NN |
denotes |
analysis |
T7490 |
7449-7451 |
IN |
denotes |
of |
T7491 |
7452-7457 |
JJ |
denotes |
total |
T7492 |
7458-7461 |
NN |
denotes |
RNA |
T7493 |
7462-7470 |
VBN |
denotes |
isolated |
T7494 |
7471-7475 |
IN |
denotes |
from |
T7495 |
7476-7482 |
NN |
denotes |
testis |
T7496 |
7483-7485 |
IN |
denotes |
of |
T7497 |
7486-7496 |
JJ |
denotes |
homozygous |
T7498 |
7497-7499 |
NN |
denotes |
wt |
T7500 |
7500-7503 |
CC |
denotes |
and |
T7501 |
7504-7510 |
NN |
denotes |
XpdTTD |
T7503 |
7510-7511 |
HYPH |
denotes |
/ |
T7502 |
7511-7514 |
NN |
denotes |
TTD |
T7504 |
7514-7516 |
, |
denotes |
, |
T7505 |
7516-7528 |
JJ |
denotes |
heterozygous |
T7507 |
7529-7537 |
NN |
denotes |
Xpd†XPCS |
T7508 |
7537-7538 |
HYPH |
denotes |
/ |
T7506 |
7538-7540 |
NN |
denotes |
wt |
T7509 |
7541-7544 |
CC |
denotes |
and |
T7510 |
7545-7551 |
NN |
denotes |
XpdTTD |
T7512 |
7551-7552 |
HYPH |
denotes |
/ |
T7511 |
7552-7554 |
NN |
denotes |
wt |
T7513 |
7554-7556 |
, |
denotes |
, |
T7514 |
7556-7559 |
CC |
denotes |
and |
T7515 |
7560-7568 |
JJ |
denotes |
compound |
T7517 |
7569-7581 |
JJ |
denotes |
heterozygous |
T7518 |
7582-7590 |
NN |
denotes |
Xpd†XPCS |
T7519 |
7590-7591 |
HYPH |
denotes |
/ |
T7516 |
7591-7594 |
NN |
denotes |
TTD |
T7499 |
7595-7599 |
NNS |
denotes |
mice |
T7520 |
7600-7602 |
IN |
denotes |
as |
T7521 |
7603-7612 |
VBN |
denotes |
indicated |
T7522 |
7612-7613 |
. |
denotes |
. |
T7523 |
7613-7751 |
sentence |
denotes |
Hybridisation with a 1.4-kb mouse Xpd cDNA probe detects mRNAs of 4, 3.3, and 2.7 kb from wt, Xpd†XPCS, and XpdTTD alleles, respectively. |
T7524 |
7614-7627 |
NN |
denotes |
Hybridisation |
T7526 |
7628-7632 |
IN |
denotes |
with |
T7527 |
7633-7634 |
DT |
denotes |
a |
T7529 |
7635-7638 |
CD |
denotes |
1.4 |
T7531 |
7638-7639 |
HYPH |
denotes |
- |
T7530 |
7639-7641 |
NN |
denotes |
kb |
T7532 |
7642-7647 |
NN |
denotes |
mouse |
T7533 |
7648-7651 |
NN |
denotes |
Xpd |
T7534 |
7652-7656 |
NN |
denotes |
cDNA |
T7528 |
7657-7662 |
NN |
denotes |
probe |
T7525 |
7663-7670 |
VBZ |
denotes |
detects |
T7535 |
7671-7676 |
NNS |
denotes |
mRNAs |
T7536 |
7677-7679 |
IN |
denotes |
of |
T7537 |
7680-7681 |
CD |
denotes |
4 |
T7539 |
7681-7683 |
, |
denotes |
, |
T7540 |
7683-7686 |
CD |
denotes |
3.3 |
T7541 |
7686-7688 |
, |
denotes |
, |
T7542 |
7688-7691 |
CC |
denotes |
and |
T7543 |
7692-7695 |
CD |
denotes |
2.7 |
T7538 |
7696-7698 |
NN |
denotes |
kb |
T7544 |
7699-7703 |
IN |
denotes |
from |
T7545 |
7704-7706 |
NN |
denotes |
wt |
T7547 |
7706-7708 |
, |
denotes |
, |
T7548 |
7708-7716 |
NN |
denotes |
Xpd†XPCS |
T7549 |
7716-7718 |
, |
denotes |
, |
T7550 |
7718-7721 |
CC |
denotes |
and |
T7551 |
7722-7728 |
NN |
denotes |
XpdTTD |
T7546 |
7729-7736 |
NNS |
denotes |
alleles |
T7552 |
7736-7738 |
, |
denotes |
, |
T7553 |
7738-7750 |
RB |
denotes |
respectively |
T7554 |
7750-7751 |
. |
denotes |
. |
T7555 |
7751-7845 |
sentence |
denotes |
An ethidium bromide (EtBr)–stained gel showing the amount of total RNA loaded is shown below. |
T7556 |
7752-7754 |
DT |
denotes |
An |
T7558 |
7755-7763 |
NN |
denotes |
ethidium |
T7559 |
7764-7771 |
NN |
denotes |
bromide |
T7561 |
7772-7773 |
-LRB- |
denotes |
( |
T7562 |
7773-7777 |
NN |
denotes |
EtBr |
T7563 |
7777-7778 |
-RRB- |
denotes |
) |
T7564 |
7778-7779 |
HYPH |
denotes |
– |
T7560 |
7779-7786 |
VBN |
denotes |
stained |
T7557 |
7787-7790 |
NN |
denotes |
gel |
T7566 |
7791-7798 |
VBG |
denotes |
showing |
T7567 |
7799-7802 |
DT |
denotes |
the |
T7568 |
7803-7809 |
NN |
denotes |
amount |
T7569 |
7810-7812 |
IN |
denotes |
of |
T7570 |
7813-7818 |
JJ |
denotes |
total |
T7571 |
7819-7822 |
NN |
denotes |
RNA |
T7572 |
7823-7829 |
VBN |
denotes |
loaded |
T7573 |
7830-7832 |
VBZ |
denotes |
is |
T7565 |
7833-7838 |
VBN |
denotes |
shown |
T7574 |
7839-7844 |
RB |
denotes |
below |
T7575 |
7844-7845 |
. |
denotes |
. |
T9211 |
7855-7864 |
NN |
denotes |
Frequency |
T9212 |
7865-7867 |
IN |
denotes |
of |
T9213 |
7868-7874 |
NN |
denotes |
Xpd†XP |
T9215 |
7874-7875 |
HYPH |
denotes |
/ |
T9214 |
7875-7878 |
NN |
denotes |
†XP |
T9216 |
7878-7880 |
, |
denotes |
, |
T9217 |
7880-7888 |
NN |
denotes |
Xpd†XPCS |
T9219 |
7888-7889 |
HYPH |
denotes |
/ |
T9218 |
7889-7894 |
NN |
denotes |
†XPCS |
T9220 |
7894-7896 |
, |
denotes |
, |
T9221 |
7896-7899 |
CC |
denotes |
and |
T9222 |
7900-7908 |
NN |
denotes |
Compound |
T9224 |
7909-7921 |
JJ |
denotes |
Heterozygous |
T9225 |
7922-7928 |
NN |
denotes |
Xpd†XP |
T9226 |
7928-7929 |
HYPH |
denotes |
/ |
T9223 |
7929-7934 |
NN |
denotes |
†XPCS |
T9227 |
7935-7942 |
NNS |
denotes |
Embryos |
T9228 |
7943-7946 |
CC |
denotes |
and |
T9229 |
7947-7956 |
NN |
denotes |
Offspring |
T1954 |
7958-7959 |
`` |
denotes |
“ |
T1956 |
7959-7963 |
JJ |
denotes |
Null |
T1957 |
7963-7964 |
'' |
denotes |
” |
T1955 |
7965-7971 |
NN |
denotes |
Allele |
T1959 |
7972-7975 |
MD |
denotes |
Can |
T1958 |
7976-7985 |
VB |
denotes |
Alleviate |
T1960 |
7986-7999 |
JJ |
denotes |
Developmental |
T1961 |
8000-8005 |
NN |
denotes |
Delay |
T1962 |
8005-8007 |
, |
denotes |
, |
T1963 |
8007-8011 |
NN |
denotes |
Skin |
T1965 |
8011-8013 |
, |
denotes |
, |
T1966 |
8013-8016 |
CC |
denotes |
and |
T1967 |
8017-8021 |
NN |
denotes |
Hair |
T1964 |
8022-8030 |
NNS |
denotes |
Features |
T1968 |
8031-8033 |
IN |
denotes |
of |
T1969 |
8034-8037 |
NN |
denotes |
TTD |
T1970 |
8037-8259 |
sentence |
denotes |
To test the potential of a homozygous lethal “null” allele to nevertheless contribute to organismal phenotype, we combined an Xpd†XPCS allele with a viable XpdTTD allele by crossing the corresponding heterozygous animals. |
T1971 |
8038-8040 |
TO |
denotes |
To |
T1972 |
8041-8045 |
VB |
denotes |
test |
T1974 |
8046-8049 |
DT |
denotes |
the |
T1975 |
8050-8059 |
NN |
denotes |
potential |
T1976 |
8060-8062 |
IN |
denotes |
of |
T1977 |
8063-8064 |
DT |
denotes |
a |
T1979 |
8065-8075 |
JJ |
denotes |
homozygous |
T1980 |
8076-8082 |
JJ |
denotes |
lethal |
T1981 |
8083-8084 |
`` |
denotes |
“ |
T1982 |
8084-8088 |
JJ |
denotes |
null |
T1983 |
8088-8089 |
'' |
denotes |
” |
T1978 |
8090-8096 |
NN |
denotes |
allele |
T1984 |
8097-8099 |
TO |
denotes |
to |
T1986 |
8100-8112 |
RB |
denotes |
nevertheless |
T1985 |
8113-8123 |
VB |
denotes |
contribute |
T1987 |
8124-8126 |
IN |
denotes |
to |
T1988 |
8127-8137 |
JJ |
denotes |
organismal |
T1989 |
8138-8147 |
NN |
denotes |
phenotype |
T1990 |
8147-8149 |
, |
denotes |
, |
T1991 |
8149-8151 |
PRP |
denotes |
we |
T1973 |
8152-8160 |
VBD |
denotes |
combined |
T1992 |
8161-8163 |
DT |
denotes |
an |
T1994 |
8164-8172 |
NN |
denotes |
Xpd†XPCS |
T1993 |
8173-8179 |
NN |
denotes |
allele |
T1995 |
8180-8184 |
IN |
denotes |
with |
T1996 |
8185-8186 |
DT |
denotes |
a |
T1998 |
8187-8193 |
JJ |
denotes |
viable |
T1999 |
8194-8200 |
NN |
denotes |
XpdTTD |
T1997 |
8201-8207 |
NN |
denotes |
allele |
T2000 |
8208-8210 |
IN |
denotes |
by |
T2001 |
8211-8219 |
VBG |
denotes |
crossing |
T2002 |
8220-8223 |
DT |
denotes |
the |
T2004 |
8224-8237 |
VBG |
denotes |
corresponding |
T2005 |
8238-8250 |
JJ |
denotes |
heterozygous |
T2003 |
8251-8258 |
NNS |
denotes |
animals |
T2006 |
8258-8259 |
. |
denotes |
. |
T2007 |
8259-8430 |
sentence |
denotes |
Similar to hemizygous TTD mice carrying one true Xpd knockout allele (XpdTTD/KO), compound heterozygous XpdTTD/†XPCS mice were born at the expected Mendelian frequencies. |
T2008 |
8260-8267 |
JJ |
denotes |
Similar |
T2010 |
8268-8270 |
IN |
denotes |
to |
T2011 |
8271-8281 |
JJ |
denotes |
hemizygous |
T2013 |
8282-8285 |
NN |
denotes |
TTD |
T2012 |
8286-8290 |
NNS |
denotes |
mice |
T2014 |
8291-8299 |
VBG |
denotes |
carrying |
T2015 |
8300-8303 |
CD |
denotes |
one |
T2017 |
8304-8308 |
JJ |
denotes |
true |
T2018 |
8309-8312 |
NN |
denotes |
Xpd |
T2019 |
8313-8321 |
NN |
denotes |
knockout |
T2016 |
8322-8328 |
NN |
denotes |
allele |
T2020 |
8329-8330 |
-LRB- |
denotes |
( |
T2022 |
8330-8336 |
NN |
denotes |
XpdTTD |
T2023 |
8336-8337 |
HYPH |
denotes |
/ |
T2021 |
8337-8339 |
NN |
denotes |
KO |
T2024 |
8339-8340 |
-RRB- |
denotes |
) |
T2025 |
8340-8342 |
, |
denotes |
, |
T2026 |
8342-8350 |
NN |
denotes |
compound |
T2028 |
8351-8363 |
JJ |
denotes |
heterozygous |
T2029 |
8364-8370 |
NN |
denotes |
XpdTTD |
T2031 |
8370-8371 |
HYPH |
denotes |
/ |
T2030 |
8371-8376 |
NN |
denotes |
†XPCS |
T2027 |
8377-8381 |
NNS |
denotes |
mice |
T2032 |
8382-8386 |
VBD |
denotes |
were |
T2009 |
8387-8391 |
VBN |
denotes |
born |
T2033 |
8392-8394 |
IN |
denotes |
at |
T2034 |
8395-8398 |
DT |
denotes |
the |
T2036 |
8399-8407 |
VBN |
denotes |
expected |
T2037 |
8408-8417 |
JJ |
denotes |
Mendelian |
T2035 |
8418-8429 |
NNS |
denotes |
frequencies |
T2038 |
8429-8430 |
. |
denotes |
. |
T2039 |
8430-8626 |
sentence |
denotes |
Expression from the Xpd†XPCS allele was also reduced in the testis of compound heterozygous animals, whereas expression from the XpdTTD allele was increased relative to wt by ~5-fold (Figure 1E). |
T2040 |
8431-8441 |
NN |
denotes |
Expression |
T2042 |
8442-8446 |
IN |
denotes |
from |
T2043 |
8447-8450 |
DT |
denotes |
the |
T2045 |
8451-8459 |
NN |
denotes |
Xpd†XPCS |
T2044 |
8460-8466 |
NN |
denotes |
allele |
T2046 |
8467-8470 |
VBD |
denotes |
was |
T2047 |
8471-8475 |
RB |
denotes |
also |
T2041 |
8476-8483 |
VBN |
denotes |
reduced |
T2048 |
8484-8486 |
IN |
denotes |
in |
T2049 |
8487-8490 |
DT |
denotes |
the |
T2050 |
8491-8497 |
NN |
denotes |
testis |
T2051 |
8498-8500 |
IN |
denotes |
of |
T2052 |
8501-8509 |
NN |
denotes |
compound |
T2054 |
8510-8522 |
JJ |
denotes |
heterozygous |
T2053 |
8523-8530 |
NNS |
denotes |
animals |
T2055 |
8530-8532 |
, |
denotes |
, |
T2056 |
8532-8539 |
IN |
denotes |
whereas |
T2058 |
8540-8550 |
NN |
denotes |
expression |
T2059 |
8551-8555 |
IN |
denotes |
from |
T2060 |
8556-8559 |
DT |
denotes |
the |
T2062 |
8560-8566 |
NN |
denotes |
XpdTTD |
T2061 |
8567-8573 |
NN |
denotes |
allele |
T2063 |
8574-8577 |
VBD |
denotes |
was |
T2057 |
8578-8587 |
VBN |
denotes |
increased |
T2064 |
8588-8596 |
JJ |
denotes |
relative |
T2065 |
8597-8599 |
IN |
denotes |
to |
T2066 |
8600-8602 |
NN |
denotes |
wt |
T2067 |
8603-8605 |
IN |
denotes |
by |
T2068 |
8606-8607 |
SYM |
denotes |
~ |
T2069 |
8607-8613 |
RB |
denotes |
5-fold |
T2070 |
8614-8615 |
-LRB- |
denotes |
( |
T2072 |
8615-8621 |
NN |
denotes |
Figure |
T2071 |
8622-8624 |
NN |
denotes |
1E |
T2073 |
8624-8625 |
-RRB- |
denotes |
) |
T2074 |
8625-8626 |
. |
denotes |
. |
T2075 |
8626-8879 |
sentence |
denotes |
Because of a lack of available antibodies and the inability to distinguish amongst various mutant forms of XPD differing only by single amino acid substitutions, we were unable to ascertain the relative amount of XPD protein from the different alleles. |
T2076 |
8627-8634 |
IN |
denotes |
Because |
T2078 |
8635-8637 |
IN |
denotes |
of |
T2079 |
8638-8639 |
DT |
denotes |
a |
T2080 |
8640-8644 |
NN |
denotes |
lack |
T2081 |
8645-8647 |
IN |
denotes |
of |
T2082 |
8648-8657 |
JJ |
denotes |
available |
T2083 |
8658-8668 |
NNS |
denotes |
antibodies |
T2084 |
8669-8672 |
CC |
denotes |
and |
T2085 |
8673-8676 |
DT |
denotes |
the |
T2086 |
8677-8686 |
NN |
denotes |
inability |
T2087 |
8687-8689 |
TO |
denotes |
to |
T2088 |
8690-8701 |
VB |
denotes |
distinguish |
T2089 |
8702-8709 |
IN |
denotes |
amongst |
T2090 |
8710-8717 |
JJ |
denotes |
various |
T2092 |
8718-8724 |
JJ |
denotes |
mutant |
T2091 |
8725-8730 |
NNS |
denotes |
forms |
T2093 |
8731-8733 |
IN |
denotes |
of |
T2094 |
8734-8737 |
NN |
denotes |
XPD |
T2095 |
8738-8747 |
VBG |
denotes |
differing |
T2096 |
8748-8752 |
RB |
denotes |
only |
T2097 |
8753-8755 |
IN |
denotes |
by |
T2098 |
8756-8762 |
JJ |
denotes |
single |
T2100 |
8763-8768 |
NN |
denotes |
amino |
T2101 |
8769-8773 |
NN |
denotes |
acid |
T2099 |
8774-8787 |
NNS |
denotes |
substitutions |
T2102 |
8787-8789 |
, |
denotes |
, |
T2103 |
8789-8791 |
PRP |
denotes |
we |
T2077 |
8792-8796 |
VBD |
denotes |
were |
T2104 |
8797-8803 |
JJ |
denotes |
unable |
T2105 |
8804-8806 |
TO |
denotes |
to |
T2106 |
8807-8816 |
VB |
denotes |
ascertain |
T2107 |
8817-8820 |
DT |
denotes |
the |
T2109 |
8821-8829 |
JJ |
denotes |
relative |
T2108 |
8830-8836 |
NN |
denotes |
amount |
T2110 |
8837-8839 |
IN |
denotes |
of |
T2111 |
8840-8843 |
NN |
denotes |
XPD |
T2112 |
8844-8851 |
NN |
denotes |
protein |
T2113 |
8852-8856 |
IN |
denotes |
from |
T2114 |
8857-8860 |
DT |
denotes |
the |
T2116 |
8861-8870 |
JJ |
denotes |
different |
T2115 |
8871-8878 |
NNS |
denotes |
alleles |
T2117 |
8878-8879 |
. |
denotes |
. |
T2118 |
8879-9186 |
sentence |
denotes |
Despite reduced levels of mRNA expression, the homozygous lethal Xpd†XPCS allele ameliorated multiple XpdTTD-associated disease symptoms in compound heterozygous XpdTTD/†XPCS animals including the hallmark brittle hair and cutaneous features fully penetrant in homo- and hemizygous TTD mice (Figure 2A–2C). |
T2119 |
8880-8887 |
IN |
denotes |
Despite |
T2121 |
8888-8895 |
VBN |
denotes |
reduced |
T2122 |
8896-8902 |
NNS |
denotes |
levels |
T2123 |
8903-8905 |
IN |
denotes |
of |
T2124 |
8906-8910 |
NN |
denotes |
mRNA |
T2125 |
8911-8921 |
NN |
denotes |
expression |
T2126 |
8921-8923 |
, |
denotes |
, |
T2127 |
8923-8926 |
DT |
denotes |
the |
T2129 |
8927-8937 |
JJ |
denotes |
homozygous |
T2130 |
8938-8944 |
JJ |
denotes |
lethal |
T2131 |
8945-8953 |
NN |
denotes |
Xpd†XPCS |
T2128 |
8954-8960 |
NN |
denotes |
allele |
T2120 |
8961-8972 |
VBD |
denotes |
ameliorated |
T2132 |
8973-8981 |
JJ |
denotes |
multiple |
T2134 |
8982-8988 |
NN |
denotes |
XpdTTD |
T2136 |
8988-8989 |
HYPH |
denotes |
- |
T2135 |
8989-8999 |
JJ |
denotes |
associated |
T2137 |
9000-9007 |
NN |
denotes |
disease |
T2133 |
9008-9016 |
NNS |
denotes |
symptoms |
T2138 |
9017-9019 |
IN |
denotes |
in |
T2139 |
9020-9028 |
JJ |
denotes |
compound |
T2141 |
9029-9041 |
JJ |
denotes |
heterozygous |
T2142 |
9042-9048 |
NN |
denotes |
XpdTTD |
T2144 |
9048-9049 |
HYPH |
denotes |
/ |
T2143 |
9049-9054 |
NN |
denotes |
†XPCS |
T2140 |
9055-9062 |
NNS |
denotes |
animals |
T2145 |
9063-9072 |
VBG |
denotes |
including |
T2146 |
9073-9076 |
DT |
denotes |
the |
T2148 |
9077-9085 |
NN |
denotes |
hallmark |
T2149 |
9086-9093 |
JJ |
denotes |
brittle |
T2147 |
9094-9098 |
NN |
denotes |
hair |
T2150 |
9099-9102 |
CC |
denotes |
and |
T2151 |
9103-9112 |
JJ |
denotes |
cutaneous |
T2152 |
9113-9121 |
NNS |
denotes |
features |
T2153 |
9122-9127 |
RB |
denotes |
fully |
T2154 |
9128-9137 |
JJ |
denotes |
penetrant |
T2155 |
9138-9140 |
IN |
denotes |
in |
T2156 |
9141-9145 |
AFX |
denotes |
homo |
T2158 |
9145-9146 |
HYPH |
denotes |
- |
T2159 |
9147-9150 |
CC |
denotes |
and |
T2157 |
9151-9161 |
JJ |
denotes |
hemizygous |
T2161 |
9162-9165 |
NN |
denotes |
TTD |
T2160 |
9166-9170 |
NNS |
denotes |
mice |
T2162 |
9171-9172 |
-LRB- |
denotes |
( |
T2164 |
9172-9178 |
NN |
denotes |
Figure |
T2163 |
9179-9181 |
NN |
denotes |
2A |
T2165 |
9181-9182 |
SYM |
denotes |
– |
T2166 |
9182-9184 |
NN |
denotes |
2C |
T2167 |
9184-9185 |
-RRB- |
denotes |
) |
T2168 |
9185-9186 |
. |
denotes |
. |
T2169 |
9186-9510 |
sentence |
denotes |
In marked contrast to XpdTTD/TTD (and XpdTTD/KO) mice, which display complete hair loss in the first hair cycle and partial hair loss in subsequent cycles throughout their lives [21], compound heterozygous XpdTTD/†XPCS mice displayed some hair loss only during the first hair cycle and only locally at the back (Figure 2A). |
T2170 |
9187-9189 |
IN |
denotes |
In |
T2172 |
9190-9196 |
JJ |
denotes |
marked |
T2173 |
9197-9205 |
NN |
denotes |
contrast |
T2174 |
9206-9208 |
IN |
denotes |
to |
T2175 |
9209-9215 |
NN |
denotes |
XpdTTD |
T2177 |
9215-9216 |
HYPH |
denotes |
/ |
T2176 |
9216-9219 |
NN |
denotes |
TTD |
T2179 |
9220-9221 |
-LRB- |
denotes |
( |
T2180 |
9221-9224 |
CC |
denotes |
and |
T2181 |
9225-9231 |
NN |
denotes |
XpdTTD |
T2183 |
9231-9232 |
HYPH |
denotes |
/ |
T2182 |
9232-9234 |
NN |
denotes |
KO |
T2184 |
9234-9235 |
-RRB- |
denotes |
) |
T2178 |
9236-9240 |
NNS |
denotes |
mice |
T2185 |
9240-9242 |
, |
denotes |
, |
T2186 |
9242-9247 |
WDT |
denotes |
which |
T2187 |
9248-9255 |
VBP |
denotes |
display |
T2188 |
9256-9264 |
JJ |
denotes |
complete |
T2190 |
9265-9269 |
NN |
denotes |
hair |
T2189 |
9270-9274 |
NN |
denotes |
loss |
T2191 |
9275-9277 |
IN |
denotes |
in |
T2192 |
9278-9281 |
DT |
denotes |
the |
T2194 |
9282-9287 |
JJ |
denotes |
first |
T2195 |
9288-9292 |
NN |
denotes |
hair |
T2193 |
9293-9298 |
NN |
denotes |
cycle |
T2196 |
9299-9302 |
CC |
denotes |
and |
T2197 |
9303-9310 |
JJ |
denotes |
partial |
T2199 |
9311-9315 |
NN |
denotes |
hair |
T2198 |
9316-9320 |
NN |
denotes |
loss |
T2200 |
9321-9323 |
IN |
denotes |
in |
T2201 |
9324-9334 |
JJ |
denotes |
subsequent |
T2202 |
9335-9341 |
NNS |
denotes |
cycles |
T2203 |
9342-9352 |
IN |
denotes |
throughout |
T2204 |
9353-9358 |
PRP$ |
denotes |
their |
T2205 |
9359-9364 |
NNS |
denotes |
lives |
T2206 |
9365-9366 |
-LRB- |
denotes |
[ |
T2207 |
9366-9368 |
CD |
denotes |
21 |
T2208 |
9368-9369 |
-RRB- |
denotes |
] |
T2209 |
9369-9371 |
, |
denotes |
, |
T2210 |
9371-9379 |
NN |
denotes |
compound |
T2212 |
9380-9392 |
JJ |
denotes |
heterozygous |
T2213 |
9393-9405 |
NN |
denotes |
XpdTTD/†XPCS |
T2211 |
9406-9410 |
NNS |
denotes |
mice |
T2171 |
9411-9420 |
VBD |
denotes |
displayed |
T2214 |
9421-9425 |
DT |
denotes |
some |
T2216 |
9426-9430 |
NN |
denotes |
hair |
T2215 |
9431-9435 |
NN |
denotes |
loss |
T2217 |
9436-9440 |
RB |
denotes |
only |
T2218 |
9441-9447 |
IN |
denotes |
during |
T2219 |
9448-9451 |
DT |
denotes |
the |
T2221 |
9452-9457 |
JJ |
denotes |
first |
T2222 |
9458-9462 |
NN |
denotes |
hair |
T2220 |
9463-9468 |
NN |
denotes |
cycle |
T2223 |
9469-9472 |
CC |
denotes |
and |
T2224 |
9473-9477 |
RB |
denotes |
only |
T2225 |
9478-9485 |
RB |
denotes |
locally |
T2226 |
9486-9488 |
IN |
denotes |
at |
T2227 |
9489-9492 |
DT |
denotes |
the |
T2228 |
9493-9497 |
NN |
denotes |
back |
T2229 |
9498-9499 |
-LRB- |
denotes |
( |
T2231 |
9499-9505 |
NN |
denotes |
Figure |
T2230 |
9506-9508 |
NN |
denotes |
2A |
T2232 |
9508-9509 |
-RRB- |
denotes |
) |
T2233 |
9509-9510 |
. |
denotes |
. |
T2234 |
9510-9704 |
sentence |
denotes |
Scanning electron microscope analysis of XpdTTD/†XPCS hair revealed an almost normal appearance, with TTD-like features such as broken hairs found only at very low frequency (unpublished data). |
T2235 |
9511-9519 |
NN |
denotes |
Scanning |
T2237 |
9520-9528 |
NN |
denotes |
electron |
T2236 |
9529-9539 |
NN |
denotes |
microscope |
T2238 |
9540-9548 |
NN |
denotes |
analysis |
T2240 |
9549-9551 |
IN |
denotes |
of |
T2241 |
9552-9558 |
NN |
denotes |
XpdTTD |
T2243 |
9558-9559 |
HYPH |
denotes |
/ |
T2242 |
9559-9564 |
NN |
denotes |
†XPCS |
T2244 |
9565-9569 |
NN |
denotes |
hair |
T2239 |
9570-9578 |
VBD |
denotes |
revealed |
T2245 |
9579-9581 |
DT |
denotes |
an |
T2247 |
9582-9588 |
RB |
denotes |
almost |
T2248 |
9589-9595 |
JJ |
denotes |
normal |
T2246 |
9596-9606 |
NN |
denotes |
appearance |
T2249 |
9606-9608 |
, |
denotes |
, |
T2250 |
9608-9612 |
IN |
denotes |
with |
T2251 |
9613-9616 |
NN |
denotes |
TTD |
T2253 |
9616-9617 |
HYPH |
denotes |
- |
T2252 |
9617-9621 |
JJ |
denotes |
like |
T2254 |
9622-9630 |
NNS |
denotes |
features |
T2255 |
9631-9635 |
JJ |
denotes |
such |
T2256 |
9636-9638 |
IN |
denotes |
as |
T2257 |
9639-9645 |
JJ |
denotes |
broken |
T2258 |
9646-9651 |
NNS |
denotes |
hairs |
T2259 |
9652-9657 |
VBN |
denotes |
found |
T2260 |
9658-9662 |
RB |
denotes |
only |
T2261 |
9663-9665 |
IN |
denotes |
at |
T2262 |
9666-9670 |
RB |
denotes |
very |
T2263 |
9671-9674 |
JJ |
denotes |
low |
T2264 |
9675-9684 |
NN |
denotes |
frequency |
T2265 |
9685-9686 |
-LRB- |
denotes |
( |
T2267 |
9686-9697 |
JJ |
denotes |
unpublished |
T2266 |
9698-9702 |
NNS |
denotes |
data |
T2268 |
9702-9703 |
-RRB- |
denotes |
) |
T2269 |
9703-9704 |
. |
denotes |
. |
T2270 |
9704-9891 |
sentence |
denotes |
Amino acid analysis confirmed that cysteine levels in the hair of the XpdTTD/†XPCS mice were significantly higher than in XpdTTD/TTD animals, but remained below the wt level (Figure 2C). |
T2271 |
9705-9710 |
NN |
denotes |
Amino |
T2272 |
9711-9715 |
NN |
denotes |
acid |
T2273 |
9716-9724 |
NN |
denotes |
analysis |
T2274 |
9725-9734 |
VBD |
denotes |
confirmed |
T2275 |
9735-9739 |
IN |
denotes |
that |
T2277 |
9740-9748 |
NN |
denotes |
cysteine |
T2278 |
9749-9755 |
NNS |
denotes |
levels |
T2279 |
9756-9758 |
IN |
denotes |
in |
T2280 |
9759-9762 |
DT |
denotes |
the |
T2281 |
9763-9767 |
NN |
denotes |
hair |
T2282 |
9768-9770 |
IN |
denotes |
of |
T2283 |
9771-9774 |
DT |
denotes |
the |
T2285 |
9775-9781 |
NN |
denotes |
XpdTTD |
T2287 |
9781-9782 |
HYPH |
denotes |
/ |
T2286 |
9782-9787 |
NN |
denotes |
†XPCS |
T2284 |
9788-9792 |
NNS |
denotes |
mice |
T2276 |
9793-9797 |
VBD |
denotes |
were |
T2288 |
9798-9811 |
RB |
denotes |
significantly |
T2289 |
9812-9818 |
JJR |
denotes |
higher |
T2290 |
9819-9823 |
IN |
denotes |
than |
T2291 |
9824-9826 |
IN |
denotes |
in |
T2292 |
9827-9833 |
NN |
denotes |
XpdTTD |
T2294 |
9833-9834 |
HYPH |
denotes |
/ |
T2293 |
9834-9837 |
NN |
denotes |
TTD |
T2295 |
9838-9845 |
NNS |
denotes |
animals |
T2296 |
9845-9847 |
, |
denotes |
, |
T2297 |
9847-9850 |
CC |
denotes |
but |
T2298 |
9851-9859 |
VBD |
denotes |
remained |
T2299 |
9860-9865 |
IN |
denotes |
below |
T2300 |
9866-9869 |
DT |
denotes |
the |
T2302 |
9870-9872 |
NN |
denotes |
wt |
T2301 |
9873-9878 |
NN |
denotes |
level |
T2303 |
9879-9880 |
-LRB- |
denotes |
( |
T2305 |
9880-9886 |
NN |
denotes |
Figure |
T2304 |
9887-9889 |
NN |
denotes |
2C |
T2306 |
9889-9890 |
-RRB- |
denotes |
) |
T2307 |
9890-9891 |
. |
denotes |
. |
T2308 |
9891-10039 |
sentence |
denotes |
TTD hemizygotes (XpdTTD/KO) do not display significant differences in cutaneous features and longevity relative to homozygous XpdTTD/TTD mice [21]. |
T2309 |
9892-9895 |
NN |
denotes |
TTD |
T2310 |
9896-9907 |
NNS |
denotes |
hemizygotes |
T2312 |
9908-9909 |
-LRB- |
denotes |
( |
T2314 |
9909-9915 |
NN |
denotes |
XpdTTD |
T2315 |
9915-9916 |
HYPH |
denotes |
/ |
T2313 |
9916-9918 |
NN |
denotes |
KO |
T2316 |
9918-9919 |
-RRB- |
denotes |
) |
T2317 |
9920-9922 |
VBP |
denotes |
do |
T2318 |
9923-9926 |
RB |
denotes |
not |
T2311 |
9927-9934 |
VB |
denotes |
display |
T2319 |
9935-9946 |
JJ |
denotes |
significant |
T2320 |
9947-9958 |
NNS |
denotes |
differences |
T2321 |
9959-9961 |
IN |
denotes |
in |
T2322 |
9962-9971 |
JJ |
denotes |
cutaneous |
T2323 |
9972-9980 |
NNS |
denotes |
features |
T2324 |
9981-9984 |
CC |
denotes |
and |
T2325 |
9985-9994 |
NN |
denotes |
longevity |
T2326 |
9995-10003 |
JJ |
denotes |
relative |
T2327 |
10004-10006 |
IN |
denotes |
to |
T2328 |
10007-10017 |
JJ |
denotes |
homozygous |
T2330 |
10018-10024 |
NN |
denotes |
XpdTTD |
T2332 |
10024-10025 |
HYPH |
denotes |
/ |
T2331 |
10025-10028 |
NN |
denotes |
TTD |
T2329 |
10029-10033 |
NNS |
denotes |
mice |
T2333 |
10034-10035 |
-LRB- |
denotes |
[ |
T2334 |
10035-10037 |
CD |
denotes |
21 |
T2335 |
10037-10038 |
-RRB- |
denotes |
] |
T2336 |
10038-10039 |
. |
denotes |
. |
T2337 |
10039-11699 |
sentence |
denotes |
Figure 2 Partial Rescue of TTD Cutaneous, Blood, and Developmental Phenotypes in Compound Heterozygous XpdTTD/†XPCS Mice
(A) Photographs of 5-mo-old homozygous XpdTTD/TTD, compound heterozygous XpdTTD/†XPCS, and wt mice. Insets: images of first-round hair loss.
(B) Histological analysis of the skin of XpdTTD/TTD, XpdTTD/†XPCS, and wt mice. TTD-associated acanthosis (thicker epidermis, indicated by solid vertical line), pronounced granular layer (indicated by arrows), and sebacious gland hyperplasia (indicated by dotted vertical line) were absent in the epidermis of XpdTTD/†XPCS and wt mice. Magnification 400×.
(C) Cysteine content of hair from wt, XpdTTD/TTD, and XpdTTD/†XPCS mice. The p-value indicates significant differences between mutants and wt, as well as between XpdTTD/TTD and XpdTTD/†XPCS mice. Error bars indicate standard error of the mean (SEM).
(D) Hematocrit values from blood of XpdTTD/TTD and XpdTTD/†XPCS mice. The p-values indicate the significance of the difference relative to wt. Error bars indicate SEM.
(E) Body weights of developing XpdTTD/TTD and XpdTTD/†XPCS mice after weaning plotted as a percentage of the weight of age-matched control wt and heterozygote (hz) littermates (set at 100%). Error bars indicate SEM. Other prominent TTD features in the epidermis, including acanthosis (thickening of the layer of the nucleated cells), hyperkeratosis (prominent thickening of the cornified layer), and pronounced granular layer and sebacious gland hyperplasia (causing greasy appearance of the hair), were absent in the skin of XpdTTD/†XPCS mice, as established by blind microscopic examination of skin sections (Figure 2B). |
T7658 |
10050-10057 |
JJ |
denotes |
Partial |
T7659 |
10058-10064 |
NN |
denotes |
Rescue |
T7660 |
10065-10067 |
IN |
denotes |
of |
T7661 |
10068-10071 |
NN |
denotes |
TTD |
T7662 |
10072-10081 |
JJ |
denotes |
Cutaneous |
T7663 |
10081-10083 |
, |
denotes |
, |
T7664 |
10083-10088 |
NN |
denotes |
Blood |
T7665 |
10088-10090 |
, |
denotes |
, |
T7666 |
10090-10093 |
CC |
denotes |
and |
T7667 |
10094-10107 |
JJ |
denotes |
Developmental |
T7668 |
10108-10118 |
NNS |
denotes |
Phenotypes |
T7669 |
10119-10121 |
IN |
denotes |
in |
T7670 |
10122-10130 |
NN |
denotes |
Compound |
T7672 |
10131-10143 |
JJ |
denotes |
Heterozygous |
T7673 |
10144-10150 |
NN |
denotes |
XpdTTD |
T7675 |
10150-10151 |
HYPH |
denotes |
/ |
T7674 |
10151-10156 |
NN |
denotes |
†XPCS |
T7671 |
10157-10161 |
NNS |
denotes |
Mice |
T7676 |
10161-10261 |
sentence |
denotes |
(A) Photographs of 5-mo-old homozygous XpdTTD/TTD, compound heterozygous XpdTTD/†XPCS, and wt mice. |
T7677 |
10162-10163 |
-LRB- |
denotes |
( |
T7678 |
10163-10164 |
LS |
denotes |
A |
T7680 |
10164-10165 |
-RRB- |
denotes |
) |
T7679 |
10166-10177 |
NNS |
denotes |
Photographs |
T7681 |
10178-10180 |
IN |
denotes |
of |
T7682 |
10181-10182 |
CD |
denotes |
5 |
T7684 |
10182-10183 |
HYPH |
denotes |
- |
T7683 |
10183-10185 |
NN |
denotes |
mo |
T7686 |
10185-10186 |
HYPH |
denotes |
- |
T7685 |
10186-10189 |
JJ |
denotes |
old |
T7688 |
10190-10200 |
JJ |
denotes |
homozygous |
T7690 |
10201-10207 |
NN |
denotes |
XpdTTD |
T7691 |
10207-10208 |
HYPH |
denotes |
/ |
T7689 |
10208-10211 |
NN |
denotes |
TTD |
T7692 |
10211-10213 |
, |
denotes |
, |
T7693 |
10213-10221 |
NN |
denotes |
compound |
T7695 |
10222-10234 |
JJ |
denotes |
heterozygous |
T7696 |
10235-10241 |
NN |
denotes |
XpdTTD |
T7697 |
10241-10242 |
HYPH |
denotes |
/ |
T7694 |
10242-10247 |
NN |
denotes |
†XPCS |
T7698 |
10247-10249 |
, |
denotes |
, |
T7699 |
10249-10252 |
CC |
denotes |
and |
T7700 |
10253-10255 |
NN |
denotes |
wt |
T7687 |
10256-10260 |
NNS |
denotes |
mice |
T7701 |
10260-10261 |
. |
denotes |
. |
T7702 |
10261-10302 |
sentence |
denotes |
Insets: images of first-round hair loss. |
T7703 |
10262-10268 |
NNS |
denotes |
Insets |
T7704 |
10268-10270 |
: |
denotes |
: |
T7705 |
10270-10276 |
NNS |
denotes |
images |
T7706 |
10277-10279 |
IN |
denotes |
of |
T7707 |
10280-10285 |
JJ |
denotes |
first |
T7709 |
10285-10286 |
HYPH |
denotes |
- |
T7708 |
10286-10291 |
NN |
denotes |
round |
T7711 |
10292-10296 |
NN |
denotes |
hair |
T7710 |
10297-10301 |
NN |
denotes |
loss |
T7712 |
10301-10302 |
. |
denotes |
. |
T7713 |
10302-10382 |
sentence |
denotes |
(B) Histological analysis of the skin of XpdTTD/TTD, XpdTTD/†XPCS, and wt mice. |
T7714 |
10303-10304 |
-LRB- |
denotes |
( |
T7715 |
10304-10305 |
LS |
denotes |
B |
T7717 |
10305-10306 |
-RRB- |
denotes |
) |
T7718 |
10307-10319 |
JJ |
denotes |
Histological |
T7716 |
10320-10328 |
NN |
denotes |
analysis |
T7719 |
10329-10331 |
IN |
denotes |
of |
T7720 |
10332-10335 |
DT |
denotes |
the |
T7721 |
10336-10340 |
NN |
denotes |
skin |
T7722 |
10341-10343 |
IN |
denotes |
of |
T7723 |
10344-10350 |
NN |
denotes |
XpdTTD |
T7725 |
10350-10351 |
HYPH |
denotes |
/ |
T7724 |
10351-10354 |
NN |
denotes |
TTD |
T7727 |
10354-10356 |
, |
denotes |
, |
T7728 |
10356-10362 |
NN |
denotes |
XpdTTD |
T7730 |
10362-10363 |
HYPH |
denotes |
/ |
T7729 |
10363-10368 |
NN |
denotes |
†XPCS |
T7731 |
10368-10370 |
, |
denotes |
, |
T7732 |
10370-10373 |
CC |
denotes |
and |
T7733 |
10374-10376 |
NN |
denotes |
wt |
T7726 |
10377-10381 |
NNS |
denotes |
mice |
T7734 |
10381-10382 |
. |
denotes |
. |
T7735 |
10382-10638 |
sentence |
denotes |
TTD-associated acanthosis (thicker epidermis, indicated by solid vertical line), pronounced granular layer (indicated by arrows), and sebacious gland hyperplasia (indicated by dotted vertical line) were absent in the epidermis of XpdTTD/†XPCS and wt mice. |
T7736 |
10383-10386 |
NN |
denotes |
TTD |
T7738 |
10386-10387 |
HYPH |
denotes |
- |
T7737 |
10387-10397 |
JJ |
denotes |
associated |
T7739 |
10398-10408 |
NN |
denotes |
acanthosis |
T7741 |
10409-10410 |
-LRB- |
denotes |
( |
T7743 |
10410-10417 |
JJR |
denotes |
thicker |
T7742 |
10418-10427 |
NN |
denotes |
epidermis |
T7744 |
10427-10429 |
, |
denotes |
, |
T7745 |
10429-10438 |
VBN |
denotes |
indicated |
T7746 |
10439-10441 |
IN |
denotes |
by |
T7747 |
10442-10447 |
JJ |
denotes |
solid |
T7749 |
10448-10456 |
JJ |
denotes |
vertical |
T7748 |
10457-10461 |
NN |
denotes |
line |
T7750 |
10461-10462 |
-RRB- |
denotes |
) |
T7751 |
10462-10464 |
, |
denotes |
, |
T7752 |
10464-10474 |
VBN |
denotes |
pronounced |
T7754 |
10475-10483 |
JJ |
denotes |
granular |
T7753 |
10484-10489 |
NN |
denotes |
layer |
T7755 |
10490-10491 |
-LRB- |
denotes |
( |
T7756 |
10491-10500 |
VBN |
denotes |
indicated |
T7757 |
10501-10503 |
IN |
denotes |
by |
T7758 |
10504-10510 |
NNS |
denotes |
arrows |
T7759 |
10510-10511 |
-RRB- |
denotes |
) |
T7760 |
10511-10513 |
, |
denotes |
, |
T7761 |
10513-10516 |
CC |
denotes |
and |
T7762 |
10517-10526 |
JJ |
denotes |
sebacious |
T7764 |
10527-10532 |
NN |
denotes |
gland |
T7763 |
10533-10544 |
NN |
denotes |
hyperplasia |
T7765 |
10545-10546 |
-LRB- |
denotes |
( |
T7766 |
10546-10555 |
VBN |
denotes |
indicated |
T7767 |
10556-10558 |
IN |
denotes |
by |
T7768 |
10559-10565 |
VBN |
denotes |
dotted |
T7770 |
10566-10574 |
JJ |
denotes |
vertical |
T7769 |
10575-10579 |
NN |
denotes |
line |
T7771 |
10579-10580 |
-RRB- |
denotes |
) |
T7740 |
10581-10585 |
VBD |
denotes |
were |
T7772 |
10586-10592 |
JJ |
denotes |
absent |
T7773 |
10593-10595 |
IN |
denotes |
in |
T7774 |
10596-10599 |
DT |
denotes |
the |
T7775 |
10600-10609 |
NN |
denotes |
epidermis |
T7776 |
10610-10612 |
IN |
denotes |
of |
T7777 |
10613-10619 |
NN |
denotes |
XpdTTD |
T7779 |
10619-10620 |
HYPH |
denotes |
/ |
T7778 |
10620-10625 |
NN |
denotes |
†XPCS |
T7781 |
10626-10629 |
CC |
denotes |
and |
T7782 |
10630-10632 |
NN |
denotes |
wt |
T7780 |
10633-10637 |
NNS |
denotes |
mice |
T7783 |
10637-10638 |
. |
denotes |
. |
T7784 |
10638-10658 |
sentence |
denotes |
Magnification 400×. |
T7785 |
10639-10652 |
NN |
denotes |
Magnification |
T7786 |
10653-10656 |
CD |
denotes |
400 |
T7787 |
10656-10657 |
SYM |
denotes |
× |
T7788 |
10657-10658 |
. |
denotes |
. |
T7789 |
10658-10731 |
sentence |
denotes |
(C) Cysteine content of hair from wt, XpdTTD/TTD, and XpdTTD/†XPCS mice. |
T7790 |
10659-10660 |
-LRB- |
denotes |
( |
T7791 |
10660-10661 |
LS |
denotes |
C |
T7793 |
10661-10662 |
-RRB- |
denotes |
) |
T7794 |
10663-10671 |
NN |
denotes |
Cysteine |
T7792 |
10672-10679 |
NN |
denotes |
content |
T7795 |
10680-10682 |
IN |
denotes |
of |
T7796 |
10683-10687 |
NN |
denotes |
hair |
T7797 |
10688-10692 |
IN |
denotes |
from |
T7798 |
10693-10695 |
NN |
denotes |
wt |
T7800 |
10695-10697 |
, |
denotes |
, |
T7801 |
10697-10703 |
NN |
denotes |
XpdTTD |
T7803 |
10703-10704 |
HYPH |
denotes |
/ |
T7802 |
10704-10707 |
NN |
denotes |
TTD |
T7804 |
10707-10709 |
, |
denotes |
, |
T7805 |
10709-10712 |
CC |
denotes |
and |
T7806 |
10713-10719 |
NN |
denotes |
XpdTTD |
T7808 |
10719-10720 |
HYPH |
denotes |
/ |
T7807 |
10720-10725 |
NN |
denotes |
†XPCS |
T7799 |
10726-10730 |
NNS |
denotes |
mice |
T7809 |
10730-10731 |
. |
denotes |
. |
T7810 |
10731-10854 |
sentence |
denotes |
The p-value indicates significant differences between mutants and wt, as well as between XpdTTD/TTD and XpdTTD/†XPCS mice. |
T7811 |
10732-10735 |
DT |
denotes |
The |
T7813 |
10736-10737 |
NN |
denotes |
p |
T7814 |
10737-10738 |
HYPH |
denotes |
- |
T7812 |
10738-10743 |
NN |
denotes |
value |
T7815 |
10744-10753 |
VBZ |
denotes |
indicates |
T7816 |
10754-10765 |
JJ |
denotes |
significant |
T7817 |
10766-10777 |
NNS |
denotes |
differences |
T7818 |
10778-10785 |
IN |
denotes |
between |
T7819 |
10786-10793 |
NNS |
denotes |
mutants |
T7820 |
10794-10797 |
CC |
denotes |
and |
T7821 |
10798-10800 |
NN |
denotes |
wt |
T7822 |
10800-10802 |
, |
denotes |
, |
T7823 |
10802-10804 |
RB |
denotes |
as |
T7825 |
10805-10809 |
RB |
denotes |
well |
T7824 |
10810-10812 |
IN |
denotes |
as |
T7826 |
10813-10820 |
IN |
denotes |
between |
T7827 |
10821-10827 |
NN |
denotes |
XpdTTD |
T7829 |
10827-10828 |
HYPH |
denotes |
/ |
T7828 |
10828-10831 |
NN |
denotes |
TTD |
T7831 |
10832-10835 |
CC |
denotes |
and |
T7832 |
10836-10842 |
NN |
denotes |
XpdTTD |
T7834 |
10842-10843 |
HYPH |
denotes |
/ |
T7833 |
10843-10848 |
NN |
denotes |
†XPCS |
T7830 |
10849-10853 |
NNS |
denotes |
mice |
T7835 |
10853-10854 |
. |
denotes |
. |
T7836 |
10854-10908 |
sentence |
denotes |
Error bars indicate standard error of the mean (SEM). |
T7837 |
10855-10860 |
NN |
denotes |
Error |
T7838 |
10861-10865 |
NNS |
denotes |
bars |
T7839 |
10866-10874 |
VBP |
denotes |
indicate |
T7840 |
10875-10883 |
JJ |
denotes |
standard |
T7841 |
10884-10889 |
NN |
denotes |
error |
T7842 |
10890-10892 |
IN |
denotes |
of |
T7843 |
10893-10896 |
DT |
denotes |
the |
T7844 |
10897-10901 |
NN |
denotes |
mean |
T7845 |
10902-10903 |
-LRB- |
denotes |
( |
T7846 |
10903-10906 |
NN |
denotes |
SEM |
T7847 |
10906-10907 |
-RRB- |
denotes |
) |
T7848 |
10907-10908 |
. |
denotes |
. |
T7849 |
10908-10978 |
sentence |
denotes |
(D) Hematocrit values from blood of XpdTTD/TTD and XpdTTD/†XPCS mice. |
T7850 |
10909-10910 |
-LRB- |
denotes |
( |
T7851 |
10910-10911 |
LS |
denotes |
D |
T7853 |
10911-10912 |
-RRB- |
denotes |
) |
T7854 |
10913-10923 |
NN |
denotes |
Hematocrit |
T7852 |
10924-10930 |
NNS |
denotes |
values |
T7855 |
10931-10935 |
IN |
denotes |
from |
T7856 |
10936-10941 |
NN |
denotes |
blood |
T7857 |
10942-10944 |
IN |
denotes |
of |
T7858 |
10945-10951 |
NN |
denotes |
XpdTTD |
T7860 |
10951-10952 |
HYPH |
denotes |
/ |
T7859 |
10952-10955 |
NN |
denotes |
TTD |
T7862 |
10956-10959 |
CC |
denotes |
and |
T7863 |
10960-10966 |
NN |
denotes |
XpdTTD |
T7865 |
10966-10967 |
HYPH |
denotes |
/ |
T7864 |
10967-10972 |
NN |
denotes |
†XPCS |
T7861 |
10973-10977 |
NNS |
denotes |
mice |
T7866 |
10977-10978 |
. |
denotes |
. |
T7867 |
10978-11051 |
sentence |
denotes |
The p-values indicate the significance of the difference relative to wt. |
T7868 |
10979-10982 |
DT |
denotes |
The |
T7870 |
10983-10984 |
NN |
denotes |
p |
T7871 |
10984-10985 |
HYPH |
denotes |
- |
T7869 |
10985-10991 |
NNS |
denotes |
values |
T7872 |
10992-11000 |
VBP |
denotes |
indicate |
T7873 |
11001-11004 |
DT |
denotes |
the |
T7874 |
11005-11017 |
NN |
denotes |
significance |
T7875 |
11018-11020 |
IN |
denotes |
of |
T7876 |
11021-11024 |
DT |
denotes |
the |
T7877 |
11025-11035 |
NN |
denotes |
difference |
T7878 |
11036-11044 |
JJ |
denotes |
relative |
T7879 |
11045-11047 |
IN |
denotes |
to |
T7880 |
11048-11050 |
NN |
denotes |
wt |
T7881 |
11050-11051 |
. |
denotes |
. |
T7882 |
11051-11076 |
sentence |
denotes |
Error bars indicate SEM. |
T7883 |
11052-11057 |
NN |
denotes |
Error |
T7884 |
11058-11062 |
NNS |
denotes |
bars |
T7885 |
11063-11071 |
VBP |
denotes |
indicate |
T7886 |
11072-11075 |
NN |
denotes |
SEM |
T7887 |
11075-11076 |
. |
denotes |
. |
T7888 |
11076-11267 |
sentence |
denotes |
(E) Body weights of developing XpdTTD/TTD and XpdTTD/†XPCS mice after weaning plotted as a percentage of the weight of age-matched control wt and heterozygote (hz) littermates (set at 100%). |
T7889 |
11077-11078 |
-LRB- |
denotes |
( |
T7890 |
11078-11079 |
LS |
denotes |
E |
T7892 |
11079-11080 |
-RRB- |
denotes |
) |
T7893 |
11081-11085 |
NN |
denotes |
Body |
T7891 |
11086-11093 |
NNS |
denotes |
weights |
T7894 |
11094-11096 |
IN |
denotes |
of |
T7895 |
11097-11107 |
VBG |
denotes |
developing |
T7897 |
11108-11114 |
NN |
denotes |
XpdTTD |
T7899 |
11114-11115 |
HYPH |
denotes |
/ |
T7898 |
11115-11118 |
NN |
denotes |
TTD |
T7900 |
11119-11122 |
CC |
denotes |
and |
T7901 |
11123-11129 |
NN |
denotes |
XpdTTD |
T7903 |
11129-11130 |
HYPH |
denotes |
/ |
T7902 |
11130-11135 |
NN |
denotes |
†XPCS |
T7896 |
11136-11140 |
NNS |
denotes |
mice |
T7904 |
11141-11146 |
IN |
denotes |
after |
T7905 |
11147-11154 |
VBG |
denotes |
weaning |
T7906 |
11155-11162 |
VBN |
denotes |
plotted |
T7907 |
11163-11165 |
IN |
denotes |
as |
T7908 |
11166-11167 |
DT |
denotes |
a |
T7909 |
11168-11178 |
NN |
denotes |
percentage |
T7910 |
11179-11181 |
IN |
denotes |
of |
T7911 |
11182-11185 |
DT |
denotes |
the |
T7912 |
11186-11192 |
NN |
denotes |
weight |
T7913 |
11193-11195 |
IN |
denotes |
of |
T7914 |
11196-11199 |
NN |
denotes |
age |
T7916 |
11199-11200 |
HYPH |
denotes |
- |
T7915 |
11200-11207 |
JJ |
denotes |
matched |
T7918 |
11208-11215 |
NN |
denotes |
control |
T7919 |
11216-11218 |
NN |
denotes |
wt |
T7920 |
11219-11222 |
CC |
denotes |
and |
T7921 |
11223-11235 |
NN |
denotes |
heterozygote |
T7922 |
11236-11237 |
-LRB- |
denotes |
( |
T7923 |
11237-11239 |
NN |
denotes |
hz |
T7924 |
11239-11240 |
-RRB- |
denotes |
) |
T7917 |
11241-11252 |
NNS |
denotes |
littermates |
T7925 |
11253-11254 |
-LRB- |
denotes |
( |
T7926 |
11254-11257 |
VBN |
denotes |
set |
T7927 |
11258-11260 |
IN |
denotes |
at |
T7928 |
11261-11264 |
CD |
denotes |
100 |
T7929 |
11264-11265 |
NN |
denotes |
% |
T7930 |
11265-11266 |
-RRB- |
denotes |
) |
T7931 |
11266-11267 |
. |
denotes |
. |
T7932 |
11267-11292 |
sentence |
denotes |
Error bars indicate SEM. |
T7933 |
11268-11273 |
NN |
denotes |
Error |
T7934 |
11274-11278 |
NNS |
denotes |
bars |
T7935 |
11279-11287 |
VBP |
denotes |
indicate |
T7936 |
11288-11291 |
NN |
denotes |
SEM |
T7937 |
11291-11292 |
. |
denotes |
. |
T2338 |
11293-11298 |
JJ |
denotes |
Other |
T2340 |
11299-11308 |
JJ |
denotes |
prominent |
T2341 |
11309-11312 |
NN |
denotes |
TTD |
T2339 |
11313-11321 |
NNS |
denotes |
features |
T2343 |
11322-11324 |
IN |
denotes |
in |
T2344 |
11325-11328 |
DT |
denotes |
the |
T2345 |
11329-11338 |
NN |
denotes |
epidermis |
T2346 |
11338-11340 |
, |
denotes |
, |
T2347 |
11340-11349 |
VBG |
denotes |
including |
T2348 |
11350-11360 |
NN |
denotes |
acanthosis |
T2349 |
11361-11362 |
-LRB- |
denotes |
( |
T2350 |
11362-11372 |
VBG |
denotes |
thickening |
T2351 |
11373-11375 |
IN |
denotes |
of |
T2352 |
11376-11379 |
DT |
denotes |
the |
T2353 |
11380-11385 |
NN |
denotes |
layer |
T2354 |
11386-11388 |
IN |
denotes |
of |
T2355 |
11389-11392 |
DT |
denotes |
the |
T2357 |
11393-11402 |
JJ |
denotes |
nucleated |
T2356 |
11403-11408 |
NNS |
denotes |
cells |
T2358 |
11408-11409 |
-RRB- |
denotes |
) |
T2359 |
11409-11411 |
, |
denotes |
, |
T2360 |
11411-11425 |
NN |
denotes |
hyperkeratosis |
T2361 |
11426-11427 |
-LRB- |
denotes |
( |
T2363 |
11427-11436 |
JJ |
denotes |
prominent |
T2362 |
11437-11447 |
NN |
denotes |
thickening |
T2364 |
11448-11450 |
IN |
denotes |
of |
T2365 |
11451-11454 |
DT |
denotes |
the |
T2367 |
11455-11464 |
VBN |
denotes |
cornified |
T2366 |
11465-11470 |
NN |
denotes |
layer |
T2368 |
11470-11471 |
-RRB- |
denotes |
) |
T2369 |
11471-11473 |
, |
denotes |
, |
T2370 |
11473-11476 |
CC |
denotes |
and |
T2371 |
11477-11487 |
JJ |
denotes |
pronounced |
T2373 |
11488-11496 |
JJ |
denotes |
granular |
T2372 |
11497-11502 |
NN |
denotes |
layer |
T2374 |
11503-11506 |
CC |
denotes |
and |
T2375 |
11507-11516 |
JJ |
denotes |
sebacious |
T2376 |
11517-11522 |
NN |
denotes |
gland |
T2377 |
11523-11534 |
NN |
denotes |
hyperplasia |
T2378 |
11535-11536 |
-LRB- |
denotes |
( |
T2379 |
11536-11543 |
VBG |
denotes |
causing |
T2380 |
11544-11550 |
JJ |
denotes |
greasy |
T2381 |
11551-11561 |
NN |
denotes |
appearance |
T2382 |
11562-11564 |
IN |
denotes |
of |
T2383 |
11565-11568 |
DT |
denotes |
the |
T2384 |
11569-11573 |
NN |
denotes |
hair |
T2385 |
11573-11574 |
-RRB- |
denotes |
) |
T2386 |
11574-11576 |
, |
denotes |
, |
T2342 |
11576-11580 |
VBD |
denotes |
were |
T2387 |
11581-11587 |
JJ |
denotes |
absent |
T2388 |
11588-11590 |
IN |
denotes |
in |
T2389 |
11591-11594 |
DT |
denotes |
the |
T2390 |
11595-11599 |
NN |
denotes |
skin |
T2391 |
11600-11602 |
IN |
denotes |
of |
T2392 |
11603-11609 |
NN |
denotes |
XpdTTD |
T2394 |
11609-11610 |
HYPH |
denotes |
/ |
T2393 |
11610-11615 |
NN |
denotes |
†XPCS |
T2395 |
11616-11620 |
NNS |
denotes |
mice |
T2396 |
11620-11622 |
, |
denotes |
, |
T2397 |
11622-11624 |
IN |
denotes |
as |
T2398 |
11625-11636 |
VBN |
denotes |
established |
T2399 |
11637-11639 |
IN |
denotes |
by |
T2400 |
11640-11645 |
JJ |
denotes |
blind |
T2402 |
11646-11657 |
JJ |
denotes |
microscopic |
T2401 |
11658-11669 |
NN |
denotes |
examination |
T2403 |
11670-11672 |
IN |
denotes |
of |
T2404 |
11673-11677 |
NN |
denotes |
skin |
T2405 |
11678-11686 |
NNS |
denotes |
sections |
T2406 |
11687-11688 |
-LRB- |
denotes |
( |
T2408 |
11688-11694 |
NN |
denotes |
Figure |
T2407 |
11695-11697 |
NN |
denotes |
2B |
T2409 |
11697-11698 |
-RRB- |
denotes |
) |
T2410 |
11698-11699 |
. |
denotes |
. |
T2411 |
11699-11897 |
sentence |
denotes |
Furthermore, anaemia and developmental delay present in patients with TTD [24] and in XpdTTD/TTD mice [15] were both partially rescued in compound heterozygous XpdTTD/†XPCS mice (Figure 2D and 2E). |
T2412 |
11700-11711 |
RB |
denotes |
Furthermore |
T2414 |
11711-11713 |
, |
denotes |
, |
T2415 |
11713-11720 |
NN |
denotes |
anaemia |
T2416 |
11721-11724 |
CC |
denotes |
and |
T2417 |
11725-11738 |
JJ |
denotes |
developmental |
T2418 |
11739-11744 |
NN |
denotes |
delay |
T2419 |
11745-11752 |
JJ |
denotes |
present |
T2420 |
11753-11755 |
IN |
denotes |
in |
T2421 |
11756-11764 |
NNS |
denotes |
patients |
T2422 |
11765-11769 |
IN |
denotes |
with |
T2423 |
11770-11773 |
NN |
denotes |
TTD |
T2424 |
11774-11775 |
-LRB- |
denotes |
[ |
T2425 |
11775-11777 |
CD |
denotes |
24 |
T2426 |
11777-11778 |
-RRB- |
denotes |
] |
T2427 |
11779-11782 |
CC |
denotes |
and |
T2428 |
11783-11785 |
IN |
denotes |
in |
T2429 |
11786-11792 |
NN |
denotes |
XpdTTD |
T2431 |
11792-11793 |
HYPH |
denotes |
/ |
T2430 |
11793-11796 |
NN |
denotes |
TTD |
T2432 |
11797-11801 |
NNS |
denotes |
mice |
T2433 |
11802-11803 |
-LRB- |
denotes |
[ |
T2434 |
11803-11805 |
CD |
denotes |
15 |
T2435 |
11805-11806 |
-RRB- |
denotes |
] |
T2436 |
11807-11811 |
VBD |
denotes |
were |
T2437 |
11812-11816 |
RB |
denotes |
both |
T2438 |
11817-11826 |
RB |
denotes |
partially |
T2413 |
11827-11834 |
VBN |
denotes |
rescued |
T2439 |
11835-11837 |
IN |
denotes |
in |
T2440 |
11838-11846 |
JJ |
denotes |
compound |
T2442 |
11847-11859 |
JJ |
denotes |
heterozygous |
T2443 |
11860-11866 |
NN |
denotes |
XpdTTD |
T2445 |
11866-11867 |
HYPH |
denotes |
/ |
T2444 |
11867-11872 |
NN |
denotes |
†XPCS |
T2441 |
11873-11877 |
NNS |
denotes |
mice |
T2446 |
11878-11879 |
-LRB- |
denotes |
( |
T2448 |
11879-11885 |
NN |
denotes |
Figure |
T2447 |
11886-11888 |
NN |
denotes |
2D |
T2449 |
11889-11892 |
CC |
denotes |
and |
T2450 |
11893-11895 |
NN |
denotes |
2E |
T2451 |
11895-11896 |
-RRB- |
denotes |
) |
T2452 |
11896-11897 |
. |
denotes |
. |
T2575 |
11919-11927 |
NNS |
denotes |
Features |
T2576 |
11928-11930 |
IN |
denotes |
in |
T2577 |
11931-11934 |
NN |
denotes |
TTD |
T2578 |
11935-11939 |
NNS |
denotes |
Mice |
T2579 |
11940-11942 |
IN |
denotes |
by |
T2580 |
11943-11953 |
JJ |
denotes |
Homozygous |
T2582 |
11954-11960 |
JJ |
denotes |
Lethal |
T2583 |
11961-11964 |
NN |
denotes |
Xpd |
T2581 |
11965-11972 |
NNS |
denotes |
Alleles |
T2584 |
11972-12206 |
sentence |
denotes |
Because patients with TTD, XPCS, and CS (but not XP) and the corresponding mouse models share similar accelerated progeroid symptoms [12,13,15,23], we next addressed ageing-related parameters in compound heterozygous mice (Figure 3). |
T2585 |
11973-11980 |
IN |
denotes |
Because |
T2587 |
11981-11989 |
NNS |
denotes |
patients |
T2588 |
11990-11994 |
IN |
denotes |
with |
T2589 |
11995-11998 |
NN |
denotes |
TTD |
T2590 |
11998-12000 |
, |
denotes |
, |
T2591 |
12000-12004 |
NN |
denotes |
XPCS |
T2592 |
12004-12006 |
, |
denotes |
, |
T2593 |
12006-12009 |
CC |
denotes |
and |
T2594 |
12010-12012 |
NN |
denotes |
CS |
T2595 |
12013-12014 |
-LRB- |
denotes |
( |
T2596 |
12014-12017 |
CC |
denotes |
but |
T2597 |
12018-12021 |
RB |
denotes |
not |
T2598 |
12022-12024 |
NN |
denotes |
XP |
T2599 |
12024-12025 |
-RRB- |
denotes |
) |
T2600 |
12026-12029 |
CC |
denotes |
and |
T2601 |
12030-12033 |
DT |
denotes |
the |
T2603 |
12034-12047 |
VBG |
denotes |
corresponding |
T2604 |
12048-12053 |
NN |
denotes |
mouse |
T2602 |
12054-12060 |
NNS |
denotes |
models |
T2586 |
12061-12066 |
VBP |
denotes |
share |
T2606 |
12067-12074 |
JJ |
denotes |
similar |
T2608 |
12075-12086 |
VBN |
denotes |
accelerated |
T2609 |
12087-12096 |
NN |
denotes |
progeroid |
T2607 |
12097-12105 |
NNS |
denotes |
symptoms |
T2610 |
12106-12107 |
-LRB- |
denotes |
[ |
T2612 |
12107-12109 |
CD |
denotes |
12 |
T2613 |
12109-12110 |
, |
denotes |
, |
T2614 |
12110-12112 |
CD |
denotes |
13 |
T2615 |
12112-12113 |
, |
denotes |
, |
T2616 |
12113-12115 |
CD |
denotes |
15 |
T2617 |
12115-12116 |
, |
denotes |
, |
T2611 |
12116-12118 |
CD |
denotes |
23 |
T2618 |
12118-12119 |
-RRB- |
denotes |
] |
T2619 |
12119-12121 |
, |
denotes |
, |
T2620 |
12121-12123 |
PRP |
denotes |
we |
T2621 |
12124-12128 |
RB |
denotes |
next |
T2605 |
12129-12138 |
VBD |
denotes |
addressed |
T2622 |
12139-12145 |
JJ |
denotes |
ageing |
T2624 |
12145-12146 |
HYPH |
denotes |
- |
T2623 |
12146-12153 |
JJ |
denotes |
related |
T2625 |
12154-12164 |
NNS |
denotes |
parameters |
T2626 |
12165-12167 |
IN |
denotes |
in |
T2627 |
12168-12176 |
JJ |
denotes |
compound |
T2629 |
12177-12189 |
JJ |
denotes |
heterozygous |
T2628 |
12190-12194 |
NNS |
denotes |
mice |
T2630 |
12195-12196 |
-LRB- |
denotes |
( |
T2631 |
12196-12202 |
NN |
denotes |
Figure |
T2632 |
12203-12204 |
CD |
denotes |
3 |
T2633 |
12204-12205 |
-RRB- |
denotes |
) |
T2634 |
12205-12206 |
. |
denotes |
. |
T2635 |
12206-12469 |
sentence |
denotes |
Whereas XpdTTD/TTD animals show reduced bone mineral density as an indication of the early onset of osteoporosis before ~14 mo of age [15], tail vertebrae from compound heterozygous XpdTTD/†XPCS mice were comparable to wt even at 20 mo of age (Figure 3B and 3C). |
T2636 |
12207-12214 |
IN |
denotes |
Whereas |
T2638 |
12215-12221 |
NN |
denotes |
XpdTTD |
T2640 |
12221-12222 |
HYPH |
denotes |
/ |
T2639 |
12222-12225 |
NN |
denotes |
TTD |
T2641 |
12226-12233 |
NNS |
denotes |
animals |
T2637 |
12234-12238 |
VBP |
denotes |
show |
T2643 |
12239-12246 |
VBN |
denotes |
reduced |
T2645 |
12247-12251 |
NN |
denotes |
bone |
T2646 |
12252-12259 |
NN |
denotes |
mineral |
T2644 |
12260-12267 |
NN |
denotes |
density |
T2647 |
12268-12270 |
IN |
denotes |
as |
T2648 |
12271-12273 |
DT |
denotes |
an |
T2649 |
12274-12284 |
NN |
denotes |
indication |
T2650 |
12285-12287 |
IN |
denotes |
of |
T2651 |
12288-12291 |
DT |
denotes |
the |
T2653 |
12292-12297 |
JJ |
denotes |
early |
T2652 |
12298-12303 |
NN |
denotes |
onset |
T2654 |
12304-12306 |
IN |
denotes |
of |
T2655 |
12307-12319 |
NN |
denotes |
osteoporosis |
T2656 |
12320-12326 |
IN |
denotes |
before |
T2657 |
12327-12328 |
SYM |
denotes |
~ |
T2658 |
12328-12330 |
CD |
denotes |
14 |
T2659 |
12331-12333 |
NNS |
denotes |
mo |
T2660 |
12334-12336 |
IN |
denotes |
of |
T2661 |
12337-12340 |
NN |
denotes |
age |
T2662 |
12341-12342 |
-LRB- |
denotes |
[ |
T2663 |
12342-12344 |
CD |
denotes |
15 |
T2664 |
12344-12345 |
-RRB- |
denotes |
] |
T2665 |
12345-12347 |
, |
denotes |
, |
T2666 |
12347-12351 |
NN |
denotes |
tail |
T2667 |
12352-12361 |
NNS |
denotes |
vertebrae |
T2668 |
12362-12366 |
IN |
denotes |
from |
T2669 |
12367-12375 |
NN |
denotes |
compound |
T2671 |
12376-12388 |
JJ |
denotes |
heterozygous |
T2672 |
12389-12395 |
NN |
denotes |
XpdTTD |
T2674 |
12395-12396 |
HYPH |
denotes |
/ |
T2673 |
12396-12401 |
NN |
denotes |
†XPCS |
T2670 |
12402-12406 |
NNS |
denotes |
mice |
T2642 |
12407-12411 |
VBD |
denotes |
were |
T2675 |
12412-12422 |
JJ |
denotes |
comparable |
T2676 |
12423-12425 |
IN |
denotes |
to |
T2677 |
12426-12428 |
NN |
denotes |
wt |
T2678 |
12429-12433 |
RB |
denotes |
even |
T2679 |
12434-12436 |
IN |
denotes |
at |
T2680 |
12437-12439 |
CD |
denotes |
20 |
T2681 |
12440-12442 |
NNS |
denotes |
mo |
T2682 |
12443-12445 |
IN |
denotes |
of |
T2683 |
12446-12449 |
NN |
denotes |
age |
T2684 |
12450-12451 |
-LRB- |
denotes |
( |
T2686 |
12451-12457 |
NN |
denotes |
Figure |
T2685 |
12458-12460 |
NN |
denotes |
3B |
T2687 |
12461-12464 |
CC |
denotes |
and |
T2688 |
12465-12467 |
NN |
denotes |
3C |
T2689 |
12467-12468 |
-RRB- |
denotes |
) |
T2690 |
12468-12469 |
. |
denotes |
. |
T2691 |
12469-12641 |
sentence |
denotes |
Furthermore, whereas XpdTTD/TTD mice developed kyphosis earlier than wt animals (onset ~3 mo versus 12–20 mo), compound heterozygous XpdTTD/†XPCS mice did not (Figure 3B). |
T2692 |
12470-12481 |
RB |
denotes |
Furthermore |
T2694 |
12481-12483 |
, |
denotes |
, |
T2695 |
12483-12490 |
IN |
denotes |
whereas |
T2697 |
12491-12497 |
NN |
denotes |
XpdTTD |
T2699 |
12497-12498 |
HYPH |
denotes |
/ |
T2698 |
12498-12501 |
NN |
denotes |
TTD |
T2700 |
12502-12506 |
NNS |
denotes |
mice |
T2696 |
12507-12516 |
VBD |
denotes |
developed |
T2701 |
12517-12525 |
NN |
denotes |
kyphosis |
T2702 |
12526-12533 |
RBR |
denotes |
earlier |
T2703 |
12534-12538 |
IN |
denotes |
than |
T2704 |
12539-12541 |
NN |
denotes |
wt |
T2705 |
12542-12549 |
NNS |
denotes |
animals |
T2706 |
12550-12551 |
-LRB- |
denotes |
( |
T2707 |
12551-12556 |
NN |
denotes |
onset |
T2708 |
12557-12558 |
SYM |
denotes |
~ |
T2709 |
12558-12559 |
CD |
denotes |
3 |
T2710 |
12560-12562 |
NNS |
denotes |
mo |
T2711 |
12563-12569 |
CC |
denotes |
versus |
T2712 |
12570-12572 |
CD |
denotes |
12 |
T2714 |
12572-12573 |
SYM |
denotes |
– |
T2713 |
12573-12575 |
CD |
denotes |
20 |
T2715 |
12576-12578 |
NNS |
denotes |
mo |
T2716 |
12578-12579 |
-RRB- |
denotes |
) |
T2717 |
12579-12581 |
, |
denotes |
, |
T2718 |
12581-12589 |
JJ |
denotes |
compound |
T2720 |
12590-12602 |
JJ |
denotes |
heterozygous |
T2721 |
12603-12609 |
NN |
denotes |
XpdTTD |
T2723 |
12609-12610 |
HYPH |
denotes |
/ |
T2722 |
12610-12615 |
NN |
denotes |
†XPCS |
T2719 |
12616-12620 |
NNS |
denotes |
mice |
T2724 |
12621-12624 |
VBD |
denotes |
did |
T2725 |
12625-12628 |
RB |
denotes |
not |
T2726 |
12629-12630 |
-LRB- |
denotes |
( |
T2727 |
12630-12636 |
NN |
denotes |
Figure |
T2693 |
12637-12639 |
NN |
denotes |
3B |
T2728 |
12639-12640 |
-RRB- |
denotes |
) |
T2729 |
12640-12641 |
. |
denotes |
. |
T2730 |
12641-12853 |
sentence |
denotes |
Overall appearance and body weight curves revealed that TTD-associated age-related premature cachexia and lack of general fitness were fully rescued in compound heterozygous XpdTTD/†XPCS mice (Figure 3A and 3D). |
T2731 |
12642-12649 |
JJ |
denotes |
Overall |
T2732 |
12650-12660 |
NN |
denotes |
appearance |
T2734 |
12661-12664 |
CC |
denotes |
and |
T2735 |
12665-12669 |
NN |
denotes |
body |
T2736 |
12670-12676 |
NN |
denotes |
weight |
T2737 |
12677-12683 |
NNS |
denotes |
curves |
T2733 |
12684-12692 |
VBD |
denotes |
revealed |
T2738 |
12693-12697 |
IN |
denotes |
that |
T2740 |
12698-12701 |
NN |
denotes |
TTD |
T2742 |
12701-12702 |
HYPH |
denotes |
- |
T2741 |
12702-12712 |
JJ |
denotes |
associated |
T2744 |
12713-12716 |
NN |
denotes |
age |
T2746 |
12716-12717 |
HYPH |
denotes |
- |
T2745 |
12717-12724 |
JJ |
denotes |
related |
T2747 |
12725-12734 |
JJ |
denotes |
premature |
T2743 |
12735-12743 |
NN |
denotes |
cachexia |
T2748 |
12744-12747 |
CC |
denotes |
and |
T2749 |
12748-12752 |
NN |
denotes |
lack |
T2750 |
12753-12755 |
IN |
denotes |
of |
T2751 |
12756-12763 |
JJ |
denotes |
general |
T2752 |
12764-12771 |
NN |
denotes |
fitness |
T2753 |
12772-12776 |
VBD |
denotes |
were |
T2754 |
12777-12782 |
RB |
denotes |
fully |
T2739 |
12783-12790 |
VBN |
denotes |
rescued |
T2755 |
12791-12793 |
IN |
denotes |
in |
T2756 |
12794-12802 |
JJ |
denotes |
compound |
T2758 |
12803-12815 |
JJ |
denotes |
heterozygous |
T2759 |
12816-12822 |
NN |
denotes |
XpdTTD |
T2761 |
12822-12823 |
HYPH |
denotes |
/ |
T2760 |
12823-12828 |
NN |
denotes |
†XPCS |
T2757 |
12829-12833 |
NNS |
denotes |
mice |
T2762 |
12834-12835 |
-LRB- |
denotes |
( |
T2764 |
12835-12841 |
NN |
denotes |
Figure |
T2763 |
12842-12844 |
NN |
denotes |
3A |
T2765 |
12845-12848 |
CC |
denotes |
and |
T2766 |
12849-12851 |
NN |
denotes |
3D |
T2767 |
12851-12852 |
-RRB- |
denotes |
) |
T2768 |
12852-12853 |
. |
denotes |
. |
T2769 |
12853-12954 |
sentence |
denotes |
Finally, the life span of compound heterozygotes was extended relative to XpdTTD/TTD mice (Table 2). |
T2770 |
12854-12861 |
RB |
denotes |
Finally |
T2772 |
12861-12863 |
, |
denotes |
, |
T2773 |
12863-12866 |
DT |
denotes |
the |
T2775 |
12867-12871 |
NN |
denotes |
life |
T2774 |
12872-12876 |
NN |
denotes |
span |
T2776 |
12877-12879 |
IN |
denotes |
of |
T2777 |
12880-12888 |
JJ |
denotes |
compound |
T2778 |
12889-12902 |
NNS |
denotes |
heterozygotes |
T2779 |
12903-12906 |
VBD |
denotes |
was |
T2771 |
12907-12915 |
VBN |
denotes |
extended |
T2780 |
12916-12924 |
JJ |
denotes |
relative |
T2781 |
12925-12927 |
IN |
denotes |
to |
T2782 |
12928-12934 |
NN |
denotes |
XpdTTD |
T2784 |
12934-12935 |
HYPH |
denotes |
/ |
T2783 |
12935-12938 |
NN |
denotes |
TTD |
T2785 |
12939-12943 |
NNS |
denotes |
mice |
T2786 |
12944-12945 |
-LRB- |
denotes |
( |
T2787 |
12945-12950 |
NN |
denotes |
Table |
T2788 |
12951-12952 |
CD |
denotes |
2 |
T2789 |
12952-12953 |
-RRB- |
denotes |
) |
T2790 |
12953-12954 |
. |
denotes |
. |
T2791 |
12954-14564 |
sentence |
denotes |
Figure 3 Rescue of TTD-Associated Segmental Progeroid Features in Compound Heterozygous Xpd TTD/†XPCS Mice
(A) Photographs of 20-mo-old wt, compound heterozygous XpdTTD/†XPCS, and homozygous XpdTTD/TTD mice. Note the extreme cachexia (lack of subcutaneous fat) in the XpdTTD/TTD mouse and the absence of this phenotype in wt and XpdTTD/†XPCS mice.
(B) Radiographs of 20-mo-old male wt, XpdTTD/†XPCS, and XpdTTD/TTD mice. Ageing XpdTTD/TTD mice develop kyphosis (curvature of the spinal column) and reduction of bone mineral density as shown in the 6–8 segment of the tail vertebrae counted from the pelvis (see close-up at right). Note the absence of these features in the XpdTTD / † XPCS mouse.
(C) Quantification of relative bone mineral density of tail vertebrae from 20-mo-old male wt (n = 3), XpdTTD/†XPCS (n = 4), and XpdTTD/TTD (n = 3) mice. The p-values indicate the significance of the difference relative to XpdTTD/TTD. Error bars indicate SEM.
(D) Body weight curves as a function of time. Note that the age-dependent cachexia observed in XpdTTD/TTD mice was rescued in both male and female XpdTTD / †XPCS mice. Significant differences between wt and XpdTTD/TTD but not between wt and XpdTTD/†XPCS mice were observed at 9 and 18 mo of age as indicated by asterisks. Error bars indicate SEM.
Table 2 Pleiotropic Xpd Biallelic Effects in Mice and Cells To determine whether the homozygous lethal Xpd†XPCS allele was unique in its ability to ameliorate symptoms associated with the XpdTTD allele, we generated compound heterozygous XpdTTD/†XP mice by crossing the corresponding heterozygous animals. |
T8041 |
12965-12971 |
NN |
denotes |
Rescue |
T8042 |
12972-12974 |
IN |
denotes |
of |
T8043 |
12975-12978 |
NN |
denotes |
TTD |
T8045 |
12978-12979 |
HYPH |
denotes |
- |
T8044 |
12979-12989 |
JJ |
denotes |
Associated |
T8047 |
12990-12999 |
JJ |
denotes |
Segmental |
T8048 |
13000-13009 |
JJ |
denotes |
Progeroid |
T8046 |
13010-13018 |
NNS |
denotes |
Features |
T8049 |
13019-13021 |
IN |
denotes |
in |
T8050 |
13022-13030 |
JJ |
denotes |
Compound |
T8052 |
13031-13043 |
JJ |
denotes |
Heterozygous |
T8053 |
13044-13051 |
NN |
denotes |
Xpd TTD |
T8055 |
13051-13052 |
HYPH |
denotes |
/ |
T8054 |
13052-13057 |
NN |
denotes |
†XPCS |
T8051 |
13058-13062 |
NNS |
denotes |
Mice |
T8056 |
13062-13163 |
sentence |
denotes |
(A) Photographs of 20-mo-old wt, compound heterozygous XpdTTD/†XPCS, and homozygous XpdTTD/TTD mice. |
T8057 |
13063-13064 |
-LRB- |
denotes |
( |
T8058 |
13064-13065 |
LS |
denotes |
A |
T8060 |
13065-13066 |
-RRB- |
denotes |
) |
T8059 |
13067-13078 |
NNS |
denotes |
Photographs |
T8061 |
13079-13081 |
IN |
denotes |
of |
T8062 |
13082-13084 |
CD |
denotes |
20 |
T8064 |
13084-13085 |
HYPH |
denotes |
- |
T8063 |
13085-13087 |
NN |
denotes |
mo |
T8066 |
13087-13088 |
HYPH |
denotes |
- |
T8065 |
13088-13091 |
JJ |
denotes |
old |
T8068 |
13092-13094 |
NN |
denotes |
wt |
T8069 |
13094-13096 |
, |
denotes |
, |
T8070 |
13096-13104 |
JJ |
denotes |
compound |
T8072 |
13105-13117 |
JJ |
denotes |
heterozygous |
T8073 |
13118-13124 |
NN |
denotes |
XpdTTD |
T8074 |
13124-13125 |
HYPH |
denotes |
/ |
T8071 |
13125-13130 |
NN |
denotes |
†XPCS |
T8075 |
13130-13132 |
, |
denotes |
, |
T8076 |
13132-13135 |
CC |
denotes |
and |
T8077 |
13136-13146 |
JJ |
denotes |
homozygous |
T8079 |
13147-13153 |
NN |
denotes |
XpdTTD |
T8080 |
13153-13154 |
HYPH |
denotes |
/ |
T8078 |
13154-13157 |
NN |
denotes |
TTD |
T8067 |
13158-13162 |
NNS |
denotes |
mice |
T8081 |
13162-13163 |
. |
denotes |
. |
T8082 |
13163-13303 |
sentence |
denotes |
Note the extreme cachexia (lack of subcutaneous fat) in the XpdTTD/TTD mouse and the absence of this phenotype in wt and XpdTTD/†XPCS mice. |
T8083 |
13164-13168 |
VB |
denotes |
Note |
T8084 |
13169-13172 |
DT |
denotes |
the |
T8086 |
13173-13180 |
JJ |
denotes |
extreme |
T8085 |
13181-13189 |
NN |
denotes |
cachexia |
T8087 |
13190-13191 |
-LRB- |
denotes |
( |
T8088 |
13191-13195 |
NN |
denotes |
lack |
T8089 |
13196-13198 |
IN |
denotes |
of |
T8090 |
13199-13211 |
JJ |
denotes |
subcutaneous |
T8091 |
13212-13215 |
NN |
denotes |
fat |
T8092 |
13215-13216 |
-RRB- |
denotes |
) |
T8093 |
13217-13219 |
IN |
denotes |
in |
T8094 |
13220-13223 |
DT |
denotes |
the |
T8096 |
13224-13230 |
NN |
denotes |
XpdTTD |
T8098 |
13230-13231 |
HYPH |
denotes |
/ |
T8097 |
13231-13234 |
NN |
denotes |
TTD |
T8095 |
13235-13240 |
NN |
denotes |
mouse |
T8099 |
13241-13244 |
CC |
denotes |
and |
T8100 |
13245-13248 |
DT |
denotes |
the |
T8101 |
13249-13256 |
NN |
denotes |
absence |
T8102 |
13257-13259 |
IN |
denotes |
of |
T8103 |
13260-13264 |
DT |
denotes |
this |
T8104 |
13265-13274 |
NN |
denotes |
phenotype |
T8105 |
13275-13277 |
IN |
denotes |
in |
T8106 |
13278-13280 |
NN |
denotes |
wt |
T8108 |
13281-13284 |
CC |
denotes |
and |
T8109 |
13285-13291 |
NN |
denotes |
XpdTTD |
T8111 |
13291-13292 |
HYPH |
denotes |
/ |
T8110 |
13292-13297 |
NN |
denotes |
†XPCS |
T8107 |
13298-13302 |
NNS |
denotes |
mice |
T8112 |
13302-13303 |
. |
denotes |
. |
T8113 |
13303-13376 |
sentence |
denotes |
(B) Radiographs of 20-mo-old male wt, XpdTTD/†XPCS, and XpdTTD/TTD mice. |
T8114 |
13304-13305 |
-LRB- |
denotes |
( |
T8115 |
13305-13306 |
LS |
denotes |
B |
T8117 |
13306-13307 |
-RRB- |
denotes |
) |
T8116 |
13308-13319 |
NNS |
denotes |
Radiographs |
T8118 |
13320-13322 |
IN |
denotes |
of |
T8119 |
13323-13325 |
CD |
denotes |
20 |
T8121 |
13325-13326 |
HYPH |
denotes |
- |
T8120 |
13326-13328 |
NN |
denotes |
mo |
T8123 |
13328-13329 |
HYPH |
denotes |
- |
T8122 |
13329-13332 |
JJ |
denotes |
old |
T8125 |
13333-13337 |
JJ |
denotes |
male |
T8126 |
13338-13340 |
NN |
denotes |
wt |
T8127 |
13340-13342 |
, |
denotes |
, |
T8128 |
13342-13348 |
NN |
denotes |
XpdTTD |
T8130 |
13348-13349 |
HYPH |
denotes |
/ |
T8129 |
13349-13354 |
NN |
denotes |
†XPCS |
T8131 |
13354-13356 |
, |
denotes |
, |
T8132 |
13356-13359 |
CC |
denotes |
and |
T8133 |
13360-13366 |
NN |
denotes |
XpdTTD |
T8135 |
13366-13367 |
HYPH |
denotes |
/ |
T8134 |
13367-13370 |
NN |
denotes |
TTD |
T8124 |
13371-13375 |
NNS |
denotes |
mice |
T8136 |
13375-13376 |
. |
denotes |
. |
T8137 |
13376-13586 |
sentence |
denotes |
Ageing XpdTTD/TTD mice develop kyphosis (curvature of the spinal column) and reduction of bone mineral density as shown in the 6–8 segment of the tail vertebrae counted from the pelvis (see close-up at right). |
T8138 |
13377-13383 |
VBG |
denotes |
Ageing |
T8140 |
13384-13390 |
NN |
denotes |
XpdTTD |
T8142 |
13390-13391 |
HYPH |
denotes |
/ |
T8141 |
13391-13394 |
NN |
denotes |
TTD |
T8139 |
13395-13399 |
NNS |
denotes |
mice |
T8143 |
13400-13407 |
VBP |
denotes |
develop |
T8144 |
13408-13416 |
NN |
denotes |
kyphosis |
T8145 |
13417-13418 |
-LRB- |
denotes |
( |
T8146 |
13418-13427 |
NN |
denotes |
curvature |
T8147 |
13428-13430 |
IN |
denotes |
of |
T8148 |
13431-13434 |
DT |
denotes |
the |
T8150 |
13435-13441 |
JJ |
denotes |
spinal |
T8149 |
13442-13448 |
NN |
denotes |
column |
T8151 |
13448-13449 |
-RRB- |
denotes |
) |
T8152 |
13450-13453 |
CC |
denotes |
and |
T8153 |
13454-13463 |
NN |
denotes |
reduction |
T8154 |
13464-13466 |
IN |
denotes |
of |
T8155 |
13467-13471 |
NN |
denotes |
bone |
T8156 |
13472-13479 |
NN |
denotes |
mineral |
T8157 |
13480-13487 |
NN |
denotes |
density |
T8158 |
13488-13490 |
IN |
denotes |
as |
T8159 |
13491-13496 |
VBN |
denotes |
shown |
T8160 |
13497-13499 |
IN |
denotes |
in |
T8161 |
13500-13503 |
DT |
denotes |
the |
T8163 |
13504-13505 |
CD |
denotes |
6 |
T8165 |
13505-13506 |
SYM |
denotes |
– |
T8164 |
13506-13507 |
CD |
denotes |
8 |
T8162 |
13508-13515 |
NN |
denotes |
segment |
T8166 |
13516-13518 |
IN |
denotes |
of |
T8167 |
13519-13522 |
DT |
denotes |
the |
T8169 |
13523-13527 |
NN |
denotes |
tail |
T8168 |
13528-13537 |
NNS |
denotes |
vertebrae |
T8170 |
13538-13545 |
VBN |
denotes |
counted |
T8171 |
13546-13550 |
IN |
denotes |
from |
T8172 |
13551-13554 |
DT |
denotes |
the |
T8173 |
13555-13561 |
NN |
denotes |
pelvis |
T8174 |
13562-13563 |
-LRB- |
denotes |
( |
T8175 |
13563-13566 |
VB |
denotes |
see |
T8176 |
13567-13572 |
JJ |
denotes |
close |
T8177 |
13572-13573 |
HYPH |
denotes |
- |
T8178 |
13573-13575 |
RP |
denotes |
up |
T8179 |
13576-13578 |
IN |
denotes |
at |
T8180 |
13579-13584 |
NN |
denotes |
right |
T8181 |
13584-13585 |
-RRB- |
denotes |
) |
T8182 |
13585-13586 |
. |
denotes |
. |
T8183 |
13586-13651 |
sentence |
denotes |
Note the absence of these features in the XpdTTD / † XPCS mouse. |
T8184 |
13587-13591 |
VB |
denotes |
Note |
T8185 |
13592-13595 |
DT |
denotes |
the |
T8186 |
13596-13603 |
NN |
denotes |
absence |
T8187 |
13604-13606 |
IN |
denotes |
of |
T8188 |
13607-13612 |
DT |
denotes |
these |
T8189 |
13613-13621 |
NNS |
denotes |
features |
T8190 |
13622-13624 |
IN |
denotes |
in |
T8191 |
13625-13628 |
DT |
denotes |
the |
T8193 |
13629-13636 |
NN |
denotes |
XpdTTD |
T8195 |
13636-13637 |
HYPH |
denotes |
/ |
T8194 |
13637-13644 |
NN |
denotes |
† XPCS |
T8192 |
13645-13650 |
NN |
denotes |
mouse |
T8196 |
13650-13651 |
. |
denotes |
. |
T8197 |
13651-13804 |
sentence |
denotes |
(C) Quantification of relative bone mineral density of tail vertebrae from 20-mo-old male wt (n = 3), XpdTTD/†XPCS (n = 4), and XpdTTD/TTD (n = 3) mice. |
T8198 |
13652-13653 |
-LRB- |
denotes |
( |
T8199 |
13653-13654 |
LS |
denotes |
C |
T8201 |
13654-13655 |
-RRB- |
denotes |
) |
T8200 |
13656-13670 |
NN |
denotes |
Quantification |
T8202 |
13671-13673 |
IN |
denotes |
of |
T8203 |
13674-13682 |
JJ |
denotes |
relative |
T8205 |
13683-13687 |
NN |
denotes |
bone |
T8206 |
13688-13695 |
NN |
denotes |
mineral |
T8204 |
13696-13703 |
NN |
denotes |
density |
T8207 |
13704-13706 |
IN |
denotes |
of |
T8208 |
13707-13711 |
NN |
denotes |
tail |
T8209 |
13712-13721 |
NNS |
denotes |
vertebrae |
T8210 |
13722-13726 |
IN |
denotes |
from |
T8211 |
13727-13729 |
CD |
denotes |
20 |
T8213 |
13729-13730 |
HYPH |
denotes |
- |
T8212 |
13730-13732 |
NN |
denotes |
mo |
T8215 |
13732-13733 |
HYPH |
denotes |
- |
T8214 |
13733-13736 |
JJ |
denotes |
old |
T8217 |
13737-13741 |
JJ |
denotes |
male |
T8218 |
13742-13744 |
NN |
denotes |
wt |
T8219 |
13745-13746 |
-LRB- |
denotes |
( |
T8221 |
13746-13747 |
NN |
denotes |
n |
T8222 |
13748-13749 |
SYM |
denotes |
= |
T8220 |
13750-13751 |
CD |
denotes |
3 |
T8223 |
13751-13752 |
-RRB- |
denotes |
) |
T8224 |
13752-13754 |
, |
denotes |
, |
T8225 |
13754-13760 |
NN |
denotes |
XpdTTD |
T8227 |
13760-13761 |
HYPH |
denotes |
/ |
T8226 |
13761-13766 |
NN |
denotes |
†XPCS |
T8228 |
13767-13768 |
-LRB- |
denotes |
( |
T8230 |
13768-13769 |
NN |
denotes |
n |
T8231 |
13770-13771 |
SYM |
denotes |
= |
T8229 |
13772-13773 |
CD |
denotes |
4 |
T8232 |
13773-13774 |
-RRB- |
denotes |
) |
T8233 |
13774-13776 |
, |
denotes |
, |
T8234 |
13776-13779 |
CC |
denotes |
and |
T8235 |
13780-13786 |
NN |
denotes |
XpdTTD |
T8237 |
13786-13787 |
HYPH |
denotes |
/ |
T8236 |
13787-13790 |
NN |
denotes |
TTD |
T8238 |
13791-13792 |
-LRB- |
denotes |
( |
T8240 |
13792-13793 |
NN |
denotes |
n |
T8241 |
13794-13795 |
SYM |
denotes |
= |
T8239 |
13796-13797 |
CD |
denotes |
3 |
T8242 |
13797-13798 |
-RRB- |
denotes |
) |
T8216 |
13799-13803 |
NNS |
denotes |
mice |
T8243 |
13803-13804 |
. |
denotes |
. |
T8244 |
13804-13885 |
sentence |
denotes |
The p-values indicate the significance of the difference relative to XpdTTD/TTD. |
T8245 |
13805-13808 |
DT |
denotes |
The |
T8247 |
13809-13810 |
NN |
denotes |
p |
T8248 |
13810-13811 |
HYPH |
denotes |
- |
T8246 |
13811-13817 |
NNS |
denotes |
values |
T8249 |
13818-13826 |
VBP |
denotes |
indicate |
T8250 |
13827-13830 |
DT |
denotes |
the |
T8251 |
13831-13843 |
NN |
denotes |
significance |
T8252 |
13844-13846 |
IN |
denotes |
of |
T8253 |
13847-13850 |
DT |
denotes |
the |
T8254 |
13851-13861 |
NN |
denotes |
difference |
T8255 |
13862-13870 |
JJ |
denotes |
relative |
T8256 |
13871-13873 |
IN |
denotes |
to |
T8257 |
13874-13880 |
NN |
denotes |
XpdTTD |
T8259 |
13880-13881 |
HYPH |
denotes |
/ |
T8258 |
13881-13884 |
NN |
denotes |
TTD |
T8260 |
13884-13885 |
. |
denotes |
. |
T8261 |
13885-13910 |
sentence |
denotes |
Error bars indicate SEM. |
T8262 |
13886-13891 |
NN |
denotes |
Error |
T8263 |
13892-13896 |
NNS |
denotes |
bars |
T8264 |
13897-13905 |
VBP |
denotes |
indicate |
T8265 |
13906-13909 |
NN |
denotes |
SEM |
T8266 |
13909-13910 |
. |
denotes |
. |
T8267 |
13910-13956 |
sentence |
denotes |
(D) Body weight curves as a function of time. |
T8268 |
13911-13912 |
-LRB- |
denotes |
( |
T8269 |
13912-13913 |
LS |
denotes |
D |
T8271 |
13913-13914 |
-RRB- |
denotes |
) |
T8272 |
13915-13919 |
NN |
denotes |
Body |
T8273 |
13920-13926 |
NN |
denotes |
weight |
T8270 |
13927-13933 |
NNS |
denotes |
curves |
T8274 |
13934-13936 |
IN |
denotes |
as |
T8275 |
13937-13938 |
DT |
denotes |
a |
T8276 |
13939-13947 |
NN |
denotes |
function |
T8277 |
13948-13950 |
IN |
denotes |
of |
T8278 |
13951-13955 |
NN |
denotes |
time |
T8279 |
13955-13956 |
. |
denotes |
. |
T8280 |
13956-14078 |
sentence |
denotes |
Note that the age-dependent cachexia observed in XpdTTD/TTD mice was rescued in both male and female XpdTTD / †XPCS mice. |
T8281 |
13957-13961 |
VB |
denotes |
Note |
T8282 |
13962-13966 |
IN |
denotes |
that |
T8284 |
13967-13970 |
DT |
denotes |
the |
T8286 |
13971-13974 |
NN |
denotes |
age |
T8288 |
13974-13975 |
HYPH |
denotes |
- |
T8287 |
13975-13984 |
JJ |
denotes |
dependent |
T8285 |
13985-13993 |
NN |
denotes |
cachexia |
T8289 |
13994-14002 |
VBN |
denotes |
observed |
T8290 |
14003-14005 |
IN |
denotes |
in |
T8291 |
14006-14012 |
NN |
denotes |
XpdTTD |
T8293 |
14012-14013 |
HYPH |
denotes |
/ |
T8292 |
14013-14016 |
NN |
denotes |
TTD |
T8294 |
14017-14021 |
NNS |
denotes |
mice |
T8295 |
14022-14025 |
VBD |
denotes |
was |
T8283 |
14026-14033 |
VBN |
denotes |
rescued |
T8296 |
14034-14036 |
IN |
denotes |
in |
T8297 |
14037-14041 |
CC |
denotes |
both |
T8298 |
14042-14046 |
JJ |
denotes |
male |
T8300 |
14047-14050 |
CC |
denotes |
and |
T8301 |
14051-14057 |
JJ |
denotes |
female |
T8302 |
14058-14065 |
NN |
denotes |
XpdTTD |
T8304 |
14065-14066 |
HYPH |
denotes |
/ |
T8303 |
14066-14072 |
NN |
denotes |
†XPCS |
T8299 |
14073-14077 |
NNS |
denotes |
mice |
T8305 |
14077-14078 |
. |
denotes |
. |
T8306 |
14078-14232 |
sentence |
denotes |
Significant differences between wt and XpdTTD/TTD but not between wt and XpdTTD/†XPCS mice were observed at 9 and 18 mo of age as indicated by asterisks. |
T8307 |
14079-14090 |
JJ |
denotes |
Significant |
T8308 |
14091-14102 |
NNS |
denotes |
differences |
T8310 |
14103-14110 |
IN |
denotes |
between |
T8311 |
14111-14113 |
NN |
denotes |
wt |
T8312 |
14114-14117 |
CC |
denotes |
and |
T8313 |
14118-14124 |
NN |
denotes |
XpdTTD |
T8315 |
14124-14125 |
HYPH |
denotes |
/ |
T8314 |
14125-14128 |
NN |
denotes |
TTD |
T8316 |
14129-14132 |
CC |
denotes |
but |
T8317 |
14133-14136 |
RB |
denotes |
not |
T8318 |
14137-14144 |
IN |
denotes |
between |
T8319 |
14145-14147 |
NN |
denotes |
wt |
T8321 |
14148-14151 |
CC |
denotes |
and |
T8322 |
14152-14158 |
NN |
denotes |
XpdTTD |
T8324 |
14158-14159 |
HYPH |
denotes |
/ |
T8323 |
14159-14164 |
NN |
denotes |
†XPCS |
T8320 |
14165-14169 |
NNS |
denotes |
mice |
T8325 |
14170-14174 |
VBD |
denotes |
were |
T8309 |
14175-14183 |
VBN |
denotes |
observed |
T8326 |
14184-14186 |
IN |
denotes |
at |
T8327 |
14187-14188 |
CD |
denotes |
9 |
T8329 |
14189-14192 |
CC |
denotes |
and |
T8330 |
14193-14195 |
CD |
denotes |
18 |
T8328 |
14196-14198 |
NNS |
denotes |
mo |
T8331 |
14199-14201 |
IN |
denotes |
of |
T8332 |
14202-14205 |
NN |
denotes |
age |
T8333 |
14206-14208 |
IN |
denotes |
as |
T8334 |
14209-14218 |
VBN |
denotes |
indicated |
T8335 |
14219-14221 |
IN |
denotes |
by |
T8336 |
14222-14231 |
NNS |
denotes |
asterisks |
T8337 |
14231-14232 |
. |
denotes |
. |
T8338 |
14232-14257 |
sentence |
denotes |
Error bars indicate SEM. |
T8339 |
14233-14238 |
NN |
denotes |
Error |
T8340 |
14239-14243 |
NNS |
denotes |
bars |
T8341 |
14244-14252 |
VBP |
denotes |
indicate |
T8342 |
14253-14256 |
NN |
denotes |
SEM |
T8343 |
14256-14257 |
. |
denotes |
. |
T9241 |
14267-14278 |
JJ |
denotes |
Pleiotropic |
T9243 |
14279-14282 |
NN |
denotes |
Xpd |
T9244 |
14283-14292 |
JJ |
denotes |
Biallelic |
T9242 |
14293-14300 |
NNS |
denotes |
Effects |
T9245 |
14301-14303 |
IN |
denotes |
in |
T9246 |
14304-14308 |
NNS |
denotes |
Mice |
T9247 |
14309-14312 |
CC |
denotes |
and |
T9248 |
14313-14318 |
NNS |
denotes |
Cells |
T2792 |
14319-14321 |
TO |
denotes |
To |
T2793 |
14322-14331 |
VB |
denotes |
determine |
T2795 |
14332-14339 |
IN |
denotes |
whether |
T2797 |
14340-14343 |
DT |
denotes |
the |
T2799 |
14344-14354 |
JJ |
denotes |
homozygous |
T2800 |
14355-14361 |
JJ |
denotes |
lethal |
T2801 |
14362-14370 |
NN |
denotes |
Xpd†XPCS |
T2798 |
14371-14377 |
NN |
denotes |
allele |
T2796 |
14378-14381 |
VBD |
denotes |
was |
T2802 |
14382-14388 |
JJ |
denotes |
unique |
T2803 |
14389-14391 |
IN |
denotes |
in |
T2804 |
14392-14395 |
PRP$ |
denotes |
its |
T2805 |
14396-14403 |
NN |
denotes |
ability |
T2806 |
14404-14406 |
TO |
denotes |
to |
T2807 |
14407-14417 |
VB |
denotes |
ameliorate |
T2808 |
14418-14426 |
NNS |
denotes |
symptoms |
T2809 |
14427-14437 |
VBN |
denotes |
associated |
T2810 |
14438-14442 |
IN |
denotes |
with |
T2811 |
14443-14446 |
DT |
denotes |
the |
T2813 |
14447-14453 |
NN |
denotes |
XpdTTD |
T2812 |
14454-14460 |
NN |
denotes |
allele |
T2814 |
14460-14462 |
, |
denotes |
, |
T2815 |
14462-14464 |
PRP |
denotes |
we |
T2794 |
14465-14474 |
VBD |
denotes |
generated |
T2816 |
14475-14483 |
NN |
denotes |
compound |
T2818 |
14484-14496 |
JJ |
denotes |
heterozygous |
T2819 |
14497-14503 |
NN |
denotes |
XpdTTD |
T2821 |
14503-14504 |
HYPH |
denotes |
/ |
T2820 |
14504-14507 |
NN |
denotes |
†XP |
T2817 |
14508-14512 |
NNS |
denotes |
mice |
T2822 |
14513-14515 |
IN |
denotes |
by |
T2823 |
14516-14524 |
VBG |
denotes |
crossing |
T2824 |
14525-14528 |
DT |
denotes |
the |
T2826 |
14529-14542 |
VBG |
denotes |
corresponding |
T2827 |
14543-14555 |
JJ |
denotes |
heterozygous |
T2825 |
14556-14563 |
NNS |
denotes |
animals |
T2828 |
14563-14564 |
. |
denotes |
. |
T2829 |
14564-15010 |
sentence |
denotes |
Similar to the Xpd †XPCS allele, the homozygous lethal Xpd †XP allele rescued cutaneous symptoms including hair loss (except locally during the first round; unpublished data), reduced cysteine content (cysteine index 9.3 ± 0.9 standard deviation [87% of wt], p = 0.01 versus TTD), ageing-associated premature cachexia (males and females were 36.1 ± 6.4 g [93% of wt] and 39.2 ± 3.2 g [116% of wt], respectively), and reduced life span (Table 2). |
T2830 |
14565-14572 |
JJ |
denotes |
Similar |
T2832 |
14573-14575 |
IN |
denotes |
to |
T2833 |
14576-14579 |
DT |
denotes |
the |
T2835 |
14580-14589 |
NN |
denotes |
Xpd †XPCS |
T2834 |
14590-14596 |
NN |
denotes |
allele |
T2836 |
14596-14598 |
, |
denotes |
, |
T2837 |
14598-14601 |
DT |
denotes |
the |
T2839 |
14602-14612 |
JJ |
denotes |
homozygous |
T2840 |
14613-14619 |
JJ |
denotes |
lethal |
T2841 |
14620-14627 |
NN |
denotes |
Xpd †XP |
T2838 |
14628-14634 |
NN |
denotes |
allele |
T2831 |
14635-14642 |
VBD |
denotes |
rescued |
T2842 |
14643-14652 |
JJ |
denotes |
cutaneous |
T2843 |
14653-14661 |
NNS |
denotes |
symptoms |
T2844 |
14662-14671 |
VBG |
denotes |
including |
T2845 |
14672-14676 |
NN |
denotes |
hair |
T2846 |
14677-14681 |
NN |
denotes |
loss |
T2847 |
14682-14683 |
-LRB- |
denotes |
( |
T2849 |
14683-14689 |
IN |
denotes |
except |
T2850 |
14690-14697 |
RB |
denotes |
locally |
T2851 |
14698-14704 |
IN |
denotes |
during |
T2852 |
14705-14708 |
DT |
denotes |
the |
T2854 |
14709-14714 |
JJ |
denotes |
first |
T2853 |
14715-14720 |
NN |
denotes |
round |
T2855 |
14720-14721 |
: |
denotes |
; |
T2856 |
14722-14733 |
JJ |
denotes |
unpublished |
T2848 |
14734-14738 |
NNS |
denotes |
data |
T2857 |
14738-14739 |
-RRB- |
denotes |
) |
T2858 |
14739-14741 |
, |
denotes |
, |
T2859 |
14741-14748 |
VBN |
denotes |
reduced |
T2861 |
14749-14757 |
NN |
denotes |
cysteine |
T2860 |
14758-14765 |
NN |
denotes |
content |
T2862 |
14766-14767 |
-LRB- |
denotes |
( |
T2864 |
14767-14775 |
NN |
denotes |
cysteine |
T2863 |
14776-14781 |
NN |
denotes |
index |
T2865 |
14782-14785 |
CD |
denotes |
9.3 |
T2866 |
14786-14787 |
SYM |
denotes |
± |
T2867 |
14788-14791 |
CD |
denotes |
0.9 |
T2869 |
14792-14800 |
JJ |
denotes |
standard |
T2868 |
14801-14810 |
NN |
denotes |
deviation |
T2870 |
14811-14812 |
-LRB- |
denotes |
[ |
T2872 |
14812-14814 |
CD |
denotes |
87 |
T2871 |
14814-14815 |
NN |
denotes |
% |
T2873 |
14816-14818 |
IN |
denotes |
of |
T2874 |
14819-14821 |
NN |
denotes |
wt |
T2875 |
14821-14822 |
-RRB- |
denotes |
] |
T2876 |
14822-14824 |
, |
denotes |
, |
T2877 |
14824-14825 |
NN |
denotes |
p |
T2879 |
14826-14827 |
SYM |
denotes |
= |
T2880 |
14828-14832 |
CD |
denotes |
0.01 |
T2881 |
14833-14839 |
CC |
denotes |
versus |
T2878 |
14840-14843 |
NN |
denotes |
TTD |
T2882 |
14843-14844 |
-RRB- |
denotes |
) |
T2883 |
14844-14846 |
, |
denotes |
, |
T2884 |
14846-14852 |
NN |
denotes |
ageing |
T2886 |
14852-14853 |
HYPH |
denotes |
- |
T2885 |
14853-14863 |
VBN |
denotes |
associated |
T2888 |
14864-14873 |
JJ |
denotes |
premature |
T2887 |
14874-14882 |
NN |
denotes |
cachexia |
T2889 |
14883-14884 |
-LRB- |
denotes |
( |
T2891 |
14884-14889 |
NNS |
denotes |
males |
T2892 |
14890-14893 |
CC |
denotes |
and |
T2893 |
14894-14901 |
NNS |
denotes |
females |
T2890 |
14902-14906 |
VBD |
denotes |
were |
T2894 |
14907-14911 |
CD |
denotes |
36.1 |
T2896 |
14912-14913 |
SYM |
denotes |
± |
T2895 |
14914-14917 |
CD |
denotes |
6.4 |
T2897 |
14918-14919 |
NNS |
denotes |
g |
T2898 |
14920-14921 |
-LRB- |
denotes |
[ |
T2900 |
14921-14923 |
CD |
denotes |
93 |
T2899 |
14923-14924 |
NN |
denotes |
% |
T2901 |
14925-14927 |
IN |
denotes |
of |
T2902 |
14928-14930 |
NN |
denotes |
wt |
T2903 |
14930-14931 |
-RRB- |
denotes |
] |
T2904 |
14932-14935 |
CC |
denotes |
and |
T2905 |
14936-14940 |
CD |
denotes |
39.2 |
T2907 |
14941-14942 |
SYM |
denotes |
± |
T2906 |
14943-14946 |
CD |
denotes |
3.2 |
T2908 |
14947-14948 |
NNS |
denotes |
g |
T2909 |
14949-14950 |
-LRB- |
denotes |
[ |
T2911 |
14950-14953 |
CD |
denotes |
116 |
T2910 |
14953-14954 |
NN |
denotes |
% |
T2912 |
14955-14957 |
IN |
denotes |
of |
T2913 |
14958-14960 |
NN |
denotes |
wt |
T2914 |
14960-14961 |
-RRB- |
denotes |
] |
T2915 |
14961-14963 |
, |
denotes |
, |
T2916 |
14963-14975 |
RB |
denotes |
respectively |
T2917 |
14975-14976 |
-RRB- |
denotes |
) |
T2918 |
14976-14978 |
, |
denotes |
, |
T2919 |
14978-14981 |
CC |
denotes |
and |
T2920 |
14982-14989 |
VBN |
denotes |
reduced |
T2922 |
14990-14994 |
NN |
denotes |
life |
T2921 |
14995-14999 |
NN |
denotes |
span |
T2923 |
15000-15001 |
-LRB- |
denotes |
( |
T2924 |
15001-15006 |
NN |
denotes |
Table |
T2925 |
15007-15008 |
CD |
denotes |
2 |
T2926 |
15008-15009 |
-RRB- |
denotes |
) |
T2927 |
15009-15010 |
. |
denotes |
. |
T2928 |
15010-15219 |
sentence |
denotes |
Taken together, these data indicate that two independent alleles, which on their own are unable to support viability (Table 1), were nonetheless able to ameliorate TTD-associated phenotypes in vivo (Table 2). |
T2929 |
15011-15016 |
VBN |
denotes |
Taken |
T2931 |
15017-15025 |
RB |
denotes |
together |
T2932 |
15025-15027 |
, |
denotes |
, |
T2933 |
15027-15032 |
DT |
denotes |
these |
T2934 |
15033-15037 |
NNS |
denotes |
data |
T2930 |
15038-15046 |
VBP |
denotes |
indicate |
T2935 |
15047-15051 |
IN |
denotes |
that |
T2937 |
15052-15055 |
CD |
denotes |
two |
T2939 |
15056-15067 |
JJ |
denotes |
independent |
T2938 |
15068-15075 |
NNS |
denotes |
alleles |
T2940 |
15075-15077 |
, |
denotes |
, |
T2941 |
15077-15082 |
WDT |
denotes |
which |
T2943 |
15083-15085 |
IN |
denotes |
on |
T2944 |
15086-15091 |
PRP$ |
denotes |
their |
T2945 |
15092-15095 |
NN |
denotes |
own |
T2942 |
15096-15099 |
VBP |
denotes |
are |
T2946 |
15100-15106 |
JJ |
denotes |
unable |
T2947 |
15107-15109 |
TO |
denotes |
to |
T2948 |
15110-15117 |
VB |
denotes |
support |
T2949 |
15118-15127 |
NN |
denotes |
viability |
T2950 |
15128-15129 |
-LRB- |
denotes |
( |
T2951 |
15129-15134 |
NN |
denotes |
Table |
T2952 |
15135-15136 |
CD |
denotes |
1 |
T2953 |
15136-15137 |
-RRB- |
denotes |
) |
T2954 |
15137-15139 |
, |
denotes |
, |
T2936 |
15139-15143 |
VBD |
denotes |
were |
T2955 |
15144-15155 |
RB |
denotes |
nonetheless |
T2956 |
15156-15160 |
JJ |
denotes |
able |
T2957 |
15161-15163 |
TO |
denotes |
to |
T2958 |
15164-15174 |
VB |
denotes |
ameliorate |
T2959 |
15175-15178 |
NN |
denotes |
TTD |
T2961 |
15178-15179 |
HYPH |
denotes |
- |
T2960 |
15179-15189 |
VBN |
denotes |
associated |
T2962 |
15190-15200 |
NNS |
denotes |
phenotypes |
T2963 |
15201-15203 |
FW |
denotes |
in |
T2964 |
15204-15208 |
FW |
denotes |
vivo |
T2965 |
15209-15210 |
-LRB- |
denotes |
( |
T2966 |
15210-15215 |
NN |
denotes |
Table |
T2967 |
15216-15217 |
CD |
denotes |
2 |
T2968 |
15217-15218 |
-RRB- |
denotes |
) |
T2969 |
15218-15219 |
. |
denotes |
. |
T3312 |
15221-15230 |
JJ |
denotes |
Molecular |
T3313 |
15231-15241 |
NNS |
denotes |
Mechanisms |
T3314 |
15242-15244 |
IN |
denotes |
of |
T3315 |
15245-15254 |
JJ |
denotes |
Biallelic |
T3316 |
15255-15262 |
NNS |
denotes |
Effects |
T3317 |
15262-15561 |
sentence |
denotes |
We next turned to UV-based cellular assays including unscheduled DNA synthesis after UV irradiation (UV-UDS), recovery of RNA synthesis after UV irradiation (UV-RRS), and UV survival, which report on the NER subpathways (global genome NER and transcription-coupled NER) and total NER, respectively. |
T3318 |
15263-15265 |
PRP |
denotes |
We |
T3320 |
15266-15270 |
RB |
denotes |
next |
T3319 |
15271-15277 |
VBD |
denotes |
turned |
T3321 |
15278-15280 |
IN |
denotes |
to |
T3322 |
15281-15283 |
NN |
denotes |
UV |
T3324 |
15283-15284 |
HYPH |
denotes |
- |
T3323 |
15284-15289 |
VBN |
denotes |
based |
T3326 |
15290-15298 |
JJ |
denotes |
cellular |
T3325 |
15299-15305 |
NNS |
denotes |
assays |
T3327 |
15306-15315 |
VBG |
denotes |
including |
T3328 |
15316-15327 |
JJ |
denotes |
unscheduled |
T3330 |
15328-15331 |
NN |
denotes |
DNA |
T3329 |
15332-15341 |
NN |
denotes |
synthesis |
T3331 |
15342-15347 |
IN |
denotes |
after |
T3332 |
15348-15350 |
NN |
denotes |
UV |
T3333 |
15351-15362 |
NN |
denotes |
irradiation |
T3334 |
15363-15364 |
-LRB- |
denotes |
( |
T3336 |
15364-15366 |
NN |
denotes |
UV |
T3337 |
15366-15367 |
HYPH |
denotes |
- |
T3335 |
15367-15370 |
NN |
denotes |
UDS |
T3338 |
15370-15371 |
-RRB- |
denotes |
) |
T3339 |
15371-15373 |
, |
denotes |
, |
T3340 |
15373-15381 |
NN |
denotes |
recovery |
T3341 |
15382-15384 |
IN |
denotes |
of |
T3342 |
15385-15388 |
NN |
denotes |
RNA |
T3343 |
15389-15398 |
NN |
denotes |
synthesis |
T3344 |
15399-15404 |
IN |
denotes |
after |
T3345 |
15405-15407 |
NN |
denotes |
UV |
T3346 |
15408-15419 |
NN |
denotes |
irradiation |
T3347 |
15420-15421 |
-LRB- |
denotes |
( |
T3349 |
15421-15423 |
NN |
denotes |
UV |
T3350 |
15423-15424 |
HYPH |
denotes |
- |
T3348 |
15424-15427 |
NN |
denotes |
RRS |
T3351 |
15427-15428 |
-RRB- |
denotes |
) |
T3352 |
15428-15430 |
, |
denotes |
, |
T3353 |
15430-15433 |
CC |
denotes |
and |
T3354 |
15434-15436 |
NN |
denotes |
UV |
T3355 |
15437-15445 |
NN |
denotes |
survival |
T3356 |
15445-15447 |
, |
denotes |
, |
T3357 |
15447-15452 |
WDT |
denotes |
which |
T3358 |
15453-15459 |
VBP |
denotes |
report |
T3359 |
15460-15462 |
IN |
denotes |
on |
T3360 |
15463-15466 |
DT |
denotes |
the |
T3362 |
15467-15470 |
NN |
denotes |
NER |
T3361 |
15471-15482 |
NNS |
denotes |
subpathways |
T3363 |
15483-15484 |
-LRB- |
denotes |
( |
T3365 |
15484-15490 |
JJ |
denotes |
global |
T3366 |
15491-15497 |
NN |
denotes |
genome |
T3364 |
15498-15501 |
NN |
denotes |
NER |
T3367 |
15502-15505 |
CC |
denotes |
and |
T3368 |
15506-15519 |
NN |
denotes |
transcription |
T3370 |
15519-15520 |
HYPH |
denotes |
- |
T3369 |
15520-15527 |
VBN |
denotes |
coupled |
T3371 |
15528-15531 |
NN |
denotes |
NER |
T3372 |
15531-15532 |
-RRB- |
denotes |
) |
T3373 |
15533-15536 |
CC |
denotes |
and |
T3374 |
15537-15542 |
JJ |
denotes |
total |
T3375 |
15543-15546 |
NN |
denotes |
NER |
T3376 |
15546-15548 |
, |
denotes |
, |
T3377 |
15548-15560 |
RB |
denotes |
respectively |
T3378 |
15560-15561 |
. |
denotes |
. |
T3379 |
15561-15687 |
sentence |
denotes |
In none of these assays was the response to UV improved in compound heterozygotes relative to TTD homozygotes (Figure 4A–4C). |
T3380 |
15562-15564 |
IN |
denotes |
In |
T3382 |
15565-15569 |
NN |
denotes |
none |
T3383 |
15570-15572 |
IN |
denotes |
of |
T3384 |
15573-15578 |
DT |
denotes |
these |
T3385 |
15579-15585 |
NNS |
denotes |
assays |
T3386 |
15586-15589 |
VBD |
denotes |
was |
T3387 |
15590-15593 |
DT |
denotes |
the |
T3388 |
15594-15602 |
NN |
denotes |
response |
T3389 |
15603-15605 |
IN |
denotes |
to |
T3390 |
15606-15608 |
NN |
denotes |
UV |
T3381 |
15609-15617 |
VBN |
denotes |
improved |
T3391 |
15618-15620 |
IN |
denotes |
in |
T3392 |
15621-15629 |
NN |
denotes |
compound |
T3393 |
15630-15643 |
NNS |
denotes |
heterozygotes |
T3394 |
15644-15652 |
JJ |
denotes |
relative |
T3395 |
15653-15655 |
IN |
denotes |
to |
T3396 |
15656-15659 |
NN |
denotes |
TTD |
T3397 |
15660-15671 |
NNS |
denotes |
homozygotes |
T3398 |
15672-15673 |
-LRB- |
denotes |
( |
T3400 |
15673-15679 |
NN |
denotes |
Figure |
T3399 |
15680-15682 |
NN |
denotes |
4A |
T3401 |
15682-15683 |
SYM |
denotes |
– |
T3402 |
15683-15685 |
NN |
denotes |
4C |
T3403 |
15685-15686 |
-RRB- |
denotes |
) |
T3404 |
15686-15687 |
. |
denotes |
. |
T3405 |
15687-16033 |
sentence |
denotes |
However, unlike the in vivo TTD phenotypes described above, in which XpdTTD/TTD and XpdTTD/KO animals were indistinguishable, XpdTTD dosage effects were observed in UV survival, UV-UDS, and UV-RRS, indicating that cellular parameters as measured in fibroblasts here do not always correlate with the phenotype at the level of the intact organism. |
T3406 |
15688-15695 |
RB |
denotes |
However |
T3408 |
15695-15697 |
, |
denotes |
, |
T3409 |
15697-15703 |
IN |
denotes |
unlike |
T3410 |
15704-15707 |
DT |
denotes |
the |
T3412 |
15708-15710 |
FW |
denotes |
in |
T3413 |
15711-15715 |
FW |
denotes |
vivo |
T3414 |
15716-15719 |
NN |
denotes |
TTD |
T3411 |
15720-15730 |
NNS |
denotes |
phenotypes |
T3415 |
15731-15740 |
VBN |
denotes |
described |
T3416 |
15741-15746 |
RB |
denotes |
above |
T3417 |
15746-15748 |
, |
denotes |
, |
T3418 |
15748-15750 |
IN |
denotes |
in |
T3420 |
15751-15756 |
WDT |
denotes |
which |
T3421 |
15757-15763 |
NN |
denotes |
XpdTTD |
T3423 |
15763-15764 |
HYPH |
denotes |
/ |
T3422 |
15764-15767 |
NN |
denotes |
TTD |
T3425 |
15768-15771 |
CC |
denotes |
and |
T3426 |
15772-15778 |
NN |
denotes |
XpdTTD |
T3428 |
15778-15779 |
HYPH |
denotes |
/ |
T3427 |
15779-15781 |
NN |
denotes |
KO |
T3424 |
15782-15789 |
NNS |
denotes |
animals |
T3419 |
15790-15794 |
VBD |
denotes |
were |
T3429 |
15795-15812 |
JJ |
denotes |
indistinguishable |
T3430 |
15812-15814 |
, |
denotes |
, |
T3431 |
15814-15820 |
NN |
denotes |
XpdTTD |
T3433 |
15821-15827 |
NN |
denotes |
dosage |
T3432 |
15828-15835 |
NNS |
denotes |
effects |
T3434 |
15836-15840 |
VBD |
denotes |
were |
T3407 |
15841-15849 |
VBN |
denotes |
observed |
T3435 |
15850-15852 |
IN |
denotes |
in |
T3436 |
15853-15855 |
NN |
denotes |
UV |
T3437 |
15856-15864 |
NN |
denotes |
survival |
T3438 |
15864-15866 |
, |
denotes |
, |
T3439 |
15866-15868 |
NN |
denotes |
UV |
T3441 |
15868-15869 |
HYPH |
denotes |
- |
T3440 |
15869-15872 |
NN |
denotes |
UDS |
T3442 |
15872-15874 |
, |
denotes |
, |
T3443 |
15874-15877 |
CC |
denotes |
and |
T3444 |
15878-15880 |
NN |
denotes |
UV |
T3446 |
15880-15881 |
HYPH |
denotes |
- |
T3445 |
15881-15884 |
NN |
denotes |
RRS |
T3447 |
15884-15886 |
, |
denotes |
, |
T3448 |
15886-15896 |
VBG |
denotes |
indicating |
T3449 |
15897-15901 |
IN |
denotes |
that |
T3451 |
15902-15910 |
JJ |
denotes |
cellular |
T3452 |
15911-15921 |
NNS |
denotes |
parameters |
T3453 |
15922-15924 |
IN |
denotes |
as |
T3454 |
15925-15933 |
VBN |
denotes |
measured |
T3455 |
15934-15936 |
IN |
denotes |
in |
T3456 |
15937-15948 |
NNS |
denotes |
fibroblasts |
T3457 |
15949-15953 |
RB |
denotes |
here |
T3458 |
15954-15956 |
VBP |
denotes |
do |
T3459 |
15957-15960 |
RB |
denotes |
not |
T3460 |
15961-15967 |
RB |
denotes |
always |
T3450 |
15968-15977 |
VB |
denotes |
correlate |
T3461 |
15978-15982 |
IN |
denotes |
with |
T3462 |
15983-15986 |
DT |
denotes |
the |
T3463 |
15987-15996 |
NN |
denotes |
phenotype |
T3464 |
15997-15999 |
IN |
denotes |
at |
T3465 |
16000-16003 |
DT |
denotes |
the |
T3466 |
16004-16009 |
NN |
denotes |
level |
T3467 |
16010-16012 |
IN |
denotes |
of |
T3468 |
16013-16016 |
DT |
denotes |
the |
T3470 |
16017-16023 |
JJ |
denotes |
intact |
T3469 |
16024-16032 |
NN |
denotes |
organism |
T3471 |
16032-16033 |
. |
denotes |
. |
T3472 |
16033-16156 |
sentence |
denotes |
XpdTTD/KO hemizygous cells were thus used as the baseline on which to compare the activity of compound heterozygous cells. |
T3473 |
16034-16040 |
NN |
denotes |
XpdTTD |
T3475 |
16040-16041 |
HYPH |
denotes |
/ |
T3474 |
16041-16043 |
NN |
denotes |
KO |
T3477 |
16044-16054 |
JJ |
denotes |
hemizygous |
T3476 |
16055-16060 |
NNS |
denotes |
cells |
T3479 |
16061-16065 |
VBD |
denotes |
were |
T3480 |
16066-16070 |
RB |
denotes |
thus |
T3478 |
16071-16075 |
VBN |
denotes |
used |
T3481 |
16076-16078 |
IN |
denotes |
as |
T3482 |
16079-16082 |
DT |
denotes |
the |
T3483 |
16083-16091 |
NN |
denotes |
baseline |
T3484 |
16092-16094 |
IN |
denotes |
on |
T3486 |
16095-16100 |
WDT |
denotes |
which |
T3487 |
16101-16103 |
TO |
denotes |
to |
T3485 |
16104-16111 |
VB |
denotes |
compare |
T3488 |
16112-16115 |
DT |
denotes |
the |
T3489 |
16116-16124 |
NN |
denotes |
activity |
T3490 |
16125-16127 |
IN |
denotes |
of |
T3491 |
16128-16136 |
NN |
denotes |
compound |
T3493 |
16137-16149 |
JJ |
denotes |
heterozygous |
T3492 |
16150-16155 |
NNS |
denotes |
cells |
T3494 |
16155-16156 |
. |
denotes |
. |
T3495 |
16156-16363 |
sentence |
denotes |
Relative to XpdTTD/KO hemizygote cells, UV survival was improved by the homozygous lethal Xpd†XPCS allele in XpdTTD/†XPCS compound heterozygous cells and to a lesser degree by the Xpd†XP allele (Figure 4A). |
T3496 |
16157-16165 |
JJ |
denotes |
Relative |
T3498 |
16166-16168 |
IN |
denotes |
to |
T3499 |
16169-16175 |
NN |
denotes |
XpdTTD |
T3501 |
16175-16176 |
HYPH |
denotes |
/ |
T3500 |
16176-16178 |
NN |
denotes |
KO |
T3503 |
16179-16189 |
NN |
denotes |
hemizygote |
T3502 |
16190-16195 |
NNS |
denotes |
cells |
T3504 |
16195-16197 |
, |
denotes |
, |
T3505 |
16197-16199 |
NN |
denotes |
UV |
T3506 |
16200-16208 |
NN |
denotes |
survival |
T3507 |
16209-16212 |
VBD |
denotes |
was |
T3497 |
16213-16221 |
VBN |
denotes |
improved |
T3508 |
16222-16224 |
IN |
denotes |
by |
T3509 |
16225-16228 |
DT |
denotes |
the |
T3511 |
16229-16239 |
JJ |
denotes |
homozygous |
T3512 |
16240-16246 |
JJ |
denotes |
lethal |
T3513 |
16247-16255 |
NN |
denotes |
Xpd†XPCS |
T3510 |
16256-16262 |
NN |
denotes |
allele |
T3514 |
16263-16265 |
IN |
denotes |
in |
T3515 |
16266-16272 |
NN |
denotes |
XpdTTD |
T3517 |
16272-16273 |
HYPH |
denotes |
/ |
T3516 |
16273-16278 |
NN |
denotes |
†XPCS |
T3519 |
16279-16287 |
NN |
denotes |
compound |
T3520 |
16288-16300 |
JJ |
denotes |
heterozygous |
T3518 |
16301-16306 |
NNS |
denotes |
cells |
T3521 |
16307-16310 |
CC |
denotes |
and |
T3522 |
16311-16313 |
IN |
denotes |
to |
T3524 |
16314-16315 |
DT |
denotes |
a |
T3526 |
16316-16322 |
JJR |
denotes |
lesser |
T3525 |
16323-16329 |
NN |
denotes |
degree |
T3523 |
16330-16332 |
IN |
denotes |
by |
T3527 |
16333-16336 |
DT |
denotes |
the |
T3529 |
16337-16343 |
NN |
denotes |
Xpd†XP |
T3528 |
16344-16350 |
NN |
denotes |
allele |
T3530 |
16351-16352 |
-LRB- |
denotes |
( |
T3532 |
16352-16358 |
NN |
denotes |
Figure |
T3531 |
16359-16361 |
NN |
denotes |
4A |
T3533 |
16361-16362 |
-RRB- |
denotes |
) |
T3534 |
16362-16363 |
. |
denotes |
. |
T3535 |
16363-16503 |
sentence |
denotes |
Because of embryonic and cellular lethality, we were unable to test UV survival associated exclusively with the Xpd†XPCS or Xpd†XP alleles. |
T3536 |
16364-16371 |
IN |
denotes |
Because |
T3538 |
16372-16374 |
IN |
denotes |
of |
T3539 |
16375-16384 |
JJ |
denotes |
embryonic |
T3541 |
16385-16388 |
CC |
denotes |
and |
T3542 |
16389-16397 |
JJ |
denotes |
cellular |
T3540 |
16398-16407 |
NN |
denotes |
lethality |
T3543 |
16407-16409 |
, |
denotes |
, |
T3544 |
16409-16411 |
PRP |
denotes |
we |
T3537 |
16412-16416 |
VBD |
denotes |
were |
T3545 |
16417-16423 |
JJ |
denotes |
unable |
T3546 |
16424-16426 |
TO |
denotes |
to |
T3547 |
16427-16431 |
VB |
denotes |
test |
T3548 |
16432-16434 |
NN |
denotes |
UV |
T3549 |
16435-16443 |
NN |
denotes |
survival |
T3550 |
16444-16454 |
VBN |
denotes |
associated |
T3551 |
16455-16466 |
RB |
denotes |
exclusively |
T3552 |
16467-16471 |
IN |
denotes |
with |
T3553 |
16472-16475 |
DT |
denotes |
the |
T3555 |
16476-16484 |
NN |
denotes |
Xpd†XPCS |
T3556 |
16485-16487 |
CC |
denotes |
or |
T3557 |
16488-16494 |
NN |
denotes |
Xpd†XP |
T3554 |
16495-16502 |
NNS |
denotes |
alleles |
T3558 |
16502-16503 |
. |
denotes |
. |
T3559 |
16503-16745 |
sentence |
denotes |
However, homozygous XPDXP (XPDR683W) and hemizygous XPDXPCS (XPDG602D) human cells are known to be highly sensitive to UV [19,25], as are cells from a homozygous viable XpdXPCS/XPCS (XPDG602D/G602D) mouse model (Figure 4A, dotted line) [23]. |
T3560 |
16504-16511 |
RB |
denotes |
However |
T3562 |
16511-16513 |
, |
denotes |
, |
T3563 |
16513-16523 |
JJ |
denotes |
homozygous |
T3564 |
16524-16529 |
NN |
denotes |
XPDXP |
T3566 |
16530-16531 |
-LRB- |
denotes |
( |
T3567 |
16531-16539 |
NN |
denotes |
XPDR683W |
T3568 |
16539-16540 |
-RRB- |
denotes |
) |
T3569 |
16541-16544 |
CC |
denotes |
and |
T3570 |
16545-16555 |
JJ |
denotes |
hemizygous |
T3571 |
16556-16563 |
NN |
denotes |
XPDXPCS |
T3572 |
16564-16565 |
-LRB- |
denotes |
( |
T3573 |
16565-16573 |
NN |
denotes |
XPDG602D |
T3574 |
16573-16574 |
-RRB- |
denotes |
) |
T3575 |
16575-16580 |
JJ |
denotes |
human |
T3565 |
16581-16586 |
NNS |
denotes |
cells |
T3576 |
16587-16590 |
VBP |
denotes |
are |
T3561 |
16591-16596 |
VBN |
denotes |
known |
T3577 |
16597-16599 |
TO |
denotes |
to |
T3578 |
16600-16602 |
VB |
denotes |
be |
T3579 |
16603-16609 |
RB |
denotes |
highly |
T3580 |
16610-16619 |
JJ |
denotes |
sensitive |
T3581 |
16620-16622 |
IN |
denotes |
to |
T3582 |
16623-16625 |
NN |
denotes |
UV |
T3583 |
16626-16627 |
-LRB- |
denotes |
[ |
T3585 |
16627-16629 |
CD |
denotes |
19 |
T3586 |
16629-16630 |
, |
denotes |
, |
T3584 |
16630-16632 |
CD |
denotes |
25 |
T3587 |
16632-16633 |
-RRB- |
denotes |
] |
T3588 |
16633-16635 |
, |
denotes |
, |
T3589 |
16635-16637 |
IN |
denotes |
as |
T3590 |
16638-16641 |
VBP |
denotes |
are |
T3591 |
16642-16647 |
NNS |
denotes |
cells |
T3592 |
16648-16652 |
IN |
denotes |
from |
T3593 |
16653-16654 |
DT |
denotes |
a |
T3595 |
16655-16665 |
JJ |
denotes |
homozygous |
T3596 |
16666-16672 |
JJ |
denotes |
viable |
T3597 |
16673-16680 |
NN |
denotes |
XpdXPCS |
T3599 |
16680-16681 |
HYPH |
denotes |
/ |
T3598 |
16681-16685 |
NN |
denotes |
XPCS |
T3600 |
16686-16687 |
-LRB- |
denotes |
( |
T3602 |
16687-16695 |
NN |
denotes |
XPDG602D |
T3603 |
16695-16696 |
HYPH |
denotes |
/ |
T3601 |
16696-16701 |
NN |
denotes |
G602D |
T3604 |
16701-16702 |
-RRB- |
denotes |
) |
T3605 |
16703-16708 |
NN |
denotes |
mouse |
T3594 |
16709-16714 |
NN |
denotes |
model |
T3606 |
16715-16716 |
-LRB- |
denotes |
( |
T3608 |
16716-16722 |
NN |
denotes |
Figure |
T3607 |
16723-16725 |
NN |
denotes |
4A |
T3609 |
16725-16727 |
, |
denotes |
, |
T3610 |
16727-16733 |
VBN |
denotes |
dotted |
T3611 |
16734-16738 |
NN |
denotes |
line |
T3612 |
16738-16739 |
-RRB- |
denotes |
) |
T3613 |
16740-16741 |
-LRB- |
denotes |
[ |
T3614 |
16741-16743 |
CD |
denotes |
23 |
T3615 |
16743-16744 |
-RRB- |
denotes |
] |
T3616 |
16744-16745 |
. |
denotes |
. |
T3617 |
16745-16906 |
sentence |
denotes |
Thus, the survival of XpdTTD/†XPCS (and XpdTTD/†XP) cells likely represents a level of UV resistance that neither mutant allele can impart on its own (Table 2). |
T3618 |
16746-16750 |
RB |
denotes |
Thus |
T3620 |
16750-16752 |
, |
denotes |
, |
T3621 |
16752-16755 |
DT |
denotes |
the |
T3622 |
16756-16764 |
NN |
denotes |
survival |
T3623 |
16765-16767 |
IN |
denotes |
of |
T3624 |
16768-16774 |
NN |
denotes |
XpdTTD |
T3626 |
16774-16775 |
HYPH |
denotes |
/ |
T3625 |
16775-16780 |
NN |
denotes |
†XPCS |
T3628 |
16781-16782 |
-LRB- |
denotes |
( |
T3629 |
16782-16785 |
CC |
denotes |
and |
T3630 |
16786-16792 |
NN |
denotes |
XpdTTD |
T3632 |
16792-16793 |
HYPH |
denotes |
/ |
T3631 |
16793-16796 |
NN |
denotes |
†XP |
T3633 |
16796-16797 |
-RRB- |
denotes |
) |
T3627 |
16798-16803 |
NNS |
denotes |
cells |
T3634 |
16804-16810 |
RB |
denotes |
likely |
T3619 |
16811-16821 |
VBZ |
denotes |
represents |
T3635 |
16822-16823 |
DT |
denotes |
a |
T3636 |
16824-16829 |
NN |
denotes |
level |
T3637 |
16830-16832 |
IN |
denotes |
of |
T3638 |
16833-16835 |
NN |
denotes |
UV |
T3639 |
16836-16846 |
NN |
denotes |
resistance |
T3640 |
16847-16851 |
WDT |
denotes |
that |
T3642 |
16852-16859 |
CC |
denotes |
neither |
T3644 |
16860-16866 |
JJ |
denotes |
mutant |
T3643 |
16867-16873 |
NN |
denotes |
allele |
T3645 |
16874-16877 |
MD |
denotes |
can |
T3641 |
16878-16884 |
VB |
denotes |
impart |
T3646 |
16885-16887 |
IN |
denotes |
on |
T3647 |
16888-16891 |
PRP$ |
denotes |
its |
T3648 |
16892-16895 |
NN |
denotes |
own |
T3649 |
16896-16897 |
-LRB- |
denotes |
( |
T3650 |
16897-16902 |
NN |
denotes |
Table |
T3651 |
16903-16904 |
CD |
denotes |
2 |
T3652 |
16904-16905 |
-RRB- |
denotes |
) |
T3653 |
16905-16906 |
. |
denotes |
. |
T3654 |
16906-17064 |
sentence |
denotes |
Significant effects of compound heterozygosity on NER subpathways relative to XpdTTD/KO cells were observed in XpdTTD/†XP cells but only for UV-UDS activity. |
T3655 |
16907-16918 |
JJ |
denotes |
Significant |
T3656 |
16919-16926 |
NNS |
denotes |
effects |
T3658 |
16927-16929 |
IN |
denotes |
of |
T3659 |
16930-16938 |
NN |
denotes |
compound |
T3660 |
16939-16953 |
NN |
denotes |
heterozygosity |
T3661 |
16954-16956 |
IN |
denotes |
on |
T3662 |
16957-16960 |
NN |
denotes |
NER |
T3663 |
16961-16972 |
NNS |
denotes |
subpathways |
T3664 |
16973-16981 |
JJ |
denotes |
relative |
T3665 |
16982-16984 |
IN |
denotes |
to |
T3666 |
16985-16991 |
NN |
denotes |
XpdTTD |
T3668 |
16991-16992 |
HYPH |
denotes |
/ |
T3667 |
16992-16994 |
NN |
denotes |
KO |
T3669 |
16995-17000 |
NNS |
denotes |
cells |
T3670 |
17001-17005 |
VBD |
denotes |
were |
T3657 |
17006-17014 |
VBN |
denotes |
observed |
T3671 |
17015-17017 |
IN |
denotes |
in |
T3672 |
17018-17024 |
NN |
denotes |
XpdTTD |
T3674 |
17024-17025 |
HYPH |
denotes |
/ |
T3673 |
17025-17028 |
NN |
denotes |
†XP |
T3675 |
17029-17034 |
NNS |
denotes |
cells |
T3676 |
17035-17038 |
CC |
denotes |
but |
T3677 |
17039-17043 |
RB |
denotes |
only |
T3678 |
17044-17047 |
IN |
denotes |
for |
T3679 |
17048-17050 |
NN |
denotes |
UV |
T3681 |
17050-17051 |
HYPH |
denotes |
- |
T3680 |
17051-17054 |
NN |
denotes |
UDS |
T3682 |
17055-17063 |
NN |
denotes |
activity |
T3683 |
17063-17064 |
. |
denotes |
. |
T3684 |
17064-17313 |
sentence |
denotes |
Finally, none of the mutant TFIIH combinations (carrying alterations associated with TTD [XPDR722W], XPCS [XPDG602D], or XP [XPDR683W]) exhibited synergism in an in vitro NER reaction reconstituted with different mutant TFIIH complexes (Figure 4D). |
T3685 |
17065-17072 |
RB |
denotes |
Finally |
T3687 |
17072-17074 |
, |
denotes |
, |
T3688 |
17074-17078 |
NN |
denotes |
none |
T3689 |
17079-17081 |
IN |
denotes |
of |
T3690 |
17082-17085 |
DT |
denotes |
the |
T3692 |
17086-17092 |
JJ |
denotes |
mutant |
T3693 |
17093-17098 |
NN |
denotes |
TFIIH |
T3691 |
17099-17111 |
NNS |
denotes |
combinations |
T3694 |
17112-17113 |
-LRB- |
denotes |
( |
T3695 |
17113-17121 |
VBG |
denotes |
carrying |
T3696 |
17122-17133 |
NNS |
denotes |
alterations |
T3697 |
17134-17144 |
VBN |
denotes |
associated |
T3698 |
17145-17149 |
IN |
denotes |
with |
T3699 |
17150-17153 |
NN |
denotes |
TTD |
T3700 |
17154-17155 |
-LRB- |
denotes |
[ |
T3701 |
17155-17163 |
NN |
denotes |
XPDR722W |
T3702 |
17163-17164 |
-RRB- |
denotes |
] |
T3703 |
17164-17166 |
, |
denotes |
, |
T3704 |
17166-17170 |
NN |
denotes |
XPCS |
T3705 |
17171-17172 |
-LRB- |
denotes |
[ |
T3706 |
17172-17180 |
NN |
denotes |
XPDG602D |
T3707 |
17180-17181 |
-RRB- |
denotes |
] |
T3708 |
17181-17183 |
, |
denotes |
, |
T3709 |
17183-17185 |
CC |
denotes |
or |
T3710 |
17186-17188 |
NN |
denotes |
XP |
T3711 |
17189-17190 |
-LRB- |
denotes |
[ |
T3712 |
17190-17198 |
NN |
denotes |
XPDR683W |
T3713 |
17198-17199 |
-RRB- |
denotes |
] |
T3714 |
17199-17200 |
-RRB- |
denotes |
) |
T3686 |
17201-17210 |
VBD |
denotes |
exhibited |
T3715 |
17211-17220 |
NN |
denotes |
synergism |
T3716 |
17221-17223 |
IN |
denotes |
in |
T3717 |
17224-17226 |
DT |
denotes |
an |
T3719 |
17227-17229 |
FW |
denotes |
in |
T3720 |
17230-17235 |
FW |
denotes |
vitro |
T3721 |
17236-17239 |
NN |
denotes |
NER |
T3718 |
17240-17248 |
NN |
denotes |
reaction |
T3722 |
17249-17262 |
VBN |
denotes |
reconstituted |
T3723 |
17263-17267 |
IN |
denotes |
with |
T3724 |
17268-17277 |
JJ |
denotes |
different |
T3726 |
17278-17284 |
JJ |
denotes |
mutant |
T3727 |
17285-17290 |
NN |
denotes |
TFIIH |
T3725 |
17291-17300 |
NNS |
denotes |
complexes |
T3728 |
17301-17302 |
-LRB- |
denotes |
( |
T3730 |
17302-17308 |
NN |
denotes |
Figure |
T3729 |
17309-17311 |
NN |
denotes |
4D |
T3731 |
17311-17312 |
-RRB- |
denotes |
) |
T3732 |
17312-17313 |
. |
denotes |
. |
T3733 |
17313-17548 |
sentence |
denotes |
Taken together, these data are consistent with interallelic complementation of UV sensitivity in cells but underscore the lack of any correlation between UV-related repair characteristics and TTD progeroid phenotypes in animal models. |
T3734 |
17314-17319 |
VBN |
denotes |
Taken |
T3736 |
17320-17328 |
RB |
denotes |
together |
T3737 |
17328-17330 |
, |
denotes |
, |
T3738 |
17330-17335 |
DT |
denotes |
these |
T3739 |
17336-17340 |
NNS |
denotes |
data |
T3735 |
17341-17344 |
VBP |
denotes |
are |
T3740 |
17345-17355 |
JJ |
denotes |
consistent |
T3741 |
17356-17360 |
IN |
denotes |
with |
T3742 |
17361-17373 |
JJ |
denotes |
interallelic |
T3743 |
17374-17389 |
NN |
denotes |
complementation |
T3744 |
17390-17392 |
IN |
denotes |
of |
T3745 |
17393-17395 |
NN |
denotes |
UV |
T3746 |
17396-17407 |
NN |
denotes |
sensitivity |
T3747 |
17408-17410 |
IN |
denotes |
in |
T3748 |
17411-17416 |
NNS |
denotes |
cells |
T3749 |
17417-17420 |
CC |
denotes |
but |
T3750 |
17421-17431 |
VBP |
denotes |
underscore |
T3751 |
17432-17435 |
DT |
denotes |
the |
T3752 |
17436-17440 |
NN |
denotes |
lack |
T3753 |
17441-17443 |
IN |
denotes |
of |
T3754 |
17444-17447 |
DT |
denotes |
any |
T3755 |
17448-17459 |
NN |
denotes |
correlation |
T3756 |
17460-17467 |
IN |
denotes |
between |
T3757 |
17468-17470 |
NN |
denotes |
UV |
T3759 |
17470-17471 |
HYPH |
denotes |
- |
T3758 |
17471-17478 |
VBN |
denotes |
related |
T3761 |
17479-17485 |
NN |
denotes |
repair |
T3760 |
17486-17501 |
NNS |
denotes |
characteristics |
T3762 |
17502-17505 |
CC |
denotes |
and |
T3763 |
17506-17509 |
NN |
denotes |
TTD |
T3765 |
17510-17519 |
NN |
denotes |
progeroid |
T3764 |
17520-17530 |
NNS |
denotes |
phenotypes |
T3766 |
17531-17533 |
IN |
denotes |
in |
T3767 |
17534-17540 |
NN |
denotes |
animal |
T3768 |
17541-17547 |
NNS |
denotes |
models |
T3769 |
17547-17548 |
. |
denotes |
. |
T3770 |
17548-17549 |
sentence |
denotes |
|
T8564 |
17559-17564 |
NN |
denotes |
TFIIH |
T8565 |
17565-17574 |
NNS |
denotes |
Functions |
T8566 |
17575-17578 |
CC |
denotes |
and |
T8567 |
17579-17589 |
NNS |
denotes |
Mechanisms |
T8568 |
17590-17592 |
IN |
denotes |
of |
T8569 |
17593-17596 |
NN |
denotes |
XPD |
T8571 |
17596-17597 |
HYPH |
denotes |
- |
T8570 |
17597-17607 |
VBN |
denotes |
Associated |
T8573 |
17608-17615 |
NN |
denotes |
Disease |
T8572 |
17616-17626 |
NN |
denotes |
Pleiotropy |
T8574 |
17626-17670 |
sentence |
denotes |
(A) Cellular survival after UV irradiation. |
T8575 |
17627-17628 |
-LRB- |
denotes |
( |
T8576 |
17628-17629 |
LS |
denotes |
A |
T8578 |
17629-17630 |
-RRB- |
denotes |
) |
T8579 |
17631-17639 |
JJ |
denotes |
Cellular |
T8577 |
17640-17648 |
NN |
denotes |
survival |
T8580 |
17649-17654 |
IN |
denotes |
after |
T8581 |
17655-17657 |
NN |
denotes |
UV |
T8582 |
17658-17669 |
NN |
denotes |
irradiation |
T8583 |
17669-17670 |
. |
denotes |
. |
T8584 |
17670-17796 |
sentence |
denotes |
Rescue of hemizygous XpdTTD/KO survival by Xpd†XPCS and Xpd†XP alleles is illustrated by arrows marked A and B, respectively. |
T8585 |
17671-17677 |
NN |
denotes |
Rescue |
T8587 |
17678-17680 |
IN |
denotes |
of |
T8588 |
17681-17691 |
JJ |
denotes |
hemizygous |
T8590 |
17692-17698 |
NN |
denotes |
XpdTTD |
T8592 |
17698-17699 |
HYPH |
denotes |
/ |
T8591 |
17699-17701 |
NN |
denotes |
KO |
T8589 |
17702-17710 |
NN |
denotes |
survival |
T8593 |
17711-17713 |
IN |
denotes |
by |
T8594 |
17714-17722 |
NN |
denotes |
Xpd†XPCS |
T8596 |
17723-17726 |
CC |
denotes |
and |
T8597 |
17727-17733 |
NN |
denotes |
Xpd†XP |
T8595 |
17734-17741 |
NNS |
denotes |
alleles |
T8598 |
17742-17744 |
VBZ |
denotes |
is |
T8586 |
17745-17756 |
VBN |
denotes |
illustrated |
T8599 |
17757-17759 |
IN |
denotes |
by |
T8600 |
17760-17766 |
NNS |
denotes |
arrows |
T8601 |
17767-17773 |
VBN |
denotes |
marked |
T8602 |
17774-17775 |
NN |
denotes |
A |
T8603 |
17776-17779 |
CC |
denotes |
and |
T8604 |
17780-17781 |
NN |
denotes |
B |
T8605 |
17781-17783 |
, |
denotes |
, |
T8606 |
17783-17795 |
RB |
denotes |
respectively |
T8607 |
17795-17796 |
. |
denotes |
. |
T8608 |
17796-17934 |
sentence |
denotes |
UV survival of homozygous XpdXPCS/XPCS cells (asterisk) from the normally expressed viable allele (XpdXPCS) is depicted by a dotted line. |
T8609 |
17797-17799 |
NN |
denotes |
UV |
T8610 |
17800-17808 |
NN |
denotes |
survival |
T8612 |
17809-17811 |
IN |
denotes |
of |
T8613 |
17812-17822 |
JJ |
denotes |
homozygous |
T8615 |
17823-17830 |
NN |
denotes |
XpdXPCS |
T8617 |
17830-17831 |
HYPH |
denotes |
/ |
T8616 |
17831-17835 |
NN |
denotes |
XPCS |
T8614 |
17836-17841 |
NNS |
denotes |
cells |
T8618 |
17842-17843 |
-LRB- |
denotes |
( |
T8619 |
17843-17851 |
NN |
denotes |
asterisk |
T8620 |
17851-17852 |
-RRB- |
denotes |
) |
T8621 |
17853-17857 |
IN |
denotes |
from |
T8622 |
17858-17861 |
DT |
denotes |
the |
T8624 |
17862-17870 |
RB |
denotes |
normally |
T8625 |
17871-17880 |
VBN |
denotes |
expressed |
T8626 |
17881-17887 |
JJ |
denotes |
viable |
T8623 |
17888-17894 |
NN |
denotes |
allele |
T8627 |
17895-17896 |
-LRB- |
denotes |
( |
T8628 |
17896-17903 |
NN |
denotes |
XpdXPCS |
T8629 |
17903-17904 |
-RRB- |
denotes |
) |
T8630 |
17905-17907 |
VBZ |
denotes |
is |
T8611 |
17908-17916 |
VBN |
denotes |
depicted |
T8631 |
17917-17919 |
IN |
denotes |
by |
T8632 |
17920-17921 |
DT |
denotes |
a |
T8634 |
17922-17928 |
VBN |
denotes |
dotted |
T8633 |
17929-17933 |
NN |
denotes |
line |
T8635 |
17933-17934 |
. |
denotes |
. |
T8636 |
17934-18066 |
sentence |
denotes |
Survival curves represent an average of four independent experiments; 1–2 cell lines per genotype were included in each experiment. |
T8637 |
17935-17943 |
NN |
denotes |
Survival |
T8638 |
17944-17950 |
NNS |
denotes |
curves |
T8639 |
17951-17960 |
VBP |
denotes |
represent |
T8641 |
17961-17963 |
DT |
denotes |
an |
T8642 |
17964-17971 |
NN |
denotes |
average |
T8643 |
17972-17974 |
IN |
denotes |
of |
T8644 |
17975-17979 |
CD |
denotes |
four |
T8646 |
17980-17991 |
JJ |
denotes |
independent |
T8645 |
17992-18003 |
NNS |
denotes |
experiments |
T8647 |
18003-18004 |
: |
denotes |
; |
T8648 |
18005-18006 |
CD |
denotes |
1 |
T8650 |
18006-18007 |
SYM |
denotes |
– |
T8649 |
18007-18008 |
CD |
denotes |
2 |
T8652 |
18009-18013 |
NN |
denotes |
cell |
T8651 |
18014-18019 |
NNS |
denotes |
lines |
T8653 |
18020-18023 |
IN |
denotes |
per |
T8654 |
18024-18032 |
NN |
denotes |
genotype |
T8655 |
18033-18037 |
VBD |
denotes |
were |
T8640 |
18038-18046 |
VBN |
denotes |
included |
T8656 |
18047-18049 |
IN |
denotes |
in |
T8657 |
18050-18054 |
DT |
denotes |
each |
T8658 |
18055-18065 |
NN |
denotes |
experiment |
T8659 |
18065-18066 |
. |
denotes |
. |
T8660 |
18066-18111 |
sentence |
denotes |
Error bars indicate SEM between experiments. |
T8661 |
18067-18072 |
NN |
denotes |
Error |
T8662 |
18073-18077 |
NNS |
denotes |
bars |
T8663 |
18078-18086 |
VBP |
denotes |
indicate |
T8664 |
18087-18090 |
NN |
denotes |
SEM |
T8665 |
18091-18098 |
IN |
denotes |
between |
T8666 |
18099-18110 |
NNS |
denotes |
experiments |
T8667 |
18110-18111 |
. |
denotes |
. |
T8668 |
18111-18158 |
sentence |
denotes |
(B) UV-UDS, a measure of global genome repair. |
T8669 |
18112-18113 |
-LRB- |
denotes |
( |
T8670 |
18113-18114 |
LS |
denotes |
B |
T8672 |
18114-18115 |
-RRB- |
denotes |
) |
T8673 |
18116-18118 |
NN |
denotes |
UV |
T8674 |
18118-18119 |
HYPH |
denotes |
- |
T8671 |
18119-18122 |
NN |
denotes |
UDS |
T8675 |
18122-18124 |
, |
denotes |
, |
T8676 |
18124-18125 |
DT |
denotes |
a |
T8677 |
18126-18133 |
NN |
denotes |
measure |
T8678 |
18134-18136 |
IN |
denotes |
of |
T8679 |
18137-18143 |
JJ |
denotes |
global |
T8681 |
18144-18150 |
NN |
denotes |
genome |
T8680 |
18151-18157 |
NN |
denotes |
repair |
T8682 |
18157-18158 |
. |
denotes |
. |
T8683 |
18158-18327 |
sentence |
denotes |
Number of experiments: n = 15 (XpdTTD/TTD), n = 6 (XpdTTD/KO), n = 4 (XpdTTD/†XPCS ), n = 2 (XpdTTD/†XP ); 1–2 cell lines per genotype were included in each experiment. |
T8684 |
18159-18165 |
NN |
denotes |
Number |
T8686 |
18166-18168 |
IN |
denotes |
of |
T8687 |
18169-18180 |
NNS |
denotes |
experiments |
T8688 |
18180-18182 |
: |
denotes |
: |
T8689 |
18182-18183 |
NN |
denotes |
n |
T8691 |
18184-18185 |
SYM |
denotes |
= |
T8690 |
18186-18188 |
CD |
denotes |
15 |
T8692 |
18189-18190 |
-LRB- |
denotes |
( |
T8693 |
18190-18196 |
NN |
denotes |
XpdTTD |
T8694 |
18196-18197 |
SYM |
denotes |
/ |
T8695 |
18197-18200 |
NN |
denotes |
TTD |
T8696 |
18200-18201 |
-RRB- |
denotes |
) |
T8697 |
18201-18203 |
, |
denotes |
, |
T8698 |
18203-18204 |
NN |
denotes |
n |
T8700 |
18205-18206 |
SYM |
denotes |
= |
T8699 |
18207-18208 |
CD |
denotes |
6 |
T8701 |
18209-18210 |
-LRB- |
denotes |
( |
T8703 |
18210-18216 |
NN |
denotes |
XpdTTD |
T8704 |
18216-18217 |
HYPH |
denotes |
/ |
T8702 |
18217-18219 |
NN |
denotes |
KO |
T8705 |
18219-18220 |
-RRB- |
denotes |
) |
T8706 |
18220-18222 |
, |
denotes |
, |
T8707 |
18222-18223 |
NN |
denotes |
n |
T8709 |
18224-18225 |
SYM |
denotes |
= |
T8708 |
18226-18227 |
CD |
denotes |
4 |
T8710 |
18228-18229 |
-LRB- |
denotes |
( |
T8712 |
18229-18235 |
NN |
denotes |
XpdTTD |
T8713 |
18235-18236 |
HYPH |
denotes |
/ |
T8711 |
18236-18241 |
NN |
denotes |
†XPCS |
T8714 |
18242-18243 |
-RRB- |
denotes |
) |
T8715 |
18243-18245 |
, |
denotes |
, |
T8716 |
18245-18246 |
NN |
denotes |
n |
T8718 |
18247-18248 |
SYM |
denotes |
= |
T8717 |
18249-18250 |
CD |
denotes |
2 |
T8719 |
18251-18252 |
-LRB- |
denotes |
( |
T8721 |
18252-18258 |
NN |
denotes |
XpdTTD |
T8722 |
18258-18259 |
HYPH |
denotes |
/ |
T8720 |
18259-18262 |
NN |
denotes |
†XP |
T8723 |
18263-18264 |
-RRB- |
denotes |
) |
T8724 |
18264-18265 |
: |
denotes |
; |
T8725 |
18266-18267 |
CD |
denotes |
1 |
T8727 |
18267-18268 |
SYM |
denotes |
– |
T8726 |
18268-18269 |
CD |
denotes |
2 |
T8729 |
18270-18274 |
NN |
denotes |
cell |
T8728 |
18275-18280 |
NNS |
denotes |
lines |
T8730 |
18281-18284 |
IN |
denotes |
per |
T8731 |
18285-18293 |
NN |
denotes |
genotype |
T8732 |
18294-18298 |
VBD |
denotes |
were |
T8685 |
18299-18307 |
VBN |
denotes |
included |
T8733 |
18308-18310 |
IN |
denotes |
in |
T8734 |
18311-18315 |
DT |
denotes |
each |
T8735 |
18316-18326 |
NN |
denotes |
experiment |
T8736 |
18326-18327 |
. |
denotes |
. |
T8737 |
18327-18447 |
sentence |
denotes |
The asterisk indicates significant difference with XpdTTD/TTD; crosses indicate significant differences with XpdTTD/KO. |
T8738 |
18328-18331 |
DT |
denotes |
The |
T8739 |
18332-18340 |
NN |
denotes |
asterisk |
T8740 |
18341-18350 |
VBZ |
denotes |
indicates |
T8742 |
18351-18362 |
JJ |
denotes |
significant |
T8743 |
18363-18373 |
NN |
denotes |
difference |
T8744 |
18374-18378 |
IN |
denotes |
with |
T8745 |
18379-18385 |
NN |
denotes |
XpdTTD |
T8747 |
18385-18386 |
HYPH |
denotes |
/ |
T8746 |
18386-18389 |
NN |
denotes |
TTD |
T8748 |
18389-18390 |
: |
denotes |
; |
T8749 |
18391-18398 |
NNS |
denotes |
crosses |
T8741 |
18399-18407 |
VBP |
denotes |
indicate |
T8750 |
18408-18419 |
JJ |
denotes |
significant |
T8751 |
18420-18431 |
NNS |
denotes |
differences |
T8752 |
18432-18436 |
IN |
denotes |
with |
T8753 |
18437-18443 |
NN |
denotes |
XpdTTD |
T8755 |
18443-18444 |
HYPH |
denotes |
/ |
T8754 |
18444-18446 |
NN |
denotes |
KO |
T8756 |
18446-18447 |
. |
denotes |
. |
T8757 |
18447-18524 |
sentence |
denotes |
(C) UV-RRS, a measure of transcription-coupled repair of UV-induced lesions. |
T8758 |
18448-18449 |
-LRB- |
denotes |
( |
T8759 |
18449-18450 |
LS |
denotes |
C |
T8761 |
18450-18451 |
-RRB- |
denotes |
) |
T8762 |
18452-18454 |
NN |
denotes |
UV |
T8763 |
18454-18455 |
HYPH |
denotes |
- |
T8760 |
18455-18458 |
NN |
denotes |
RRS |
T8764 |
18458-18460 |
, |
denotes |
, |
T8765 |
18460-18461 |
DT |
denotes |
a |
T8766 |
18462-18469 |
NN |
denotes |
measure |
T8767 |
18470-18472 |
IN |
denotes |
of |
T8768 |
18473-18486 |
NN |
denotes |
transcription |
T8770 |
18486-18487 |
HYPH |
denotes |
- |
T8769 |
18487-18494 |
VBN |
denotes |
coupled |
T8771 |
18495-18501 |
NN |
denotes |
repair |
T8772 |
18502-18504 |
IN |
denotes |
of |
T8773 |
18505-18507 |
NN |
denotes |
UV |
T8775 |
18507-18508 |
HYPH |
denotes |
- |
T8774 |
18508-18515 |
VBN |
denotes |
induced |
T8776 |
18516-18523 |
NNS |
denotes |
lesions |
T8777 |
18523-18524 |
. |
denotes |
. |
T8778 |
18524-18692 |
sentence |
denotes |
Number of experiments: n = 7 (XpdTTD/TTD), n = 2 (XpdTTD/KO), n = 4 (XpdTTD/†XPCS ), n = 2 (XpdTTD/†XP ); 1–2 cell lines per genotype were included in each experiment. |
T8779 |
18525-18531 |
NN |
denotes |
Number |
T8781 |
18532-18534 |
IN |
denotes |
of |
T8782 |
18535-18546 |
NNS |
denotes |
experiments |
T8783 |
18546-18548 |
: |
denotes |
: |
T8784 |
18548-18549 |
NN |
denotes |
n |
T8786 |
18550-18551 |
SYM |
denotes |
= |
T8785 |
18552-18553 |
CD |
denotes |
7 |
T8787 |
18554-18555 |
-LRB- |
denotes |
( |
T8789 |
18555-18561 |
NN |
denotes |
XpdTTD |
T8790 |
18561-18562 |
HYPH |
denotes |
/ |
T8788 |
18562-18565 |
NN |
denotes |
TTD |
T8791 |
18565-18566 |
-RRB- |
denotes |
) |
T8792 |
18566-18568 |
, |
denotes |
, |
T8793 |
18568-18569 |
NN |
denotes |
n |
T8795 |
18570-18571 |
SYM |
denotes |
= |
T8794 |
18572-18573 |
CD |
denotes |
2 |
T8796 |
18574-18575 |
-LRB- |
denotes |
( |
T8798 |
18575-18581 |
NN |
denotes |
XpdTTD |
T8799 |
18581-18582 |
HYPH |
denotes |
/ |
T8797 |
18582-18584 |
NN |
denotes |
KO |
T8800 |
18584-18585 |
-RRB- |
denotes |
) |
T8801 |
18585-18587 |
, |
denotes |
, |
T8802 |
18587-18588 |
NN |
denotes |
n |
T8804 |
18589-18590 |
SYM |
denotes |
= |
T8803 |
18591-18592 |
CD |
denotes |
4 |
T8805 |
18593-18594 |
-LRB- |
denotes |
( |
T8807 |
18594-18600 |
NN |
denotes |
XpdTTD |
T8808 |
18600-18601 |
HYPH |
denotes |
/ |
T8806 |
18601-18606 |
NN |
denotes |
†XPCS |
T8809 |
18607-18608 |
-RRB- |
denotes |
) |
T8810 |
18608-18610 |
, |
denotes |
, |
T8811 |
18610-18611 |
NN |
denotes |
n |
T8813 |
18612-18613 |
SYM |
denotes |
= |
T8812 |
18614-18615 |
CD |
denotes |
2 |
T8814 |
18616-18617 |
-LRB- |
denotes |
( |
T8816 |
18617-18623 |
NN |
denotes |
XpdTTD |
T8817 |
18623-18624 |
HYPH |
denotes |
/ |
T8815 |
18624-18627 |
NN |
denotes |
†XP |
T8818 |
18628-18629 |
-RRB- |
denotes |
) |
T8819 |
18629-18630 |
: |
denotes |
; |
T8820 |
18631-18632 |
CD |
denotes |
1 |
T8822 |
18632-18633 |
SYM |
denotes |
– |
T8821 |
18633-18634 |
CD |
denotes |
2 |
T8824 |
18635-18639 |
NN |
denotes |
cell |
T8823 |
18640-18645 |
NNS |
denotes |
lines |
T8825 |
18646-18649 |
IN |
denotes |
per |
T8826 |
18650-18658 |
NN |
denotes |
genotype |
T8827 |
18659-18663 |
VBD |
denotes |
were |
T8780 |
18664-18672 |
VBN |
denotes |
included |
T8828 |
18673-18675 |
IN |
denotes |
in |
T8829 |
18676-18680 |
DT |
denotes |
each |
T8830 |
18681-18691 |
NN |
denotes |
experiment |
T8831 |
18691-18692 |
. |
denotes |
. |
T8832 |
18692-18799 |
sentence |
denotes |
(D) Incision/excision activity of combinations of altered TFIIH complexes in a reconstituted NER reaction. |
T8833 |
18693-18694 |
-LRB- |
denotes |
( |
T8834 |
18694-18695 |
LS |
denotes |
D |
T8836 |
18695-18696 |
-RRB- |
denotes |
) |
T8837 |
18697-18705 |
NN |
denotes |
Incision |
T8839 |
18705-18706 |
HYPH |
denotes |
/ |
T8838 |
18706-18714 |
NN |
denotes |
excision |
T8835 |
18715-18723 |
NN |
denotes |
activity |
T8840 |
18724-18726 |
IN |
denotes |
of |
T8841 |
18727-18739 |
NNS |
denotes |
combinations |
T8842 |
18740-18742 |
IN |
denotes |
of |
T8843 |
18743-18750 |
VBN |
denotes |
altered |
T8845 |
18751-18756 |
NN |
denotes |
TFIIH |
T8844 |
18757-18766 |
NNS |
denotes |
complexes |
T8846 |
18767-18769 |
IN |
denotes |
in |
T8847 |
18770-18771 |
DT |
denotes |
a |
T8849 |
18772-18785 |
VBN |
denotes |
reconstituted |
T8850 |
18786-18789 |
NN |
denotes |
NER |
T8848 |
18790-18798 |
NN |
denotes |
reaction |
T8851 |
18798-18799 |
. |
denotes |
. |
T8852 |
18799-19053 |
sentence |
denotes |
Equal amounts of single or mixed populations of recombinant TFIIHs (containing XPD, XPB, p62, p52, His-p44, Flag-p34, cdk7, cyclin H, Mat1, and p8) were mixed with recombinant XPG, XPF/ERCC1, XPC/hHR23B, RPA, and a radiolabelled synthetic NER substrate. |
T8853 |
18800-18805 |
JJ |
denotes |
Equal |
T8854 |
18806-18813 |
NNS |
denotes |
amounts |
T8856 |
18814-18816 |
IN |
denotes |
of |
T8857 |
18817-18823 |
JJ |
denotes |
single |
T8859 |
18824-18826 |
CC |
denotes |
or |
T8860 |
18827-18832 |
JJ |
denotes |
mixed |
T8858 |
18833-18844 |
NNS |
denotes |
populations |
T8861 |
18845-18847 |
IN |
denotes |
of |
T8862 |
18848-18859 |
JJ |
denotes |
recombinant |
T8863 |
18860-18866 |
NNS |
denotes |
TFIIHs |
T8864 |
18867-18868 |
-LRB- |
denotes |
( |
T8865 |
18868-18878 |
VBG |
denotes |
containing |
T8866 |
18879-18882 |
NN |
denotes |
XPD |
T8867 |
18882-18884 |
, |
denotes |
, |
T8868 |
18884-18887 |
NN |
denotes |
XPB |
T8869 |
18887-18889 |
, |
denotes |
, |
T8870 |
18889-18892 |
NN |
denotes |
p62 |
T8871 |
18892-18894 |
, |
denotes |
, |
T8872 |
18894-18897 |
NN |
denotes |
p52 |
T8873 |
18897-18899 |
, |
denotes |
, |
T8874 |
18899-18902 |
NN |
denotes |
His |
T8876 |
18902-18903 |
HYPH |
denotes |
- |
T8875 |
18903-18906 |
NN |
denotes |
p44 |
T8877 |
18906-18908 |
, |
denotes |
, |
T8878 |
18908-18912 |
NN |
denotes |
Flag |
T8880 |
18912-18913 |
HYPH |
denotes |
- |
T8879 |
18913-18916 |
NN |
denotes |
p34 |
T8881 |
18916-18918 |
, |
denotes |
, |
T8882 |
18918-18922 |
NN |
denotes |
cdk7 |
T8883 |
18922-18924 |
, |
denotes |
, |
T8884 |
18924-18930 |
NN |
denotes |
cyclin |
T8885 |
18931-18932 |
NN |
denotes |
H |
T8886 |
18932-18934 |
, |
denotes |
, |
T8887 |
18934-18938 |
NN |
denotes |
Mat1 |
T8888 |
18938-18940 |
, |
denotes |
, |
T8889 |
18940-18943 |
CC |
denotes |
and |
T8890 |
18944-18946 |
NN |
denotes |
p8 |
T8891 |
18946-18947 |
-RRB- |
denotes |
) |
T8892 |
18948-18952 |
VBD |
denotes |
were |
T8855 |
18953-18958 |
VBN |
denotes |
mixed |
T8893 |
18959-18963 |
IN |
denotes |
with |
T8894 |
18964-18975 |
JJ |
denotes |
recombinant |
T8895 |
18976-18979 |
NN |
denotes |
XPG |
T8896 |
18979-18981 |
, |
denotes |
, |
T8897 |
18981-18984 |
NN |
denotes |
XPF |
T8899 |
18984-18985 |
HYPH |
denotes |
/ |
T8898 |
18985-18990 |
NN |
denotes |
ERCC1 |
T8900 |
18990-18992 |
, |
denotes |
, |
T8901 |
18992-18995 |
NN |
denotes |
XPC |
T8903 |
18995-18996 |
HYPH |
denotes |
/ |
T8902 |
18996-19002 |
NN |
denotes |
hHR23B |
T8904 |
19002-19004 |
, |
denotes |
, |
T8905 |
19004-19007 |
NN |
denotes |
RPA |
T8906 |
19007-19009 |
, |
denotes |
, |
T8907 |
19009-19012 |
CC |
denotes |
and |
T8908 |
19013-19014 |
DT |
denotes |
a |
T8910 |
19015-19028 |
VBN |
denotes |
radiolabelled |
T8911 |
19029-19038 |
JJ |
denotes |
synthetic |
T8912 |
19039-19042 |
NN |
denotes |
NER |
T8909 |
19043-19052 |
NN |
denotes |
substrate |
T8913 |
19052-19053 |
. |
denotes |
. |
T8914 |
19053-19196 |
sentence |
denotes |
The excision products (26–34 nucleotides in length) were visualised at nucleotide resolution on a denaturing polyacrylamide gel as indicated . |
T8915 |
19054-19057 |
DT |
denotes |
The |
T8917 |
19058-19066 |
NN |
denotes |
excision |
T8916 |
19067-19075 |
NNS |
denotes |
products |
T8919 |
19076-19077 |
-LRB- |
denotes |
( |
T8921 |
19077-19079 |
CD |
denotes |
26 |
T8923 |
19079-19080 |
SYM |
denotes |
– |
T8922 |
19080-19082 |
CD |
denotes |
34 |
T8920 |
19083-19094 |
NNS |
denotes |
nucleotides |
T8924 |
19095-19097 |
IN |
denotes |
in |
T8925 |
19098-19104 |
NN |
denotes |
length |
T8926 |
19104-19105 |
-RRB- |
denotes |
) |
T8927 |
19106-19110 |
VBD |
denotes |
were |
T8918 |
19111-19121 |
VBN |
denotes |
visualised |
T8928 |
19122-19124 |
IN |
denotes |
at |
T8929 |
19125-19135 |
NN |
denotes |
nucleotide |
T8930 |
19136-19146 |
NN |
denotes |
resolution |
T8931 |
19147-19149 |
IN |
denotes |
on |
T8932 |
19150-19151 |
DT |
denotes |
a |
T8934 |
19152-19162 |
VBG |
denotes |
denaturing |
T8935 |
19163-19177 |
NN |
denotes |
polyacrylamide |
T8933 |
19178-19181 |
NN |
denotes |
gel |
T8936 |
19182-19184 |
IN |
denotes |
as |
T8937 |
19185-19194 |
VBN |
denotes |
indicated |
T8938 |
19195-19196 |
. |
denotes |
. |
T8939 |
19196-19347 |
sentence |
denotes |
Note the weak activity corresponding to each single and combined TFIIH complex (lanes 3–8) relative to the wt (lane 1) and negative controls (lane 2). |
T8940 |
19197-19201 |
VB |
denotes |
Note |
T8941 |
19202-19205 |
DT |
denotes |
the |
T8943 |
19206-19210 |
JJ |
denotes |
weak |
T8942 |
19211-19219 |
NN |
denotes |
activity |
T8944 |
19220-19233 |
VBG |
denotes |
corresponding |
T8945 |
19234-19236 |
IN |
denotes |
to |
T8946 |
19237-19241 |
DT |
denotes |
each |
T8948 |
19242-19248 |
JJ |
denotes |
single |
T8949 |
19249-19252 |
CC |
denotes |
and |
T8950 |
19253-19261 |
VBN |
denotes |
combined |
T8951 |
19262-19267 |
NN |
denotes |
TFIIH |
T8947 |
19268-19275 |
NN |
denotes |
complex |
T8952 |
19276-19277 |
-LRB- |
denotes |
( |
T8954 |
19277-19282 |
NNS |
denotes |
lanes |
T8953 |
19283-19284 |
CD |
denotes |
3 |
T8955 |
19284-19285 |
SYM |
denotes |
– |
T8956 |
19285-19286 |
CD |
denotes |
8 |
T8957 |
19286-19287 |
-RRB- |
denotes |
) |
T8958 |
19288-19296 |
JJ |
denotes |
relative |
T8959 |
19297-19299 |
IN |
denotes |
to |
T8960 |
19300-19303 |
DT |
denotes |
the |
T8961 |
19304-19306 |
NN |
denotes |
wt |
T8962 |
19307-19308 |
-LRB- |
denotes |
( |
T8963 |
19308-19312 |
NN |
denotes |
lane |
T8964 |
19313-19314 |
CD |
denotes |
1 |
T8965 |
19314-19315 |
-RRB- |
denotes |
) |
T8966 |
19316-19319 |
CC |
denotes |
and |
T8967 |
19320-19328 |
JJ |
denotes |
negative |
T8968 |
19329-19337 |
NNS |
denotes |
controls |
T8969 |
19338-19339 |
-LRB- |
denotes |
( |
T8970 |
19339-19343 |
NN |
denotes |
lane |
T8971 |
19344-19345 |
CD |
denotes |
2 |
T8972 |
19345-19346 |
-RRB- |
denotes |
) |
T8973 |
19346-19347 |
. |
denotes |
. |
T8974 |
19347-19560 |
sentence |
denotes |
(E) Xpd dose-dependent reduction of TFIIH in homozygous XpdTTD/TTD, hemizygous XpdTTD/KO, and compound heterozygous XpdTTD/†XPCS and XpdTTD/†XP cells by comparative immunofluorescence of the p62 subunit of TFIIH. |
T8975 |
19348-19349 |
-LRB- |
denotes |
( |
T8976 |
19349-19350 |
LS |
denotes |
E |
T8978 |
19350-19351 |
-RRB- |
denotes |
) |
T8979 |
19352-19355 |
NN |
denotes |
Xpd |
T8980 |
19356-19360 |
NN |
denotes |
dose |
T8982 |
19360-19361 |
HYPH |
denotes |
- |
T8981 |
19361-19370 |
JJ |
denotes |
dependent |
T8977 |
19371-19380 |
NN |
denotes |
reduction |
T8983 |
19381-19383 |
IN |
denotes |
of |
T8984 |
19384-19389 |
NN |
denotes |
TFIIH |
T8985 |
19390-19392 |
IN |
denotes |
in |
T8986 |
19393-19403 |
JJ |
denotes |
homozygous |
T8988 |
19404-19410 |
NN |
denotes |
XpdTTD |
T8989 |
19410-19411 |
HYPH |
denotes |
/ |
T8987 |
19411-19414 |
NN |
denotes |
TTD |
T8991 |
19414-19416 |
, |
denotes |
, |
T8992 |
19416-19426 |
JJ |
denotes |
hemizygous |
T8994 |
19427-19433 |
NN |
denotes |
XpdTTD |
T8995 |
19433-19434 |
HYPH |
denotes |
/ |
T8993 |
19434-19436 |
NN |
denotes |
KO |
T8996 |
19436-19438 |
, |
denotes |
, |
T8997 |
19438-19441 |
CC |
denotes |
and |
T8998 |
19442-19450 |
NN |
denotes |
compound |
T9000 |
19451-19463 |
JJ |
denotes |
heterozygous |
T9001 |
19464-19470 |
NN |
denotes |
XpdTTD |
T9002 |
19470-19471 |
HYPH |
denotes |
/ |
T8999 |
19471-19476 |
NN |
denotes |
†XPCS |
T9003 |
19477-19480 |
CC |
denotes |
and |
T9004 |
19481-19487 |
NN |
denotes |
XpdTTD |
T9006 |
19487-19488 |
HYPH |
denotes |
/ |
T9005 |
19488-19491 |
NN |
denotes |
†XP |
T8990 |
19492-19497 |
NNS |
denotes |
cells |
T9007 |
19498-19500 |
IN |
denotes |
by |
T9008 |
19501-19512 |
JJ |
denotes |
comparative |
T9009 |
19513-19531 |
NN |
denotes |
immunofluorescence |
T9010 |
19532-19534 |
IN |
denotes |
of |
T9011 |
19535-19538 |
DT |
denotes |
the |
T9013 |
19539-19542 |
NN |
denotes |
p62 |
T9012 |
19543-19550 |
NN |
denotes |
subunit |
T9014 |
19551-19553 |
IN |
denotes |
of |
T9015 |
19554-19559 |
NN |
denotes |
TFIIH |
T9016 |
19559-19560 |
. |
denotes |
. |
T9017 |
19560-19978 |
sentence |
denotes |
Roman numerals represent different microscopic slides and Arabic numerals different cell lines labelled as follows: (I) wt cells (1) labelled with 2-μm beads, XpdTTD/TTD cells (2) with 0.79-μm beads, and XpdTTD/KO cells (3) with no beads; (II) wt cells (1) labelled with 0.79-μm beads and XpdTTD/†XPCS cells (4) with no beads; and (III) wt cells (1) labelled with 0.79-μm beads and XpdTTD/†XP cells (5) with no beads. |
T9018 |
19561-19566 |
JJ |
denotes |
Roman |
T9019 |
19567-19575 |
NNS |
denotes |
numerals |
T9020 |
19576-19585 |
VBP |
denotes |
represent |
T9021 |
19586-19595 |
JJ |
denotes |
different |
T9023 |
19596-19607 |
JJ |
denotes |
microscopic |
T9022 |
19608-19614 |
NNS |
denotes |
slides |
T9024 |
19615-19618 |
CC |
denotes |
and |
T9025 |
19619-19625 |
JJ |
denotes |
Arabic |
T9026 |
19626-19634 |
NNS |
denotes |
numerals |
T9028 |
19635-19644 |
JJ |
denotes |
different |
T9029 |
19645-19649 |
NN |
denotes |
cell |
T9027 |
19650-19655 |
NNS |
denotes |
lines |
T9030 |
19656-19664 |
VBN |
denotes |
labelled |
T9031 |
19665-19667 |
IN |
denotes |
as |
T9032 |
19668-19675 |
VBZ |
denotes |
follows |
T9033 |
19675-19677 |
: |
denotes |
: |
T9034 |
19677-19678 |
-LRB- |
denotes |
( |
T9035 |
19678-19679 |
LS |
denotes |
I |
T9037 |
19679-19680 |
-RRB- |
denotes |
) |
T9038 |
19681-19683 |
NN |
denotes |
wt |
T9036 |
19684-19689 |
NNS |
denotes |
cells |
T9039 |
19690-19691 |
-LRB- |
denotes |
( |
T9040 |
19691-19692 |
CD |
denotes |
1 |
T9041 |
19692-19693 |
-RRB- |
denotes |
) |
T9042 |
19694-19702 |
VBN |
denotes |
labelled |
T9043 |
19703-19707 |
IN |
denotes |
with |
T9044 |
19708-19709 |
CD |
denotes |
2 |
T9046 |
19709-19710 |
HYPH |
denotes |
- |
T9045 |
19710-19712 |
NN |
denotes |
μm |
T9047 |
19713-19718 |
NNS |
denotes |
beads |
T9048 |
19718-19720 |
, |
denotes |
, |
T9049 |
19720-19726 |
NN |
denotes |
XpdTTD |
T9051 |
19726-19727 |
HYPH |
denotes |
/ |
T9050 |
19727-19730 |
NN |
denotes |
TTD |
T9052 |
19731-19736 |
NNS |
denotes |
cells |
T9053 |
19737-19738 |
-LRB- |
denotes |
( |
T9054 |
19738-19739 |
CD |
denotes |
2 |
T9055 |
19739-19740 |
-RRB- |
denotes |
) |
T9056 |
19741-19745 |
IN |
denotes |
with |
T9057 |
19746-19750 |
CD |
denotes |
0.79 |
T9059 |
19750-19751 |
HYPH |
denotes |
- |
T9058 |
19751-19753 |
NN |
denotes |
μm |
T9060 |
19754-19759 |
NNS |
denotes |
beads |
T9061 |
19759-19761 |
, |
denotes |
, |
T9062 |
19761-19764 |
CC |
denotes |
and |
T9063 |
19765-19771 |
NN |
denotes |
XpdTTD |
T9065 |
19771-19772 |
HYPH |
denotes |
/ |
T9064 |
19772-19774 |
NN |
denotes |
KO |
T9066 |
19775-19780 |
NNS |
denotes |
cells |
T9067 |
19781-19782 |
-LRB- |
denotes |
( |
T9068 |
19782-19783 |
CD |
denotes |
3 |
T9069 |
19783-19784 |
-RRB- |
denotes |
) |
T9070 |
19785-19789 |
IN |
denotes |
with |
T9071 |
19790-19792 |
DT |
denotes |
no |
T9072 |
19793-19798 |
NNS |
denotes |
beads |
T9073 |
19798-19799 |
: |
denotes |
; |
T9074 |
19800-19801 |
-LRB- |
denotes |
( |
T9075 |
19801-19803 |
LS |
denotes |
II |
T9077 |
19803-19804 |
-RRB- |
denotes |
) |
T9078 |
19805-19807 |
NN |
denotes |
wt |
T9076 |
19808-19813 |
NNS |
denotes |
cells |
T9079 |
19814-19815 |
-LRB- |
denotes |
( |
T9080 |
19815-19816 |
CD |
denotes |
1 |
T9081 |
19816-19817 |
-RRB- |
denotes |
) |
T9082 |
19818-19826 |
VBN |
denotes |
labelled |
T9083 |
19827-19831 |
IN |
denotes |
with |
T9084 |
19832-19836 |
CD |
denotes |
0.79 |
T9086 |
19836-19837 |
HYPH |
denotes |
- |
T9085 |
19837-19839 |
NN |
denotes |
μm |
T9087 |
19840-19845 |
NNS |
denotes |
beads |
T9088 |
19846-19849 |
CC |
denotes |
and |
T9089 |
19850-19856 |
NN |
denotes |
XpdTTD |
T9091 |
19856-19857 |
HYPH |
denotes |
/ |
T9090 |
19857-19862 |
NN |
denotes |
†XPCS |
T9092 |
19863-19868 |
NNS |
denotes |
cells |
T9093 |
19869-19870 |
-LRB- |
denotes |
( |
T9094 |
19870-19871 |
CD |
denotes |
4 |
T9095 |
19871-19872 |
-RRB- |
denotes |
) |
T9096 |
19873-19877 |
IN |
denotes |
with |
T9097 |
19878-19880 |
DT |
denotes |
no |
T9098 |
19881-19886 |
NNS |
denotes |
beads |
T9099 |
19886-19887 |
: |
denotes |
; |
T9100 |
19888-19891 |
CC |
denotes |
and |
T9101 |
19892-19893 |
-LRB- |
denotes |
( |
T9102 |
19893-19896 |
LS |
denotes |
III |
T9104 |
19896-19897 |
-RRB- |
denotes |
) |
T9105 |
19898-19900 |
NN |
denotes |
wt |
T9103 |
19901-19906 |
NNS |
denotes |
cells |
T9106 |
19907-19908 |
-LRB- |
denotes |
( |
T9107 |
19908-19909 |
CD |
denotes |
1 |
T9108 |
19909-19910 |
-RRB- |
denotes |
) |
T9109 |
19911-19919 |
VBN |
denotes |
labelled |
T9110 |
19920-19924 |
IN |
denotes |
with |
T9111 |
19925-19929 |
CD |
denotes |
0.79 |
T9113 |
19929-19930 |
HYPH |
denotes |
- |
T9112 |
19930-19932 |
NN |
denotes |
μm |
T9114 |
19933-19938 |
NNS |
denotes |
beads |
T9115 |
19939-19942 |
CC |
denotes |
and |
T9116 |
19943-19949 |
NN |
denotes |
XpdTTD |
T9118 |
19949-19950 |
HYPH |
denotes |
/ |
T9117 |
19950-19953 |
NN |
denotes |
†XP |
T9119 |
19954-19959 |
NNS |
denotes |
cells |
T9120 |
19960-19961 |
-LRB- |
denotes |
( |
T9121 |
19961-19962 |
CD |
denotes |
5 |
T9122 |
19962-19963 |
-RRB- |
denotes |
) |
T9123 |
19964-19968 |
IN |
denotes |
with |
T9124 |
19969-19971 |
DT |
denotes |
no |
T9125 |
19972-19977 |
NNS |
denotes |
beads |
T9126 |
19977-19978 |
. |
denotes |
. |
T9127 |
19978-20097 |
sentence |
denotes |
(F) Quantification of immunofluorescent signal from at least 50 nuclei per cell line and 2–6 experiments per genotype. |
T9128 |
19979-19980 |
-LRB- |
denotes |
( |
T9129 |
19980-19981 |
LS |
denotes |
F |
T9131 |
19981-19982 |
-RRB- |
denotes |
) |
T9130 |
19983-19997 |
NN |
denotes |
Quantification |
T9132 |
19998-20000 |
IN |
denotes |
of |
T9133 |
20001-20018 |
JJ |
denotes |
immunofluorescent |
T9134 |
20019-20025 |
NN |
denotes |
signal |
T9135 |
20026-20030 |
IN |
denotes |
from |
T9136 |
20031-20033 |
RB |
denotes |
at |
T9138 |
20034-20039 |
RBS |
denotes |
least |
T9137 |
20040-20042 |
CD |
denotes |
50 |
T9139 |
20043-20049 |
NNS |
denotes |
nuclei |
T9140 |
20050-20053 |
IN |
denotes |
per |
T9141 |
20054-20058 |
NN |
denotes |
cell |
T9142 |
20059-20063 |
NN |
denotes |
line |
T9143 |
20064-20067 |
CC |
denotes |
and |
T9144 |
20068-20069 |
CD |
denotes |
2 |
T9146 |
20069-20070 |
SYM |
denotes |
– |
T9145 |
20070-20071 |
CD |
denotes |
6 |
T9147 |
20072-20083 |
NNS |
denotes |
experiments |
T9148 |
20084-20087 |
IN |
denotes |
per |
T9149 |
20088-20096 |
NN |
denotes |
genotype |
T9150 |
20096-20097 |
. |
denotes |
. |
T9151 |
20097-20208 |
sentence |
denotes |
Bars representing cells analysed on the same microscopic slide are depicted side by side, with wt set at 100%. |
T9152 |
20098-20102 |
NNS |
denotes |
Bars |
T9154 |
20103-20115 |
VBG |
denotes |
representing |
T9155 |
20116-20121 |
NNS |
denotes |
cells |
T9156 |
20122-20130 |
VBN |
denotes |
analysed |
T9157 |
20131-20133 |
IN |
denotes |
on |
T9158 |
20134-20137 |
DT |
denotes |
the |
T9160 |
20138-20142 |
JJ |
denotes |
same |
T9161 |
20143-20154 |
JJ |
denotes |
microscopic |
T9159 |
20155-20160 |
NN |
denotes |
slide |
T9162 |
20161-20164 |
VBP |
denotes |
are |
T9153 |
20165-20173 |
VBN |
denotes |
depicted |
T9163 |
20174-20178 |
NN |
denotes |
side |
T9164 |
20179-20181 |
IN |
denotes |
by |
T9165 |
20182-20186 |
NN |
denotes |
side |
T9166 |
20186-20188 |
, |
denotes |
, |
T9167 |
20188-20192 |
IN |
denotes |
with |
T9168 |
20193-20195 |
NN |
denotes |
wt |
T9169 |
20196-20199 |
VBN |
denotes |
set |
T9170 |
20200-20202 |
IN |
denotes |
at |
T9171 |
20203-20206 |
CD |
denotes |
100 |
T9172 |
20206-20207 |
NN |
denotes |
% |
T9173 |
20207-20208 |
. |
denotes |
. |
T9174 |
20208-20363 |
sentence |
denotes |
The p-value indicates minimum significant difference between wt and the indicated cell lines analysed on the same microscopic slide within one experiment. |
T9175 |
20209-20212 |
DT |
denotes |
The |
T9177 |
20213-20214 |
NN |
denotes |
p |
T9178 |
20214-20215 |
HYPH |
denotes |
- |
T9176 |
20215-20220 |
NN |
denotes |
value |
T9179 |
20221-20230 |
VBZ |
denotes |
indicates |
T9180 |
20231-20238 |
JJ |
denotes |
minimum |
T9182 |
20239-20250 |
JJ |
denotes |
significant |
T9181 |
20251-20261 |
NN |
denotes |
difference |
T9183 |
20262-20269 |
IN |
denotes |
between |
T9184 |
20270-20272 |
NN |
denotes |
wt |
T9185 |
20273-20276 |
CC |
denotes |
and |
T9186 |
20277-20280 |
DT |
denotes |
the |
T9188 |
20281-20290 |
VBN |
denotes |
indicated |
T9189 |
20291-20295 |
NN |
denotes |
cell |
T9187 |
20296-20301 |
NNS |
denotes |
lines |
T9190 |
20302-20310 |
VBN |
denotes |
analysed |
T9191 |
20311-20313 |
IN |
denotes |
on |
T9192 |
20314-20317 |
DT |
denotes |
the |
T9194 |
20318-20322 |
JJ |
denotes |
same |
T9195 |
20323-20334 |
JJ |
denotes |
microscopic |
T9193 |
20335-20340 |
NN |
denotes |
slide |
T9196 |
20341-20347 |
IN |
denotes |
within |
T9197 |
20348-20351 |
CD |
denotes |
one |
T9198 |
20352-20362 |
NN |
denotes |
experiment |
T9199 |
20362-20363 |
. |
denotes |
. |
T3772 |
20364-20366 |
NN |
denotes |
Ne |
T3771 |
20364-20373 |
sentence |
denotes |
Next we a |
T3773 |
20366-20368 |
NNS |
denotes |
xt |
T3774 |
20368-20369 |
: |
denotes |
|
T3775 |
20369-20371 |
VBD |
denotes |
we |
T3776 |
20372-20373 |
DT |
denotes |
a |
T3778 |
20373-20375 |
NN |
denotes |
sk |
T3777 |
20373-20383 |
sentence |
denotes |
sked wheth |
T3779 |
20375-20376 |
VBZ |
denotes |
e |
T3781 |
20376-20377 |
NN |
denotes |
d |
T3782 |
20378-20380 |
IN |
denotes |
wh |
T3783 |
20380-20381 |
NNS |
denotes |
e |
T3780 |
20381-20382 |
VBP |
denotes |
t |
T3784 |
20382-20383 |
IN |
denotes |
h |
T3786 |
20383-20385 |
NN |
denotes |
er |
T3785 |
20383-20387 |
sentence |
denotes |
er t |
T3787 |
20386-20387 |
NN |
denotes |
t |
T3789 |
20387-20388 |
DT |
denotes |
h |
T3788 |
20387-20389 |
sentence |
denotes |
he |
T3790 |
20388-20389 |
NN |
denotes |
e |
T3791 |
20389-20390 |
sentence |
denotes |
|
T3793 |
20390-20391 |
NN |
denotes |
X |
T3792 |
20390-20393 |
sentence |
denotes |
Xpd |
T3794 |
20391-20392 |
NN |
denotes |
p |
T3795 |
20392-20393 |
NN |
denotes |
d |
T3797 |
20393-20398 |
NN |
denotes |
†XPCS |
T3796 |
20393-20412 |
sentence |
denotes |
†XPCS and Xpd†XP al |
T3798 |
20399-20402 |
CC |
denotes |
and |
T3799 |
20403-20406 |
NN |
denotes |
Xpd |
T3800 |
20406-20409 |
NN |
denotes |
†XP |
T3801 |
20410-20411 |
JJ |
denotes |
a |
T3802 |
20411-20412 |
NN |
denotes |
l |
T3804 |
20412-20413 |
NNS |
denotes |
l |
T3803 |
20412-20430 |
sentence |
denotes |
leles, despite dec |
T3805 |
20413-20414 |
VBP |
denotes |
e |
T3806 |
20414-20417 |
NNS |
denotes |
les |
T3807 |
20417-20419 |
, |
denotes |
, |
T3808 |
20419-20420 |
NN |
denotes |
d |
T3809 |
20420-20422 |
NNS |
denotes |
es |
T3810 |
20422-20423 |
NN |
denotes |
p |
T3811 |
20423-20425 |
IN |
denotes |
it |
T3812 |
20425-20426 |
NNS |
denotes |
e |
T3813 |
20427-20428 |
VBN |
denotes |
d |
T3814 |
20428-20429 |
NNS |
denotes |
e |
T3815 |
20429-20430 |
NNS |
denotes |
c |
T3817 |
20430-20432 |
JJ |
denotes |
re |
T3816 |
20430-20438 |
sentence |
denotes |
reased m |
T3818 |
20432-20433 |
NN |
denotes |
a |
T3819 |
20433-20434 |
RBS |
denotes |
s |
T3820 |
20434-20435 |
NNS |
denotes |
e |
T3821 |
20435-20436 |
CC |
denotes |
d |
T3822 |
20437-20438 |
NNS |
denotes |
m |
T3826 |
20438-20441 |
NN |
denotes |
RNA |
T3823 |
20438-20571 |
sentence |
denotes |
RNA levels, ameliorated TTD symptoms by increasing overall TFIIH levels in compound heterozygous XpdTTD/ †XPCS and XpdTTD/ †XP cells. |
T3825 |
20442-20448 |
NNS |
denotes |
levels |
T3827 |
20448-20450 |
, |
denotes |
, |
T3824 |
20450-20461 |
VBN |
denotes |
ameliorated |
T3828 |
20462-20465 |
NN |
denotes |
TTD |
T3829 |
20466-20474 |
NNS |
denotes |
symptoms |
T3830 |
20475-20477 |
IN |
denotes |
by |
T3831 |
20478-20488 |
VBG |
denotes |
increasing |
T3833 |
20489-20496 |
JJ |
denotes |
overall |
T3834 |
20497-20502 |
NN |
denotes |
TFIIH |
T3832 |
20503-20509 |
NNS |
denotes |
levels |
T3835 |
20510-20512 |
IN |
denotes |
in |
T3836 |
20513-20521 |
NN |
denotes |
compound |
T3838 |
20522-20534 |
JJ |
denotes |
heterozygous |
T3839 |
20535-20541 |
NN |
denotes |
XpdTTD |
T3841 |
20541-20542 |
HYPH |
denotes |
/ |
T3840 |
20542-20548 |
NN |
denotes |
†XPCS |
T3842 |
20549-20552 |
CC |
denotes |
and |
T3843 |
20553-20559 |
NN |
denotes |
XpdTTD |
T3845 |
20559-20560 |
HYPH |
denotes |
/ |
T3844 |
20560-20564 |
NN |
denotes |
†XP |
T3837 |
20565-20570 |
NNS |
denotes |
cells |
T3846 |
20570-20571 |
. |
denotes |
. |
T3847 |
20571-20793 |
sentence |
denotes |
Previously, using comparative immunohistochemistry, we and others have shown an up to 70% reduction of TFIIH levels in primary fibroblasts from patients with TTD compared with wt controls due to reduced stability [16,17]. |
T3848 |
20572-20582 |
RB |
denotes |
Previously |
T3850 |
20582-20584 |
, |
denotes |
, |
T3851 |
20584-20589 |
VBG |
denotes |
using |
T3852 |
20590-20601 |
JJ |
denotes |
comparative |
T3853 |
20602-20622 |
NN |
denotes |
immunohistochemistry |
T3854 |
20622-20624 |
, |
denotes |
, |
T3855 |
20624-20626 |
PRP |
denotes |
we |
T3856 |
20627-20630 |
CC |
denotes |
and |
T3857 |
20631-20637 |
NNS |
denotes |
others |
T3858 |
20638-20642 |
VBP |
denotes |
have |
T3849 |
20643-20648 |
VBN |
denotes |
shown |
T3859 |
20649-20651 |
DT |
denotes |
an |
T3861 |
20652-20654 |
IN |
denotes |
up |
T3863 |
20655-20657 |
IN |
denotes |
to |
T3862 |
20658-20660 |
CD |
denotes |
70 |
T3864 |
20660-20661 |
NN |
denotes |
% |
T3860 |
20662-20671 |
NN |
denotes |
reduction |
T3865 |
20672-20674 |
IN |
denotes |
of |
T3866 |
20675-20680 |
NN |
denotes |
TFIIH |
T3867 |
20681-20687 |
NNS |
denotes |
levels |
T3868 |
20688-20690 |
IN |
denotes |
in |
T3869 |
20691-20698 |
JJ |
denotes |
primary |
T3870 |
20699-20710 |
NNS |
denotes |
fibroblasts |
T3871 |
20711-20715 |
IN |
denotes |
from |
T3872 |
20716-20724 |
NNS |
denotes |
patients |
T3873 |
20725-20729 |
IN |
denotes |
with |
T3874 |
20730-20733 |
NN |
denotes |
TTD |
T3875 |
20734-20742 |
VBN |
denotes |
compared |
T3876 |
20743-20747 |
IN |
denotes |
with |
T3877 |
20748-20750 |
NN |
denotes |
wt |
T3878 |
20751-20759 |
NNS |
denotes |
controls |
T3879 |
20760-20763 |
IN |
denotes |
due |
T3880 |
20764-20766 |
IN |
denotes |
to |
T3881 |
20767-20774 |
VBN |
denotes |
reduced |
T3882 |
20775-20784 |
NN |
denotes |
stability |
T3883 |
20785-20786 |
-LRB- |
denotes |
[ |
T3885 |
20786-20788 |
CD |
denotes |
16 |
T3886 |
20788-20789 |
, |
denotes |
, |
T3884 |
20789-20791 |
CD |
denotes |
17 |
T3887 |
20791-20792 |
-RRB- |
denotes |
] |
T3888 |
20792-20793 |
. |
denotes |
. |
T3889 |
20793-21047 |
sentence |
denotes |
Despite overexpression of mRNA from the XpdTTD allele relative to the wt allele (Figure 1E), TFIIH protein levels were reduced by 50% in primary mouse XpdTTD/TTD fibroblasts (Figure 4E and 4F), thereby mimicking the situation in human patients with TTD. |
T3890 |
20794-20801 |
IN |
denotes |
Despite |
T3892 |
20802-20816 |
NN |
denotes |
overexpression |
T3893 |
20817-20819 |
IN |
denotes |
of |
T3894 |
20820-20824 |
NN |
denotes |
mRNA |
T3895 |
20825-20829 |
IN |
denotes |
from |
T3896 |
20830-20833 |
DT |
denotes |
the |
T3898 |
20834-20840 |
NN |
denotes |
XpdTTD |
T3897 |
20841-20847 |
NN |
denotes |
allele |
T3899 |
20848-20856 |
JJ |
denotes |
relative |
T3900 |
20857-20859 |
IN |
denotes |
to |
T3901 |
20860-20863 |
DT |
denotes |
the |
T3903 |
20864-20866 |
NN |
denotes |
wt |
T3902 |
20867-20873 |
NN |
denotes |
allele |
T3904 |
20874-20875 |
-LRB- |
denotes |
( |
T3906 |
20875-20881 |
NN |
denotes |
Figure |
T3905 |
20882-20884 |
NN |
denotes |
1E |
T3907 |
20884-20885 |
-RRB- |
denotes |
) |
T3908 |
20885-20887 |
, |
denotes |
, |
T3909 |
20887-20892 |
NN |
denotes |
TFIIH |
T3911 |
20893-20900 |
NN |
denotes |
protein |
T3910 |
20901-20907 |
NNS |
denotes |
levels |
T3912 |
20908-20912 |
VBD |
denotes |
were |
T3891 |
20913-20920 |
VBN |
denotes |
reduced |
T3913 |
20921-20923 |
IN |
denotes |
by |
T3914 |
20924-20926 |
CD |
denotes |
50 |
T3915 |
20926-20927 |
NN |
denotes |
% |
T3916 |
20928-20930 |
IN |
denotes |
in |
T3917 |
20931-20938 |
JJ |
denotes |
primary |
T3919 |
20939-20944 |
NN |
denotes |
mouse |
T3920 |
20945-20951 |
NN |
denotes |
XpdTTD |
T3922 |
20951-20952 |
HYPH |
denotes |
/ |
T3921 |
20952-20955 |
NN |
denotes |
TTD |
T3918 |
20956-20967 |
NNS |
denotes |
fibroblasts |
T3923 |
20968-20969 |
-LRB- |
denotes |
( |
T3925 |
20969-20975 |
NN |
denotes |
Figure |
T3924 |
20976-20978 |
NN |
denotes |
4E |
T3926 |
20979-20982 |
CC |
denotes |
and |
T3927 |
20983-20985 |
NN |
denotes |
4F |
T3928 |
20985-20986 |
-RRB- |
denotes |
) |
T3929 |
20986-20988 |
, |
denotes |
, |
T3930 |
20988-20995 |
RB |
denotes |
thereby |
T3931 |
20996-21005 |
VBG |
denotes |
mimicking |
T3932 |
21006-21009 |
DT |
denotes |
the |
T3933 |
21010-21019 |
NN |
denotes |
situation |
T3934 |
21020-21022 |
IN |
denotes |
in |
T3935 |
21023-21028 |
JJ |
denotes |
human |
T3936 |
21029-21037 |
NNS |
denotes |
patients |
T3937 |
21038-21042 |
IN |
denotes |
with |
T3938 |
21043-21046 |
NN |
denotes |
TTD |
T3939 |
21046-21047 |
. |
denotes |
. |
T3940 |
21047-21176 |
sentence |
denotes |
In accordance with the gene dosage, a further reduction of up to 70% of the wt level was observed in hemizygous XpdTTD/KO cells. |
T3941 |
21048-21050 |
IN |
denotes |
In |
T3943 |
21051-21061 |
NN |
denotes |
accordance |
T3944 |
21062-21066 |
IN |
denotes |
with |
T3945 |
21067-21070 |
DT |
denotes |
the |
T3947 |
21071-21075 |
NN |
denotes |
gene |
T3946 |
21076-21082 |
NN |
denotes |
dosage |
T3948 |
21082-21084 |
, |
denotes |
, |
T3949 |
21084-21085 |
DT |
denotes |
a |
T3951 |
21086-21093 |
JJ |
denotes |
further |
T3950 |
21094-21103 |
NN |
denotes |
reduction |
T3952 |
21104-21106 |
IN |
denotes |
of |
T3953 |
21107-21109 |
IN |
denotes |
up |
T3955 |
21110-21112 |
IN |
denotes |
to |
T3954 |
21113-21115 |
CD |
denotes |
70 |
T3956 |
21115-21116 |
NN |
denotes |
% |
T3957 |
21117-21119 |
IN |
denotes |
of |
T3958 |
21120-21123 |
DT |
denotes |
the |
T3960 |
21124-21126 |
NN |
denotes |
wt |
T3959 |
21127-21132 |
NN |
denotes |
level |
T3961 |
21133-21136 |
VBD |
denotes |
was |
T3942 |
21137-21145 |
VBN |
denotes |
observed |
T3962 |
21146-21148 |
IN |
denotes |
in |
T3963 |
21149-21159 |
JJ |
denotes |
hemizygous |
T3965 |
21160-21166 |
NN |
denotes |
XpdTTD |
T3967 |
21166-21167 |
HYPH |
denotes |
/ |
T3966 |
21167-21169 |
NN |
denotes |
KO |
T3964 |
21170-21175 |
NNS |
denotes |
cells |
T3968 |
21175-21176 |
. |
denotes |
. |
T3969 |
21176-21370 |
sentence |
denotes |
Consistent with low mRNA expression levels, neither the Xpd†XPCS nor the Xpd†XP allele was able to restore TFIIH abundance to wt levels in XpdTTD compound heterozygote cells (Figure 4E and 4F). |
T3970 |
21177-21187 |
JJ |
denotes |
Consistent |
T3972 |
21188-21192 |
IN |
denotes |
with |
T3973 |
21193-21196 |
JJ |
denotes |
low |
T3975 |
21197-21201 |
NN |
denotes |
mRNA |
T3976 |
21202-21212 |
NN |
denotes |
expression |
T3974 |
21213-21219 |
NNS |
denotes |
levels |
T3977 |
21219-21221 |
, |
denotes |
, |
T3978 |
21221-21228 |
CC |
denotes |
neither |
T3980 |
21229-21232 |
DT |
denotes |
the |
T3981 |
21233-21241 |
NN |
denotes |
Xpd†XPCS |
T3982 |
21242-21245 |
CC |
denotes |
nor |
T3983 |
21246-21249 |
DT |
denotes |
the |
T3984 |
21250-21256 |
NN |
denotes |
Xpd†XP |
T3979 |
21257-21263 |
NN |
denotes |
allele |
T3971 |
21264-21267 |
VBD |
denotes |
was |
T3985 |
21268-21272 |
JJ |
denotes |
able |
T3986 |
21273-21275 |
TO |
denotes |
to |
T3987 |
21276-21283 |
VB |
denotes |
restore |
T3988 |
21284-21289 |
NN |
denotes |
TFIIH |
T3989 |
21290-21299 |
NN |
denotes |
abundance |
T3990 |
21300-21302 |
IN |
denotes |
to |
T3991 |
21303-21305 |
NN |
denotes |
wt |
T3992 |
21306-21312 |
NNS |
denotes |
levels |
T3993 |
21313-21315 |
IN |
denotes |
in |
T3994 |
21316-21322 |
NN |
denotes |
XpdTTD |
T3996 |
21323-21331 |
NN |
denotes |
compound |
T3997 |
21332-21344 |
NN |
denotes |
heterozygote |
T3995 |
21345-21350 |
NNS |
denotes |
cells |
T3998 |
21351-21352 |
-LRB- |
denotes |
( |
T4000 |
21352-21358 |
NN |
denotes |
Figure |
T3999 |
21359-21361 |
NN |
denotes |
4E |
T4001 |
21362-21365 |
CC |
denotes |
and |
T4002 |
21366-21368 |
NN |
denotes |
4F |
T4003 |
21368-21369 |
-RRB- |
denotes |
) |
T4004 |
21369-21370 |
. |
denotes |
. |
T4005 |
21370-21647 |
sentence |
denotes |
Thus, the improved UV survival observed in compound heterozygote cells (Figure 4A) and likely the rescue of TTD progeroid symptoms (Figure 3) were not due to normalisation of TFIIH levels, suggesting a qualitative rather than a quantitative effect on these phenotypes in vivo. |
T4006 |
21371-21375 |
RB |
denotes |
Thus |
T4008 |
21375-21377 |
, |
denotes |
, |
T4009 |
21377-21380 |
DT |
denotes |
the |
T4011 |
21381-21389 |
VBN |
denotes |
improved |
T4012 |
21390-21392 |
NN |
denotes |
UV |
T4010 |
21393-21401 |
NN |
denotes |
survival |
T4013 |
21402-21410 |
VBN |
denotes |
observed |
T4014 |
21411-21413 |
IN |
denotes |
in |
T4015 |
21414-21422 |
NN |
denotes |
compound |
T4017 |
21423-21435 |
NN |
denotes |
heterozygote |
T4016 |
21436-21441 |
NNS |
denotes |
cells |
T4018 |
21442-21443 |
-LRB- |
denotes |
( |
T4020 |
21443-21449 |
NN |
denotes |
Figure |
T4019 |
21450-21452 |
NN |
denotes |
4A |
T4021 |
21452-21453 |
-RRB- |
denotes |
) |
T4022 |
21454-21457 |
CC |
denotes |
and |
T4023 |
21458-21464 |
RB |
denotes |
likely |
T4025 |
21465-21468 |
DT |
denotes |
the |
T4024 |
21469-21475 |
NN |
denotes |
rescue |
T4026 |
21476-21478 |
IN |
denotes |
of |
T4027 |
21479-21482 |
NN |
denotes |
TTD |
T4029 |
21483-21492 |
NN |
denotes |
progeroid |
T4028 |
21493-21501 |
NNS |
denotes |
symptoms |
T4030 |
21502-21503 |
-LRB- |
denotes |
( |
T4031 |
21503-21509 |
NN |
denotes |
Figure |
T4032 |
21510-21511 |
CD |
denotes |
3 |
T4033 |
21511-21512 |
-RRB- |
denotes |
) |
T4007 |
21513-21517 |
VBD |
denotes |
were |
T4034 |
21518-21521 |
RB |
denotes |
not |
T4035 |
21522-21525 |
IN |
denotes |
due |
T4036 |
21526-21528 |
IN |
denotes |
to |
T4037 |
21529-21542 |
NN |
denotes |
normalisation |
T4038 |
21543-21545 |
IN |
denotes |
of |
T4039 |
21546-21551 |
NN |
denotes |
TFIIH |
T4040 |
21552-21558 |
NNS |
denotes |
levels |
T4041 |
21558-21560 |
, |
denotes |
, |
T4042 |
21560-21570 |
VBG |
denotes |
suggesting |
T4043 |
21571-21572 |
DT |
denotes |
a |
T4044 |
21573-21584 |
JJ |
denotes |
qualitative |
T4046 |
21585-21591 |
RB |
denotes |
rather |
T4047 |
21592-21596 |
IN |
denotes |
than |
T4048 |
21597-21598 |
DT |
denotes |
a |
T4049 |
21599-21611 |
JJ |
denotes |
quantitative |
T4045 |
21612-21618 |
NN |
denotes |
effect |
T4050 |
21619-21621 |
IN |
denotes |
on |
T4051 |
21622-21627 |
DT |
denotes |
these |
T4052 |
21628-21638 |
NNS |
denotes |
phenotypes |
T4053 |
21639-21641 |
FW |
denotes |
in |
T4054 |
21642-21646 |
FW |
denotes |
vivo |
T4055 |
21646-21647 |
. |
denotes |
. |
T4056 |
21647-21796 |
sentence |
denotes |
In contrast, the level of XPCS mRNA expression did affect the ability of the encoded protein (XPDG602D) to restore the TTD hair phenotype to normal. |
T4057 |
21648-21650 |
IN |
denotes |
In |
T4059 |
21651-21659 |
NN |
denotes |
contrast |
T4060 |
21659-21661 |
, |
denotes |
, |
T4061 |
21661-21664 |
DT |
denotes |
the |
T4062 |
21665-21670 |
NN |
denotes |
level |
T4063 |
21671-21673 |
IN |
denotes |
of |
T4064 |
21674-21678 |
NN |
denotes |
XPCS |
T4066 |
21679-21683 |
NN |
denotes |
mRNA |
T4065 |
21684-21694 |
NN |
denotes |
expression |
T4067 |
21695-21698 |
VBD |
denotes |
did |
T4058 |
21699-21705 |
VB |
denotes |
affect |
T4068 |
21706-21709 |
DT |
denotes |
the |
T4069 |
21710-21717 |
NN |
denotes |
ability |
T4070 |
21718-21720 |
IN |
denotes |
of |
T4071 |
21721-21724 |
DT |
denotes |
the |
T4073 |
21725-21732 |
VBN |
denotes |
encoded |
T4072 |
21733-21740 |
NN |
denotes |
protein |
T4074 |
21741-21742 |
-LRB- |
denotes |
( |
T4075 |
21742-21750 |
NN |
denotes |
XPDG602D |
T4076 |
21750-21751 |
-RRB- |
denotes |
) |
T4077 |
21752-21754 |
TO |
denotes |
to |
T4078 |
21755-21762 |
VB |
denotes |
restore |
T4079 |
21763-21766 |
DT |
denotes |
the |
T4081 |
21767-21770 |
NN |
denotes |
TTD |
T4082 |
21771-21775 |
NN |
denotes |
hair |
T4080 |
21776-21785 |
NN |
denotes |
phenotype |
T4083 |
21786-21788 |
IN |
denotes |
to |
T4084 |
21789-21795 |
JJ |
denotes |
normal |
T4085 |
21795-21796 |
. |
denotes |
. |
T4086 |
21796-22059 |
sentence |
denotes |
Notably, XpdTTD/ †XPCS animals had a partial TTD hair phenotype, correlating with low levels of Xpd†XPCS expression, whereas XpdTTD/XPCS animals had wt hair, correlating with normal expression levels from the viable XpdXPCS allele (Table 2 and unpublished data). |
T4087 |
21797-21804 |
RB |
denotes |
Notably |
T4089 |
21804-21806 |
, |
denotes |
, |
T4090 |
21806-21812 |
NN |
denotes |
XpdTTD |
T4092 |
21812-21813 |
HYPH |
denotes |
/ |
T4091 |
21813-21819 |
NN |
denotes |
†XPCS |
T4093 |
21820-21827 |
NNS |
denotes |
animals |
T4088 |
21828-21831 |
VBD |
denotes |
had |
T4094 |
21832-21833 |
DT |
denotes |
a |
T4096 |
21834-21841 |
JJ |
denotes |
partial |
T4097 |
21842-21845 |
NN |
denotes |
TTD |
T4098 |
21846-21850 |
NN |
denotes |
hair |
T4095 |
21851-21860 |
NN |
denotes |
phenotype |
T4099 |
21860-21862 |
, |
denotes |
, |
T4100 |
21862-21873 |
VBG |
denotes |
correlating |
T4101 |
21874-21878 |
IN |
denotes |
with |
T4102 |
21879-21882 |
JJ |
denotes |
low |
T4103 |
21883-21889 |
NNS |
denotes |
levels |
T4104 |
21890-21892 |
IN |
denotes |
of |
T4105 |
21893-21901 |
NN |
denotes |
Xpd†XPCS |
T4106 |
21902-21912 |
NN |
denotes |
expression |
T4107 |
21912-21914 |
, |
denotes |
, |
T4108 |
21914-21921 |
IN |
denotes |
whereas |
T4110 |
21922-21928 |
NN |
denotes |
XpdTTD |
T4112 |
21928-21929 |
HYPH |
denotes |
/ |
T4111 |
21929-21933 |
NN |
denotes |
XPCS |
T4113 |
21934-21941 |
NNS |
denotes |
animals |
T4109 |
21942-21945 |
VBD |
denotes |
had |
T4114 |
21946-21948 |
NN |
denotes |
wt |
T4115 |
21949-21953 |
NN |
denotes |
hair |
T4116 |
21953-21955 |
, |
denotes |
, |
T4117 |
21955-21966 |
VBG |
denotes |
correlating |
T4118 |
21967-21971 |
IN |
denotes |
with |
T4119 |
21972-21978 |
JJ |
denotes |
normal |
T4121 |
21979-21989 |
NN |
denotes |
expression |
T4120 |
21990-21996 |
NNS |
denotes |
levels |
T4122 |
21997-22001 |
IN |
denotes |
from |
T4123 |
22002-22005 |
DT |
denotes |
the |
T4125 |
22006-22012 |
JJ |
denotes |
viable |
T4126 |
22013-22020 |
NN |
denotes |
XpdXPCS |
T4124 |
22021-22027 |
NN |
denotes |
allele |
T4127 |
22028-22029 |
-LRB- |
denotes |
( |
T4128 |
22029-22034 |
NN |
denotes |
Table |
T4129 |
22035-22036 |
CD |
denotes |
2 |
T4130 |
22037-22040 |
CC |
denotes |
and |
T4131 |
22041-22052 |
JJ |
denotes |
unpublished |
T4132 |
22053-22057 |
NNS |
denotes |
data |
T4133 |
22057-22058 |
-RRB- |
denotes |
) |
T4134 |
22058-22059 |
. |
denotes |
. |
T4135 |
22059-22187 |
sentence |
denotes |
Thus, the range of expression levels from these two mutant alleles affected their ability to complement some phenotypes (hair). |
T4136 |
22060-22064 |
RB |
denotes |
Thus |
T4138 |
22064-22066 |
, |
denotes |
, |
T4139 |
22066-22069 |
DT |
denotes |
the |
T4140 |
22070-22075 |
NN |
denotes |
range |
T4141 |
22076-22078 |
IN |
denotes |
of |
T4142 |
22079-22089 |
NN |
denotes |
expression |
T4143 |
22090-22096 |
NNS |
denotes |
levels |
T4144 |
22097-22101 |
IN |
denotes |
from |
T4145 |
22102-22107 |
DT |
denotes |
these |
T4147 |
22108-22111 |
CD |
denotes |
two |
T4148 |
22112-22118 |
JJ |
denotes |
mutant |
T4146 |
22119-22126 |
NNS |
denotes |
alleles |
T4137 |
22127-22135 |
VBD |
denotes |
affected |
T4149 |
22136-22141 |
PRP$ |
denotes |
their |
T4150 |
22142-22149 |
NN |
denotes |
ability |
T4151 |
22150-22152 |
TO |
denotes |
to |
T4152 |
22153-22163 |
VB |
denotes |
complement |
T4153 |
22164-22168 |
DT |
denotes |
some |
T4154 |
22169-22179 |
NNS |
denotes |
phenotypes |
T4155 |
22180-22181 |
-LRB- |
denotes |
( |
T4156 |
22181-22185 |
NN |
denotes |
hair |
T4157 |
22185-22186 |
-RRB- |
denotes |
) |
T4158 |
22186-22187 |
. |
denotes |
. |
T4159 |
22187-22350 |
sentence |
denotes |
An overview of the functional relationships between Xpd alleles, phenotypes, and the presumed underlying TFIIH function in mice and cells is presented in Table 2. |
T4160 |
22188-22190 |
DT |
denotes |
An |
T4161 |
22191-22199 |
NN |
denotes |
overview |
T4163 |
22200-22202 |
IN |
denotes |
of |
T4164 |
22203-22206 |
DT |
denotes |
the |
T4166 |
22207-22217 |
JJ |
denotes |
functional |
T4165 |
22218-22231 |
NNS |
denotes |
relationships |
T4167 |
22232-22239 |
IN |
denotes |
between |
T4168 |
22240-22243 |
NN |
denotes |
Xpd |
T4169 |
22244-22251 |
NNS |
denotes |
alleles |
T4170 |
22251-22253 |
, |
denotes |
, |
T4171 |
22253-22263 |
NNS |
denotes |
phenotypes |
T4172 |
22263-22265 |
, |
denotes |
, |
T4173 |
22265-22268 |
CC |
denotes |
and |
T4174 |
22269-22272 |
DT |
denotes |
the |
T4176 |
22273-22281 |
VBN |
denotes |
presumed |
T4177 |
22282-22292 |
VBG |
denotes |
underlying |
T4178 |
22293-22298 |
NN |
denotes |
TFIIH |
T4175 |
22299-22307 |
NN |
denotes |
function |
T4179 |
22308-22310 |
IN |
denotes |
in |
T4180 |
22311-22315 |
NNS |
denotes |
mice |
T4181 |
22316-22319 |
CC |
denotes |
and |
T4182 |
22320-22325 |
NNS |
denotes |
cells |
T4183 |
22326-22328 |
VBZ |
denotes |
is |
T4162 |
22329-22338 |
VBN |
denotes |
presented |
T4184 |
22339-22341 |
IN |
denotes |
in |
T4185 |
22342-22347 |
NN |
denotes |
Table |
T4186 |
22348-22349 |
CD |
denotes |
2 |
T4187 |
22349-22350 |
. |
denotes |
. |
T4259 |
22364-22374 |
NN |
denotes |
Dissection |
T4260 |
22375-22377 |
IN |
denotes |
of |
T4261 |
22378-22387 |
JJ |
denotes |
Biallelic |
T4262 |
22388-22395 |
NNS |
denotes |
Effects |
T4263 |
22396-22400 |
IN |
denotes |
from |
T4264 |
22401-22406 |
JJ |
denotes |
other |
T4265 |
22407-22419 |
NNS |
denotes |
Determinants |
T4266 |
22420-22422 |
IN |
denotes |
of |
T4267 |
22423-22432 |
NN |
denotes |
Phenotype |
T4268 |
22432-22724 |
sentence |
denotes |
Although phenotypic consequences, referred to here as biallelic effects, resulting from two different mutant alleles in compound heterozygote patients have been postulated, such effects have historically been difficult to distinguish from the influence of environment and genetic background. |
T4269 |
22433-22441 |
IN |
denotes |
Although |
T4271 |
22442-22452 |
JJ |
denotes |
phenotypic |
T4272 |
22453-22465 |
NNS |
denotes |
consequences |
T4273 |
22465-22467 |
, |
denotes |
, |
T4274 |
22467-22475 |
VBN |
denotes |
referred |
T4275 |
22476-22478 |
IN |
denotes |
to |
T4276 |
22479-22483 |
RB |
denotes |
here |
T4277 |
22484-22486 |
IN |
denotes |
as |
T4278 |
22487-22496 |
JJ |
denotes |
biallelic |
T4279 |
22497-22504 |
NNS |
denotes |
effects |
T4280 |
22504-22506 |
, |
denotes |
, |
T4281 |
22506-22515 |
VBG |
denotes |
resulting |
T4282 |
22516-22520 |
IN |
denotes |
from |
T4283 |
22521-22524 |
CD |
denotes |
two |
T4285 |
22525-22534 |
JJ |
denotes |
different |
T4286 |
22535-22541 |
JJ |
denotes |
mutant |
T4284 |
22542-22549 |
NNS |
denotes |
alleles |
T4287 |
22550-22552 |
IN |
denotes |
in |
T4288 |
22553-22561 |
NN |
denotes |
compound |
T4290 |
22562-22574 |
NN |
denotes |
heterozygote |
T4289 |
22575-22583 |
NNS |
denotes |
patients |
T4291 |
22584-22588 |
VBP |
denotes |
have |
T4292 |
22589-22593 |
VBN |
denotes |
been |
T4270 |
22594-22604 |
VBN |
denotes |
postulated |
T4294 |
22604-22606 |
, |
denotes |
, |
T4295 |
22606-22610 |
JJ |
denotes |
such |
T4296 |
22611-22618 |
NNS |
denotes |
effects |
T4297 |
22619-22623 |
VBP |
denotes |
have |
T4298 |
22624-22636 |
RB |
denotes |
historically |
T4293 |
22637-22641 |
VBN |
denotes |
been |
T4299 |
22642-22651 |
JJ |
denotes |
difficult |
T4300 |
22652-22654 |
TO |
denotes |
to |
T4301 |
22655-22666 |
VB |
denotes |
distinguish |
T4302 |
22667-22671 |
IN |
denotes |
from |
T4303 |
22672-22675 |
DT |
denotes |
the |
T4304 |
22676-22685 |
NN |
denotes |
influence |
T4305 |
22686-22688 |
IN |
denotes |
of |
T4306 |
22689-22700 |
NN |
denotes |
environment |
T4307 |
22701-22704 |
CC |
denotes |
and |
T4308 |
22705-22712 |
JJ |
denotes |
genetic |
T4309 |
22713-22723 |
NN |
denotes |
background |
T4310 |
22723-22724 |
. |
denotes |
. |
T4311 |
22724-22929 |
sentence |
denotes |
We used a genetically defined mammalian model system under controlled environmental conditions to reveal phenotypic effects attributable specifically to combinations of differentially mutated Xpd alleles. |
T4312 |
22725-22727 |
PRP |
denotes |
We |
T4313 |
22728-22732 |
VBD |
denotes |
used |
T4314 |
22733-22734 |
DT |
denotes |
a |
T4316 |
22735-22746 |
RB |
denotes |
genetically |
T4317 |
22747-22754 |
VBN |
denotes |
defined |
T4318 |
22755-22764 |
JJ |
denotes |
mammalian |
T4319 |
22765-22770 |
NN |
denotes |
model |
T4315 |
22771-22777 |
NN |
denotes |
system |
T4320 |
22778-22783 |
IN |
denotes |
under |
T4321 |
22784-22794 |
JJ |
denotes |
controlled |
T4323 |
22795-22808 |
JJ |
denotes |
environmental |
T4322 |
22809-22819 |
NNS |
denotes |
conditions |
T4324 |
22820-22822 |
TO |
denotes |
to |
T4325 |
22823-22829 |
VB |
denotes |
reveal |
T4326 |
22830-22840 |
JJ |
denotes |
phenotypic |
T4327 |
22841-22848 |
NNS |
denotes |
effects |
T4328 |
22849-22861 |
JJ |
denotes |
attributable |
T4329 |
22862-22874 |
RB |
denotes |
specifically |
T4330 |
22875-22877 |
IN |
denotes |
to |
T4331 |
22878-22890 |
NNS |
denotes |
combinations |
T4332 |
22891-22893 |
IN |
denotes |
of |
T4333 |
22894-22908 |
RB |
denotes |
differentially |
T4334 |
22909-22916 |
VBN |
denotes |
mutated |
T4336 |
22917-22920 |
NN |
denotes |
Xpd |
T4335 |
22921-22928 |
NNS |
denotes |
alleles |
T4337 |
22928-22929 |
. |
denotes |
. |
T4338 |
22929-22989 |
sentence |
denotes |
The observed biallelic effects were of three general types. |
T4339 |
22930-22933 |
DT |
denotes |
The |
T4341 |
22934-22942 |
VBN |
denotes |
observed |
T4342 |
22943-22952 |
JJ |
denotes |
biallelic |
T4340 |
22953-22960 |
NNS |
denotes |
effects |
T4343 |
22961-22965 |
VBD |
denotes |
were |
T4344 |
22966-22968 |
IN |
denotes |
of |
T4345 |
22969-22974 |
CD |
denotes |
three |
T4347 |
22975-22982 |
JJ |
denotes |
general |
T4346 |
22983-22988 |
NNS |
denotes |
types |
T4348 |
22988-22989 |
. |
denotes |
. |
T4349 |
22989-23177 |
sentence |
denotes |
In the first, the allele associated in a homozygous state with a phenotype closer to wt singularly determined the phenotypic outcome, a phenomenon widely known in human recessive disease. |
T4350 |
22990-22992 |
IN |
denotes |
In |
T4352 |
22993-22996 |
DT |
denotes |
the |
T4353 |
22997-23002 |
JJ |
denotes |
first |
T4354 |
23002-23004 |
, |
denotes |
, |
T4355 |
23004-23007 |
DT |
denotes |
the |
T4356 |
23008-23014 |
NN |
denotes |
allele |
T4357 |
23015-23025 |
VBN |
denotes |
associated |
T4358 |
23026-23028 |
IN |
denotes |
in |
T4359 |
23029-23030 |
DT |
denotes |
a |
T4361 |
23031-23041 |
JJ |
denotes |
homozygous |
T4360 |
23042-23047 |
NN |
denotes |
state |
T4362 |
23048-23052 |
IN |
denotes |
with |
T4363 |
23053-23054 |
DT |
denotes |
a |
T4364 |
23055-23064 |
NN |
denotes |
phenotype |
T4365 |
23065-23071 |
RBR |
denotes |
closer |
T4366 |
23072-23074 |
IN |
denotes |
to |
T4367 |
23075-23077 |
NN |
denotes |
wt |
T4368 |
23078-23088 |
RB |
denotes |
singularly |
T4351 |
23089-23099 |
VBN |
denotes |
determined |
T4369 |
23100-23103 |
DT |
denotes |
the |
T4371 |
23104-23114 |
JJ |
denotes |
phenotypic |
T4370 |
23115-23122 |
NN |
denotes |
outcome |
T4372 |
23122-23124 |
, |
denotes |
, |
T4373 |
23124-23125 |
DT |
denotes |
a |
T4374 |
23126-23136 |
NN |
denotes |
phenomenon |
T4375 |
23137-23143 |
RB |
denotes |
widely |
T4376 |
23144-23149 |
VBN |
denotes |
known |
T4377 |
23150-23152 |
IN |
denotes |
in |
T4378 |
23153-23158 |
JJ |
denotes |
human |
T4380 |
23159-23168 |
JJ |
denotes |
recessive |
T4379 |
23169-23176 |
NN |
denotes |
disease |
T4381 |
23176-23177 |
. |
denotes |
. |
T4382 |
23177-23308 |
sentence |
denotes |
Because these Xpd alleles functioned at or near wt levels with respect to a particular function, we call these effects “dominant”. |
T4383 |
23178-23185 |
IN |
denotes |
Because |
T4385 |
23186-23191 |
DT |
denotes |
these |
T4387 |
23192-23195 |
NN |
denotes |
Xpd |
T4386 |
23196-23203 |
NNS |
denotes |
alleles |
T4384 |
23204-23214 |
VBD |
denotes |
functioned |
T4389 |
23215-23217 |
IN |
denotes |
at |
T4390 |
23218-23220 |
CC |
denotes |
or |
T4391 |
23221-23225 |
IN |
denotes |
near |
T4392 |
23226-23228 |
NN |
denotes |
wt |
T4393 |
23229-23235 |
NNS |
denotes |
levels |
T4394 |
23236-23240 |
IN |
denotes |
with |
T4395 |
23241-23248 |
NN |
denotes |
respect |
T4396 |
23249-23251 |
IN |
denotes |
to |
T4397 |
23252-23253 |
DT |
denotes |
a |
T4399 |
23254-23264 |
JJ |
denotes |
particular |
T4398 |
23265-23273 |
NN |
denotes |
function |
T4400 |
23273-23275 |
, |
denotes |
, |
T4401 |
23275-23277 |
PRP |
denotes |
we |
T4388 |
23278-23282 |
VBP |
denotes |
call |
T4402 |
23283-23288 |
DT |
denotes |
these |
T4403 |
23289-23296 |
NNS |
denotes |
effects |
T4404 |
23297-23298 |
`` |
denotes |
“ |
T4405 |
23298-23306 |
JJ |
denotes |
dominant |
T4406 |
23306-23307 |
'' |
denotes |
” |
T4407 |
23307-23308 |
. |
denotes |
. |
T4408 |
23308-23477 |
sentence |
denotes |
Such alleles can also be referred to as “separation of function” alleles, because they allow dissection of the roles of multifunctional proteins in specific phenotypes. |
T4409 |
23309-23313 |
JJ |
denotes |
Such |
T4410 |
23314-23321 |
NNS |
denotes |
alleles |
T4412 |
23322-23325 |
MD |
denotes |
can |
T4413 |
23326-23330 |
RB |
denotes |
also |
T4414 |
23331-23333 |
VB |
denotes |
be |
T4411 |
23334-23342 |
VBN |
denotes |
referred |
T4415 |
23343-23345 |
IN |
denotes |
to |
T4416 |
23346-23348 |
IN |
denotes |
as |
T4417 |
23349-23350 |
`` |
denotes |
“ |
T4419 |
23350-23360 |
NN |
denotes |
separation |
T4420 |
23361-23363 |
IN |
denotes |
of |
T4421 |
23364-23372 |
NN |
denotes |
function |
T4422 |
23372-23373 |
'' |
denotes |
” |
T4418 |
23374-23381 |
NNS |
denotes |
alleles |
T4423 |
23381-23383 |
, |
denotes |
, |
T4424 |
23383-23390 |
IN |
denotes |
because |
T4426 |
23391-23395 |
PRP |
denotes |
they |
T4425 |
23396-23401 |
VBP |
denotes |
allow |
T4427 |
23402-23412 |
NN |
denotes |
dissection |
T4428 |
23413-23415 |
IN |
denotes |
of |
T4429 |
23416-23419 |
DT |
denotes |
the |
T4430 |
23420-23425 |
NNS |
denotes |
roles |
T4431 |
23426-23428 |
IN |
denotes |
of |
T4432 |
23429-23444 |
JJ |
denotes |
multifunctional |
T4433 |
23445-23453 |
NN |
denotes |
proteins |
T4434 |
23454-23456 |
IN |
denotes |
in |
T4435 |
23457-23465 |
JJ |
denotes |
specific |
T4436 |
23466-23476 |
NNS |
denotes |
phenotypes |
T4437 |
23476-23477 |
. |
denotes |
. |
T4438 |
23477-23854 |
sentence |
denotes |
Secondly, highlighting the potential relevance of current findings to all diploid organisms including humans was the observation that in one compound heterozygous animal, the Xpd allelic relationship could shift from A dominant |a recessive to A recessive |a dominant with respect to different phenotypes in a time-dependent and tissue-specific manner (see below and Table 2). |
T4439 |
23478-23486 |
RB |
denotes |
Secondly |
T4441 |
23486-23488 |
, |
denotes |
, |
T4442 |
23488-23500 |
VBG |
denotes |
highlighting |
T4443 |
23501-23504 |
DT |
denotes |
the |
T4445 |
23505-23514 |
JJ |
denotes |
potential |
T4444 |
23515-23524 |
NN |
denotes |
relevance |
T4446 |
23525-23527 |
IN |
denotes |
of |
T4447 |
23528-23535 |
JJ |
denotes |
current |
T4448 |
23536-23544 |
NNS |
denotes |
findings |
T4449 |
23545-23547 |
IN |
denotes |
to |
T4450 |
23548-23551 |
DT |
denotes |
all |
T4452 |
23552-23559 |
JJ |
denotes |
diploid |
T4451 |
23560-23569 |
NNS |
denotes |
organisms |
T4453 |
23570-23579 |
VBG |
denotes |
including |
T4454 |
23580-23586 |
NNS |
denotes |
humans |
T4440 |
23587-23590 |
VBD |
denotes |
was |
T4455 |
23591-23594 |
DT |
denotes |
the |
T4456 |
23595-23606 |
NN |
denotes |
observation |
T4457 |
23607-23611 |
IN |
denotes |
that |
T4459 |
23612-23614 |
IN |
denotes |
in |
T4460 |
23615-23618 |
CD |
denotes |
one |
T4462 |
23619-23627 |
NN |
denotes |
compound |
T4463 |
23628-23640 |
JJ |
denotes |
heterozygous |
T4461 |
23641-23647 |
NN |
denotes |
animal |
T4464 |
23647-23649 |
, |
denotes |
, |
T4465 |
23649-23652 |
DT |
denotes |
the |
T4467 |
23653-23656 |
NN |
denotes |
Xpd |
T4468 |
23657-23664 |
JJ |
denotes |
allelic |
T4466 |
23665-23677 |
NN |
denotes |
relationship |
T4469 |
23678-23683 |
MD |
denotes |
could |
T4458 |
23684-23689 |
VB |
denotes |
shift |
T4470 |
23690-23694 |
IN |
denotes |
from |
T4471 |
23695-23705 |
JJ |
denotes |
A dominant |
T4473 |
23706-23707 |
HYPH |
denotes |
| |
T4472 |
23707-23718 |
JJ |
denotes |
a recessive |
T4474 |
23719-23721 |
IN |
denotes |
to |
T4475 |
23722-23733 |
JJ |
denotes |
A recessive |
T4477 |
23734-23735 |
HYPH |
denotes |
| |
T4476 |
23735-23745 |
JJ |
denotes |
a dominant |
T4478 |
23746-23750 |
IN |
denotes |
with |
T4479 |
23751-23758 |
NN |
denotes |
respect |
T4480 |
23759-23761 |
IN |
denotes |
to |
T4481 |
23762-23771 |
JJ |
denotes |
different |
T4482 |
23772-23782 |
NNS |
denotes |
phenotypes |
T4483 |
23783-23785 |
IN |
denotes |
in |
T4484 |
23786-23787 |
DT |
denotes |
a |
T4486 |
23788-23792 |
NN |
denotes |
time |
T4488 |
23792-23793 |
HYPH |
denotes |
- |
T4487 |
23793-23802 |
JJ |
denotes |
dependent |
T4489 |
23803-23806 |
CC |
denotes |
and |
T4490 |
23807-23813 |
NN |
denotes |
tissue |
T4492 |
23813-23814 |
HYPH |
denotes |
- |
T4491 |
23814-23822 |
JJ |
denotes |
specific |
T4485 |
23823-23829 |
NN |
denotes |
manner |
T4493 |
23830-23831 |
-LRB- |
denotes |
( |
T4494 |
23831-23834 |
VB |
denotes |
see |
T4495 |
23835-23840 |
RB |
denotes |
below |
T4497 |
23841-23844 |
CC |
denotes |
and |
T4496 |
23845-23850 |
NN |
denotes |
Table |
T4498 |
23851-23852 |
CD |
denotes |
2 |
T4499 |
23852-23853 |
-RRB- |
denotes |
) |
T4500 |
23853-23854 |
. |
denotes |
. |
T4501 |
23854-24041 |
sentence |
denotes |
In the third type of biallelic effect, known as interallelic complementation, two mutant alleles produced a phenotype closer to wt than either could alone in a homo- or hemizygous state. |
T4502 |
23855-23857 |
IN |
denotes |
In |
T4504 |
23858-23861 |
DT |
denotes |
the |
T4506 |
23862-23867 |
JJ |
denotes |
third |
T4505 |
23868-23872 |
NN |
denotes |
type |
T4507 |
23873-23875 |
IN |
denotes |
of |
T4508 |
23876-23885 |
JJ |
denotes |
biallelic |
T4509 |
23886-23892 |
NN |
denotes |
effect |
T4510 |
23892-23894 |
, |
denotes |
, |
T4511 |
23894-23899 |
VBN |
denotes |
known |
T4512 |
23900-23902 |
IN |
denotes |
as |
T4513 |
23903-23915 |
JJ |
denotes |
interallelic |
T4514 |
23916-23931 |
NN |
denotes |
complementation |
T4515 |
23931-23933 |
, |
denotes |
, |
T4516 |
23933-23936 |
CD |
denotes |
two |
T4518 |
23937-23943 |
JJ |
denotes |
mutant |
T4517 |
23944-23951 |
NNS |
denotes |
alleles |
T4503 |
23952-23960 |
VBD |
denotes |
produced |
T4519 |
23961-23962 |
DT |
denotes |
a |
T4520 |
23963-23972 |
NN |
denotes |
phenotype |
T4521 |
23973-23979 |
RBR |
denotes |
closer |
T4522 |
23980-23982 |
IN |
denotes |
to |
T4523 |
23983-23985 |
NN |
denotes |
wt |
T4524 |
23986-23990 |
IN |
denotes |
than |
T4526 |
23991-23997 |
DT |
denotes |
either |
T4527 |
23998-24003 |
MD |
denotes |
could |
T4525 |
24004-24009 |
RB |
denotes |
alone |
T4528 |
24010-24012 |
IN |
denotes |
in |
T4529 |
24013-24014 |
DT |
denotes |
a |
T4531 |
24015-24019 |
AFX |
denotes |
homo |
T4533 |
24019-24020 |
HYPH |
denotes |
- |
T4534 |
24021-24023 |
CC |
denotes |
or |
T4532 |
24024-24034 |
JJ |
denotes |
hemizygous |
T4530 |
24035-24040 |
NN |
denotes |
state |
T4535 |
24040-24041 |
. |
denotes |
. |
T4536 |
24041-24216 |
sentence |
denotes |
As summarised in Table 2, examples of all types of biallelic effects were observed in a variety of Xpd-associated phenotypes, ranging from brittle hair to segmental progeria. |
T4537 |
24042-24044 |
IN |
denotes |
As |
T4538 |
24045-24055 |
VBN |
denotes |
summarised |
T4540 |
24056-24058 |
IN |
denotes |
in |
T4541 |
24059-24064 |
NN |
denotes |
Table |
T4542 |
24065-24066 |
CD |
denotes |
2 |
T4543 |
24066-24068 |
, |
denotes |
, |
T4544 |
24068-24076 |
NNS |
denotes |
examples |
T4545 |
24077-24079 |
IN |
denotes |
of |
T4546 |
24080-24083 |
DT |
denotes |
all |
T4547 |
24084-24089 |
NNS |
denotes |
types |
T4548 |
24090-24092 |
IN |
denotes |
of |
T4549 |
24093-24102 |
JJ |
denotes |
biallelic |
T4550 |
24103-24110 |
NNS |
denotes |
effects |
T4551 |
24111-24115 |
VBD |
denotes |
were |
T4539 |
24116-24124 |
VBN |
denotes |
observed |
T4552 |
24125-24127 |
IN |
denotes |
in |
T4553 |
24128-24129 |
DT |
denotes |
a |
T4554 |
24130-24137 |
NN |
denotes |
variety |
T4555 |
24138-24140 |
IN |
denotes |
of |
T4556 |
24141-24144 |
NN |
denotes |
Xpd |
T4558 |
24144-24145 |
HYPH |
denotes |
- |
T4557 |
24145-24155 |
VBN |
denotes |
associated |
T4559 |
24156-24166 |
NNS |
denotes |
phenotypes |
T4560 |
24166-24168 |
, |
denotes |
, |
T4561 |
24168-24175 |
VBG |
denotes |
ranging |
T4562 |
24176-24180 |
IN |
denotes |
from |
T4563 |
24181-24188 |
JJ |
denotes |
brittle |
T4564 |
24189-24193 |
NN |
denotes |
hair |
T4565 |
24194-24196 |
IN |
denotes |
to |
T4566 |
24197-24206 |
JJ |
denotes |
segmental |
T4567 |
24207-24215 |
NN |
denotes |
progeria |
T4568 |
24215-24216 |
. |
denotes |
. |
T4805 |
24218-24223 |
NN |
denotes |
TFIIH |
T4806 |
24224-24226 |
IN |
denotes |
in |
T4807 |
24227-24240 |
NN |
denotes |
Transcription |
T4808 |
24241-24244 |
CC |
denotes |
and |
T4809 |
24245-24251 |
NN |
denotes |
Repair |
T4810 |
24251-24253 |
: |
denotes |
: |
T4811 |
24253-24263 |
NNS |
denotes |
Mechanisms |
T4812 |
24264-24266 |
IN |
denotes |
of |
T4813 |
24267-24270 |
NN |
denotes |
XPD |
T4815 |
24271-24278 |
NN |
denotes |
Disease |
T4814 |
24279-24289 |
NN |
denotes |
Pleiotropy |
T4816 |
24289-24579 |
sentence |
denotes |
We observed differences in the ability of XpdTTD versus homozygous lethal Xpd†XPCS and Xpd†XP alleles to function in two transcription-related phenotypes separated in the organism by both time and space: embryonic lethality and terminal differentiation of enucleating skin and blood cells. |
T4817 |
24290-24292 |
PRP |
denotes |
We |
T4818 |
24293-24301 |
VBD |
denotes |
observed |
T4819 |
24302-24313 |
NNS |
denotes |
differences |
T4820 |
24314-24316 |
IN |
denotes |
in |
T4821 |
24317-24320 |
DT |
denotes |
the |
T4822 |
24321-24328 |
NN |
denotes |
ability |
T4823 |
24329-24331 |
IN |
denotes |
of |
T4824 |
24332-24338 |
NN |
denotes |
XpdTTD |
T4825 |
24339-24345 |
CC |
denotes |
versus |
T4826 |
24346-24356 |
JJ |
denotes |
homozygous |
T4828 |
24357-24363 |
JJ |
denotes |
lethal |
T4829 |
24364-24372 |
NN |
denotes |
Xpd†XPCS |
T4830 |
24373-24376 |
CC |
denotes |
and |
T4831 |
24377-24383 |
NN |
denotes |
Xpd†XP |
T4827 |
24384-24391 |
NNS |
denotes |
alleles |
T4832 |
24392-24394 |
TO |
denotes |
to |
T4833 |
24395-24403 |
VB |
denotes |
function |
T4834 |
24404-24406 |
IN |
denotes |
in |
T4835 |
24407-24410 |
CD |
denotes |
two |
T4837 |
24411-24424 |
NN |
denotes |
transcription |
T4839 |
24424-24425 |
HYPH |
denotes |
- |
T4838 |
24425-24432 |
VBN |
denotes |
related |
T4836 |
24433-24443 |
NNS |
denotes |
phenotypes |
T4840 |
24444-24453 |
VBN |
denotes |
separated |
T4841 |
24454-24456 |
IN |
denotes |
in |
T4842 |
24457-24460 |
DT |
denotes |
the |
T4843 |
24461-24469 |
NN |
denotes |
organism |
T4844 |
24470-24472 |
IN |
denotes |
by |
T4845 |
24473-24477 |
CC |
denotes |
both |
T4846 |
24478-24482 |
NN |
denotes |
time |
T4847 |
24483-24486 |
CC |
denotes |
and |
T4848 |
24487-24492 |
NN |
denotes |
space |
T4849 |
24492-24494 |
: |
denotes |
: |
T4850 |
24494-24503 |
JJ |
denotes |
embryonic |
T4851 |
24504-24513 |
NN |
denotes |
lethality |
T4852 |
24514-24517 |
CC |
denotes |
and |
T4853 |
24518-24526 |
JJ |
denotes |
terminal |
T4854 |
24527-24542 |
NN |
denotes |
differentiation |
T4855 |
24543-24545 |
IN |
denotes |
of |
T4856 |
24546-24557 |
VBG |
denotes |
enucleating |
T4857 |
24558-24562 |
NN |
denotes |
skin |
T4858 |
24563-24566 |
CC |
denotes |
and |
T4859 |
24567-24572 |
NN |
denotes |
blood |
T4860 |
24573-24578 |
NNS |
denotes |
cells |
T4861 |
24578-24579 |
. |
denotes |
. |
T4862 |
24579-24759 |
sentence |
denotes |
The preblastocyst-stage homozygous lethality shared by the XpdKO, Xpd†XPCS, and Xpd†XP alleles most likely reflects a defect in basal transcription that is incompatible with life. |
T4863 |
24580-24583 |
DT |
denotes |
The |
T4865 |
24584-24597 |
NN |
denotes |
preblastocyst |
T4867 |
24597-24598 |
HYPH |
denotes |
- |
T4866 |
24598-24603 |
NN |
denotes |
stage |
T4868 |
24604-24614 |
JJ |
denotes |
homozygous |
T4864 |
24615-24624 |
NN |
denotes |
lethality |
T4870 |
24625-24631 |
VBN |
denotes |
shared |
T4871 |
24632-24634 |
IN |
denotes |
by |
T4872 |
24635-24638 |
DT |
denotes |
the |
T4874 |
24639-24644 |
NN |
denotes |
XpdKO |
T4875 |
24644-24646 |
, |
denotes |
, |
T4876 |
24646-24654 |
NN |
denotes |
Xpd†XPCS |
T4877 |
24654-24656 |
, |
denotes |
, |
T4878 |
24656-24659 |
CC |
denotes |
and |
T4879 |
24660-24666 |
NN |
denotes |
Xpd†XP |
T4873 |
24667-24674 |
NNS |
denotes |
alleles |
T4880 |
24675-24679 |
RBS |
denotes |
most |
T4881 |
24680-24686 |
RB |
denotes |
likely |
T4869 |
24687-24695 |
VBZ |
denotes |
reflects |
T4882 |
24696-24697 |
DT |
denotes |
a |
T4883 |
24698-24704 |
NN |
denotes |
defect |
T4884 |
24705-24707 |
IN |
denotes |
in |
T4885 |
24708-24713 |
JJ |
denotes |
basal |
T4886 |
24714-24727 |
NN |
denotes |
transcription |
T4887 |
24728-24732 |
WDT |
denotes |
that |
T4888 |
24733-24735 |
VBZ |
denotes |
is |
T4889 |
24736-24748 |
JJ |
denotes |
incompatible |
T4890 |
24749-24753 |
IN |
denotes |
with |
T4891 |
24754-24758 |
NN |
denotes |
life |
T4892 |
24758-24759 |
. |
denotes |
. |
T4893 |
24759-24880 |
sentence |
denotes |
In XpdTTD/ †XPCS and XpdTTD/ †XP compound heterozygous mice, embryonic lethality was fully rescued by the XpdTTD allele. |
T4894 |
24760-24762 |
IN |
denotes |
In |
T4896 |
24763-24769 |
NN |
denotes |
XpdTTD |
T4898 |
24769-24770 |
HYPH |
denotes |
/ |
T4897 |
24770-24776 |
NN |
denotes |
†XPCS |
T4900 |
24777-24780 |
CC |
denotes |
and |
T4901 |
24781-24787 |
NN |
denotes |
XpdTTD |
T4903 |
24787-24788 |
HYPH |
denotes |
/ |
T4902 |
24788-24792 |
NN |
denotes |
†XP |
T4904 |
24793-24801 |
NN |
denotes |
compound |
T4905 |
24802-24814 |
JJ |
denotes |
heterozygous |
T4899 |
24815-24819 |
NNS |
denotes |
mice |
T4906 |
24819-24821 |
, |
denotes |
, |
T4907 |
24821-24830 |
JJ |
denotes |
embryonic |
T4908 |
24831-24840 |
NN |
denotes |
lethality |
T4909 |
24841-24844 |
VBD |
denotes |
was |
T4910 |
24845-24850 |
RB |
denotes |
fully |
T4895 |
24851-24858 |
VBN |
denotes |
rescued |
T4911 |
24859-24861 |
IN |
denotes |
by |
T4912 |
24862-24865 |
DT |
denotes |
the |
T4914 |
24866-24872 |
NN |
denotes |
XpdTTD |
T4913 |
24873-24879 |
NN |
denotes |
allele |
T4915 |
24879-24880 |
. |
denotes |
. |
T4916 |
24880-25145 |
sentence |
denotes |
Because embryonic lethality was also fully rescued in XpdTTD/KO hemizygous mice, the XpdTTD allele can be considered as wt and thus dominant to each of the homozygous lethal alleles (XpdKO, Xpd†XPCS, and Xpd†XP) with respect to this particular phenotype (Table 2). |
T4917 |
24881-24888 |
IN |
denotes |
Because |
T4919 |
24889-24898 |
JJ |
denotes |
embryonic |
T4920 |
24899-24908 |
NN |
denotes |
lethality |
T4921 |
24909-24912 |
VBD |
denotes |
was |
T4922 |
24913-24917 |
RB |
denotes |
also |
T4923 |
24918-24923 |
RB |
denotes |
fully |
T4918 |
24924-24931 |
VBN |
denotes |
rescued |
T4925 |
24932-24934 |
IN |
denotes |
in |
T4926 |
24935-24941 |
NN |
denotes |
XpdTTD |
T4928 |
24941-24942 |
HYPH |
denotes |
/ |
T4927 |
24942-24944 |
NN |
denotes |
KO |
T4930 |
24945-24955 |
JJ |
denotes |
hemizygous |
T4929 |
24956-24960 |
NNS |
denotes |
mice |
T4931 |
24960-24962 |
, |
denotes |
, |
T4932 |
24962-24965 |
DT |
denotes |
the |
T4934 |
24966-24972 |
NN |
denotes |
XpdTTD |
T4933 |
24973-24979 |
NN |
denotes |
allele |
T4935 |
24980-24983 |
MD |
denotes |
can |
T4936 |
24984-24986 |
VB |
denotes |
be |
T4924 |
24987-24997 |
VBN |
denotes |
considered |
T4937 |
24998-25000 |
IN |
denotes |
as |
T4938 |
25001-25003 |
NN |
denotes |
wt |
T4939 |
25004-25007 |
CC |
denotes |
and |
T4940 |
25008-25012 |
RB |
denotes |
thus |
T4941 |
25013-25021 |
JJ |
denotes |
dominant |
T4942 |
25022-25024 |
IN |
denotes |
to |
T4943 |
25025-25029 |
DT |
denotes |
each |
T4944 |
25030-25032 |
IN |
denotes |
of |
T4945 |
25033-25036 |
DT |
denotes |
the |
T4947 |
25037-25047 |
JJ |
denotes |
homozygous |
T4948 |
25048-25054 |
JJ |
denotes |
lethal |
T4946 |
25055-25062 |
NNS |
denotes |
alleles |
T4949 |
25063-25064 |
-LRB- |
denotes |
( |
T4950 |
25064-25069 |
NN |
denotes |
XpdKO |
T4951 |
25069-25071 |
, |
denotes |
, |
T4952 |
25071-25079 |
NN |
denotes |
Xpd†XPCS |
T4953 |
25079-25081 |
, |
denotes |
, |
T4954 |
25081-25084 |
CC |
denotes |
and |
T4955 |
25085-25091 |
NN |
denotes |
Xpd†XP |
T4956 |
25091-25092 |
-RRB- |
denotes |
) |
T4957 |
25093-25097 |
IN |
denotes |
with |
T4958 |
25098-25105 |
NN |
denotes |
respect |
T4959 |
25106-25108 |
IN |
denotes |
to |
T4960 |
25109-25113 |
DT |
denotes |
this |
T4962 |
25114-25124 |
JJ |
denotes |
particular |
T4961 |
25125-25134 |
NN |
denotes |
phenotype |
T4963 |
25135-25136 |
-LRB- |
denotes |
( |
T4964 |
25136-25141 |
NN |
denotes |
Table |
T4965 |
25142-25143 |
CD |
denotes |
2 |
T4966 |
25143-25144 |
-RRB- |
denotes |
) |
T4967 |
25144-25145 |
. |
denotes |
. |
T4968 |
25145-25405 |
sentence |
denotes |
TTD-specific cutaneous and anaemic features, on the other hand, are thought to result from a specific kind of transcriptional insufficiency caused by depletion of unstable TFIIH during the terminal differentiation of skin, hair-shaft, and blood cells [16,24]. |
T4969 |
25146-25149 |
NN |
denotes |
TTD |
T4971 |
25149-25150 |
HYPH |
denotes |
- |
T4970 |
25150-25158 |
JJ |
denotes |
specific |
T4973 |
25159-25168 |
JJ |
denotes |
cutaneous |
T4974 |
25169-25172 |
CC |
denotes |
and |
T4975 |
25173-25180 |
JJ |
denotes |
anaemic |
T4972 |
25181-25189 |
NNS |
denotes |
features |
T4977 |
25189-25191 |
, |
denotes |
, |
T4978 |
25191-25193 |
IN |
denotes |
on |
T4979 |
25194-25197 |
DT |
denotes |
the |
T4981 |
25198-25203 |
JJ |
denotes |
other |
T4980 |
25204-25208 |
NN |
denotes |
hand |
T4982 |
25208-25210 |
, |
denotes |
, |
T4983 |
25210-25213 |
VBP |
denotes |
are |
T4976 |
25214-25221 |
VBN |
denotes |
thought |
T4984 |
25222-25224 |
TO |
denotes |
to |
T4985 |
25225-25231 |
VB |
denotes |
result |
T4986 |
25232-25236 |
IN |
denotes |
from |
T4987 |
25237-25238 |
DT |
denotes |
a |
T4989 |
25239-25247 |
JJ |
denotes |
specific |
T4988 |
25248-25252 |
NN |
denotes |
kind |
T4990 |
25253-25255 |
IN |
denotes |
of |
T4991 |
25256-25271 |
JJ |
denotes |
transcriptional |
T4992 |
25272-25285 |
NN |
denotes |
insufficiency |
T4993 |
25286-25292 |
VBN |
denotes |
caused |
T4994 |
25293-25295 |
IN |
denotes |
by |
T4995 |
25296-25305 |
NN |
denotes |
depletion |
T4996 |
25306-25308 |
IN |
denotes |
of |
T4997 |
25309-25317 |
JJ |
denotes |
unstable |
T4998 |
25318-25323 |
NN |
denotes |
TFIIH |
T4999 |
25324-25330 |
IN |
denotes |
during |
T5000 |
25331-25334 |
DT |
denotes |
the |
T5002 |
25335-25343 |
JJ |
denotes |
terminal |
T5001 |
25344-25359 |
NN |
denotes |
differentiation |
T5003 |
25360-25362 |
IN |
denotes |
of |
T5004 |
25363-25367 |
NN |
denotes |
skin |
T5006 |
25367-25369 |
, |
denotes |
, |
T5007 |
25369-25373 |
NN |
denotes |
hair |
T5009 |
25373-25374 |
HYPH |
denotes |
- |
T5008 |
25374-25379 |
NN |
denotes |
shaft |
T5010 |
25379-25381 |
, |
denotes |
, |
T5011 |
25381-25384 |
CC |
denotes |
and |
T5012 |
25385-25390 |
NN |
denotes |
blood |
T5005 |
25391-25396 |
NNS |
denotes |
cells |
T5013 |
25397-25398 |
-LRB- |
denotes |
[ |
T5015 |
25398-25400 |
CD |
denotes |
16 |
T5016 |
25400-25401 |
, |
denotes |
, |
T5014 |
25401-25403 |
CD |
denotes |
24 |
T5017 |
25403-25404 |
-RRB- |
denotes |
] |
T5018 |
25404-25405 |
. |
denotes |
. |
T5019 |
25405-25650 |
sentence |
denotes |
In compound heterozygous mice, both homozygous lethal Xpd†XPCS and Xpd†XP alleles were able to alleviate XpdTTD-specific cutaneous and anaemic features and can thus be defined as dominant over the XpdTTD allele with respect to these phenotypes. |
T5020 |
25406-25408 |
IN |
denotes |
In |
T5022 |
25409-25417 |
NN |
denotes |
compound |
T5024 |
25418-25430 |
JJ |
denotes |
heterozygous |
T5023 |
25431-25435 |
NNS |
denotes |
mice |
T5025 |
25435-25437 |
, |
denotes |
, |
T5026 |
25437-25441 |
DT |
denotes |
both |
T5028 |
25442-25452 |
JJ |
denotes |
homozygous |
T5029 |
25453-25459 |
JJ |
denotes |
lethal |
T5030 |
25460-25468 |
NN |
denotes |
Xpd†XPCS |
T5031 |
25469-25472 |
CC |
denotes |
and |
T5032 |
25473-25479 |
NN |
denotes |
Xpd†XP |
T5027 |
25480-25487 |
NNS |
denotes |
alleles |
T5021 |
25488-25492 |
VBD |
denotes |
were |
T5033 |
25493-25497 |
JJ |
denotes |
able |
T5034 |
25498-25500 |
TO |
denotes |
to |
T5035 |
25501-25510 |
VB |
denotes |
alleviate |
T5036 |
25511-25517 |
NN |
denotes |
XpdTTD |
T5038 |
25517-25518 |
HYPH |
denotes |
- |
T5037 |
25518-25526 |
JJ |
denotes |
specific |
T5040 |
25527-25536 |
JJ |
denotes |
cutaneous |
T5041 |
25537-25540 |
CC |
denotes |
and |
T5042 |
25541-25548 |
JJ |
denotes |
anaemic |
T5039 |
25549-25557 |
NNS |
denotes |
features |
T5043 |
25558-25561 |
CC |
denotes |
and |
T5044 |
25562-25565 |
MD |
denotes |
can |
T5046 |
25566-25570 |
RB |
denotes |
thus |
T5047 |
25571-25573 |
VB |
denotes |
be |
T5045 |
25574-25581 |
VBN |
denotes |
defined |
T5048 |
25582-25584 |
IN |
denotes |
as |
T5049 |
25585-25593 |
JJ |
denotes |
dominant |
T5050 |
25594-25598 |
IN |
denotes |
over |
T5051 |
25599-25602 |
DT |
denotes |
the |
T5053 |
25603-25609 |
NN |
denotes |
XpdTTD |
T5052 |
25610-25616 |
NN |
denotes |
allele |
T5054 |
25617-25621 |
IN |
denotes |
with |
T5055 |
25622-25629 |
NN |
denotes |
respect |
T5056 |
25630-25632 |
IN |
denotes |
to |
T5057 |
25633-25638 |
DT |
denotes |
these |
T5058 |
25639-25649 |
NNS |
denotes |
phenotypes |
T5059 |
25649-25650 |
. |
denotes |
. |
T5060 |
25650-25867 |
sentence |
denotes |
We conclude that the defects leading to embryonic lethality and aberrant terminal differentiation of the skin, hair, and blood represent two qualitatively and/or quantitatively different transcriptional deficiencies. |
T5061 |
25651-25653 |
PRP |
denotes |
We |
T5062 |
25654-25662 |
VBP |
denotes |
conclude |
T5063 |
25663-25667 |
IN |
denotes |
that |
T5065 |
25668-25671 |
DT |
denotes |
the |
T5066 |
25672-25679 |
NNS |
denotes |
defects |
T5067 |
25680-25687 |
VBG |
denotes |
leading |
T5068 |
25688-25690 |
IN |
denotes |
to |
T5069 |
25691-25700 |
JJ |
denotes |
embryonic |
T5070 |
25701-25710 |
NN |
denotes |
lethality |
T5071 |
25711-25714 |
CC |
denotes |
and |
T5072 |
25715-25723 |
JJ |
denotes |
aberrant |
T5074 |
25724-25732 |
JJ |
denotes |
terminal |
T5073 |
25733-25748 |
NN |
denotes |
differentiation |
T5075 |
25749-25751 |
IN |
denotes |
of |
T5076 |
25752-25755 |
DT |
denotes |
the |
T5077 |
25756-25760 |
NN |
denotes |
skin |
T5078 |
25760-25762 |
, |
denotes |
, |
T5079 |
25762-25766 |
NN |
denotes |
hair |
T5080 |
25766-25768 |
, |
denotes |
, |
T5081 |
25768-25771 |
CC |
denotes |
and |
T5082 |
25772-25777 |
NN |
denotes |
blood |
T5064 |
25778-25787 |
VBP |
denotes |
represent |
T5083 |
25788-25791 |
CD |
denotes |
two |
T5085 |
25792-25805 |
RB |
denotes |
qualitatively |
T5087 |
25806-25809 |
CC |
denotes |
and |
T5088 |
25809-25810 |
HYPH |
denotes |
/ |
T5089 |
25810-25812 |
CC |
denotes |
or |
T5090 |
25813-25827 |
RB |
denotes |
quantitatively |
T5086 |
25828-25837 |
JJ |
denotes |
different |
T5091 |
25838-25853 |
JJ |
denotes |
transcriptional |
T5084 |
25854-25866 |
NNS |
denotes |
deficiencies |
T5092 |
25866-25867 |
. |
denotes |
. |
T5093 |
25867-26058 |
sentence |
denotes |
During early embryonic development, XpdTTD is dominant over the Xpd†XPCS and Xpd†XP alleles, whereas later in the ontogenesis of skin, hair-shaft, and blood cells, the situation is reversed. |
T5094 |
25868-25874 |
IN |
denotes |
During |
T5096 |
25875-25880 |
JJ |
denotes |
early |
T5098 |
25881-25890 |
JJ |
denotes |
embryonic |
T5097 |
25891-25902 |
NN |
denotes |
development |
T5099 |
25902-25904 |
, |
denotes |
, |
T5100 |
25904-25910 |
NN |
denotes |
XpdTTD |
T5095 |
25911-25913 |
VBZ |
denotes |
is |
T5101 |
25914-25922 |
JJ |
denotes |
dominant |
T5102 |
25923-25927 |
IN |
denotes |
over |
T5103 |
25928-25931 |
DT |
denotes |
the |
T5105 |
25932-25940 |
NN |
denotes |
Xpd†XPCS |
T5106 |
25941-25944 |
CC |
denotes |
and |
T5107 |
25945-25951 |
NN |
denotes |
Xpd†XP |
T5104 |
25952-25959 |
NNS |
denotes |
alleles |
T5108 |
25959-25961 |
, |
denotes |
, |
T5109 |
25961-25968 |
IN |
denotes |
whereas |
T5111 |
25969-25974 |
RB |
denotes |
later |
T5112 |
25975-25977 |
IN |
denotes |
in |
T5113 |
25978-25981 |
DT |
denotes |
the |
T5114 |
25982-25993 |
NN |
denotes |
ontogenesis |
T5115 |
25994-25996 |
IN |
denotes |
of |
T5116 |
25997-26001 |
NN |
denotes |
skin |
T5117 |
26001-26003 |
, |
denotes |
, |
T5118 |
26003-26007 |
NN |
denotes |
hair |
T5120 |
26007-26008 |
HYPH |
denotes |
- |
T5119 |
26008-26013 |
NN |
denotes |
shaft |
T5121 |
26013-26015 |
, |
denotes |
, |
T5122 |
26015-26018 |
CC |
denotes |
and |
T5123 |
26019-26024 |
NN |
denotes |
blood |
T5124 |
26025-26030 |
NNS |
denotes |
cells |
T5125 |
26030-26032 |
, |
denotes |
, |
T5126 |
26032-26035 |
DT |
denotes |
the |
T5127 |
26036-26045 |
NN |
denotes |
situation |
T5128 |
26046-26048 |
VBZ |
denotes |
is |
T5110 |
26049-26057 |
VBN |
denotes |
reversed |
T5129 |
26057-26058 |
. |
denotes |
. |
T5130 |
26058-26301 |
sentence |
denotes |
In its role in the repair of UV photolesions, the Xpd†XPCS allele imparted a clear UV survival benefit over a single XpdTTD allele or two XpdXPCS alleles independent of expression levels, which is consistent with interallelic complementation. |
T5131 |
26059-26061 |
IN |
denotes |
In |
T5133 |
26062-26065 |
PRP$ |
denotes |
its |
T5134 |
26066-26070 |
NN |
denotes |
role |
T5135 |
26071-26073 |
IN |
denotes |
in |
T5136 |
26074-26077 |
DT |
denotes |
the |
T5137 |
26078-26084 |
NN |
denotes |
repair |
T5138 |
26085-26087 |
IN |
denotes |
of |
T5139 |
26088-26090 |
NN |
denotes |
UV |
T5140 |
26091-26103 |
NNS |
denotes |
photolesions |
T5141 |
26103-26105 |
, |
denotes |
, |
T5142 |
26105-26108 |
DT |
denotes |
the |
T5144 |
26109-26117 |
NN |
denotes |
Xpd†XPCS |
T5143 |
26118-26124 |
NN |
denotes |
allele |
T5132 |
26125-26133 |
VBD |
denotes |
imparted |
T5145 |
26134-26135 |
DT |
denotes |
a |
T5147 |
26136-26141 |
JJ |
denotes |
clear |
T5148 |
26142-26144 |
NN |
denotes |
UV |
T5149 |
26145-26153 |
NN |
denotes |
survival |
T5146 |
26154-26161 |
NN |
denotes |
benefit |
T5150 |
26162-26166 |
IN |
denotes |
over |
T5151 |
26167-26168 |
DT |
denotes |
a |
T5153 |
26169-26175 |
JJ |
denotes |
single |
T5154 |
26176-26182 |
NN |
denotes |
XpdTTD |
T5152 |
26183-26189 |
NN |
denotes |
allele |
T5155 |
26190-26192 |
CC |
denotes |
or |
T5156 |
26193-26196 |
CD |
denotes |
two |
T5158 |
26197-26204 |
NN |
denotes |
XpdXPCS |
T5157 |
26205-26212 |
NNS |
denotes |
alleles |
T5159 |
26213-26224 |
JJ |
denotes |
independent |
T5160 |
26225-26227 |
IN |
denotes |
of |
T5161 |
26228-26238 |
NN |
denotes |
expression |
T5162 |
26239-26245 |
NNS |
denotes |
levels |
T5163 |
26245-26247 |
, |
denotes |
, |
T5164 |
26247-26252 |
WDT |
denotes |
which |
T5165 |
26253-26255 |
VBZ |
denotes |
is |
T5166 |
26256-26266 |
JJ |
denotes |
consistent |
T5167 |
26267-26271 |
IN |
denotes |
with |
T5168 |
26272-26284 |
JJ |
denotes |
interallelic |
T5169 |
26285-26300 |
NN |
denotes |
complementation |
T5170 |
26300-26301 |
. |
denotes |
. |
T5171 |
26301-26521 |
sentence |
denotes |
However, the observation that no other cellular or biochemical UV-related parameters were improved in XpdTTD/ †XPCS argues against complementation of this repair activity in the rescue of TTD progeroid symptoms in vivo. |
T5172 |
26302-26309 |
RB |
denotes |
However |
T5174 |
26309-26311 |
, |
denotes |
, |
T5175 |
26311-26314 |
DT |
denotes |
the |
T5176 |
26315-26326 |
NN |
denotes |
observation |
T5177 |
26327-26331 |
IN |
denotes |
that |
T5179 |
26332-26334 |
DT |
denotes |
no |
T5181 |
26335-26340 |
JJ |
denotes |
other |
T5182 |
26341-26349 |
JJ |
denotes |
cellular |
T5183 |
26350-26352 |
CC |
denotes |
or |
T5184 |
26353-26364 |
JJ |
denotes |
biochemical |
T5185 |
26365-26367 |
NN |
denotes |
UV |
T5187 |
26367-26368 |
HYPH |
denotes |
- |
T5186 |
26368-26375 |
VBN |
denotes |
related |
T5180 |
26376-26386 |
NNS |
denotes |
parameters |
T5188 |
26387-26391 |
VBD |
denotes |
were |
T5178 |
26392-26400 |
VBN |
denotes |
improved |
T5189 |
26401-26403 |
IN |
denotes |
in |
T5190 |
26404-26410 |
NN |
denotes |
XpdTTD |
T5192 |
26410-26411 |
HYPH |
denotes |
/ |
T5191 |
26411-26417 |
NN |
denotes |
†XPCS |
T5173 |
26418-26424 |
VBZ |
denotes |
argues |
T5193 |
26425-26432 |
IN |
denotes |
against |
T5194 |
26433-26448 |
NN |
denotes |
complementation |
T5195 |
26449-26451 |
IN |
denotes |
of |
T5196 |
26452-26456 |
DT |
denotes |
this |
T5198 |
26457-26463 |
NN |
denotes |
repair |
T5197 |
26464-26472 |
NN |
denotes |
activity |
T5199 |
26473-26475 |
IN |
denotes |
in |
T5200 |
26476-26479 |
DT |
denotes |
the |
T5201 |
26480-26486 |
NN |
denotes |
rescue |
T5202 |
26487-26489 |
IN |
denotes |
of |
T5203 |
26490-26493 |
NN |
denotes |
TTD |
T5205 |
26494-26503 |
JJ |
denotes |
progeroid |
T5204 |
26504-26512 |
NNS |
denotes |
symptoms |
T5206 |
26513-26515 |
FW |
denotes |
in |
T5207 |
26516-26520 |
FW |
denotes |
vivo |
T5208 |
26520-26521 |
. |
denotes |
. |
T5295 |
26523-26535 |
JJ |
denotes |
Interallelic |
T5296 |
26536-26551 |
NN |
denotes |
Complementation |
T5297 |
26552-26555 |
CC |
denotes |
and |
T5298 |
26556-26559 |
NN |
denotes |
XPD |
T5299 |
26560-26568 |
NN |
denotes |
Function |
T5300 |
26568-26652 |
sentence |
denotes |
What does interallelic complementation tell us about the mechanism of XPD function? |
T5301 |
26569-26573 |
WP |
denotes |
What |
T5303 |
26574-26578 |
VBZ |
denotes |
does |
T5304 |
26579-26591 |
JJ |
denotes |
interallelic |
T5305 |
26592-26607 |
NN |
denotes |
complementation |
T5302 |
26608-26612 |
VB |
denotes |
tell |
T5306 |
26613-26615 |
PRP |
denotes |
us |
T5307 |
26616-26621 |
IN |
denotes |
about |
T5308 |
26622-26625 |
DT |
denotes |
the |
T5309 |
26626-26635 |
NN |
denotes |
mechanism |
T5310 |
26636-26638 |
IN |
denotes |
of |
T5311 |
26639-26642 |
NN |
denotes |
XPD |
T5312 |
26643-26651 |
NN |
denotes |
function |
T5313 |
26651-26652 |
. |
denotes |
? |
T5314 |
26652-26761 |
sentence |
denotes |
Interallelic complementation is most often observed in multimeric proteins with multiple functional domains. |
T5315 |
26653-26665 |
JJ |
denotes |
Interallelic |
T5316 |
26666-26681 |
NN |
denotes |
complementation |
T5318 |
26682-26684 |
VBZ |
denotes |
is |
T5319 |
26685-26689 |
RBS |
denotes |
most |
T5320 |
26690-26695 |
RB |
denotes |
often |
T5317 |
26696-26704 |
VBN |
denotes |
observed |
T5321 |
26705-26707 |
IN |
denotes |
in |
T5322 |
26708-26718 |
JJ |
denotes |
multimeric |
T5323 |
26719-26727 |
NN |
denotes |
proteins |
T5324 |
26728-26732 |
IN |
denotes |
with |
T5325 |
26733-26741 |
JJ |
denotes |
multiple |
T5327 |
26742-26752 |
JJ |
denotes |
functional |
T5326 |
26753-26760 |
NNS |
denotes |
domains |
T5328 |
26760-26761 |
. |
denotes |
. |
T5329 |
26761-26980 |
sentence |
denotes |
Unfortunately, the structure–function relationship between disease-causing mutations and XPD functional domains, including detailed structural information on XPD or even its stoichiometry within TFIIH, remains unknown. |
T5330 |
26762-26775 |
RB |
denotes |
Unfortunately |
T5332 |
26775-26777 |
, |
denotes |
, |
T5333 |
26777-26780 |
DT |
denotes |
the |
T5335 |
26781-26790 |
NN |
denotes |
structure |
T5337 |
26790-26791 |
HYPH |
denotes |
– |
T5336 |
26791-26799 |
NN |
denotes |
function |
T5334 |
26800-26812 |
NN |
denotes |
relationship |
T5338 |
26813-26820 |
IN |
denotes |
between |
T5339 |
26821-26828 |
NN |
denotes |
disease |
T5341 |
26828-26829 |
HYPH |
denotes |
- |
T5340 |
26829-26836 |
VBG |
denotes |
causing |
T5342 |
26837-26846 |
NNS |
denotes |
mutations |
T5343 |
26847-26850 |
CC |
denotes |
and |
T5344 |
26851-26854 |
NN |
denotes |
XPD |
T5346 |
26855-26865 |
JJ |
denotes |
functional |
T5345 |
26866-26873 |
NNS |
denotes |
domains |
T5347 |
26873-26875 |
, |
denotes |
, |
T5348 |
26875-26884 |
VBG |
denotes |
including |
T5349 |
26885-26893 |
JJ |
denotes |
detailed |
T5351 |
26894-26904 |
JJ |
denotes |
structural |
T5350 |
26905-26916 |
NN |
denotes |
information |
T5352 |
26917-26919 |
IN |
denotes |
on |
T5353 |
26920-26923 |
NN |
denotes |
XPD |
T5354 |
26924-26926 |
CC |
denotes |
or |
T5355 |
26927-26931 |
RB |
denotes |
even |
T5357 |
26932-26935 |
PRP$ |
denotes |
its |
T5356 |
26936-26949 |
NN |
denotes |
stoichiometry |
T5358 |
26950-26956 |
IN |
denotes |
within |
T5359 |
26957-26962 |
NN |
denotes |
TFIIH |
T5360 |
26962-26964 |
, |
denotes |
, |
T5331 |
26964-26971 |
VBZ |
denotes |
remains |
T5361 |
26972-26979 |
JJ |
denotes |
unknown |
T5362 |
26979-26980 |
. |
denotes |
. |
T5363 |
26980-27249 |
sentence |
denotes |
However, based on the ability of cell extracts that are defective in two different TFIIH components (XPD and XPB) to complement NER activity in vitro [26], it is likely that TFIIH (or its components) can either multimerise or exchange at least during the NER reaction. |
T5364 |
26981-26988 |
RB |
denotes |
However |
T5366 |
26988-26990 |
, |
denotes |
, |
T5367 |
26990-26995 |
VBN |
denotes |
based |
T5368 |
26996-26998 |
IN |
denotes |
on |
T5369 |
26999-27002 |
DT |
denotes |
the |
T5370 |
27003-27010 |
NN |
denotes |
ability |
T5371 |
27011-27013 |
IN |
denotes |
of |
T5372 |
27014-27018 |
NN |
denotes |
cell |
T5373 |
27019-27027 |
NNS |
denotes |
extracts |
T5374 |
27028-27032 |
WDT |
denotes |
that |
T5375 |
27033-27036 |
VBP |
denotes |
are |
T5376 |
27037-27046 |
JJ |
denotes |
defective |
T5377 |
27047-27049 |
IN |
denotes |
in |
T5378 |
27050-27053 |
CD |
denotes |
two |
T5380 |
27054-27063 |
JJ |
denotes |
different |
T5381 |
27064-27069 |
NN |
denotes |
TFIIH |
T5379 |
27070-27080 |
NNS |
denotes |
components |
T5382 |
27081-27082 |
-LRB- |
denotes |
( |
T5383 |
27082-27085 |
NN |
denotes |
XPD |
T5384 |
27086-27089 |
CC |
denotes |
and |
T5385 |
27090-27093 |
NN |
denotes |
XPB |
T5386 |
27093-27094 |
-RRB- |
denotes |
) |
T5387 |
27095-27097 |
TO |
denotes |
to |
T5388 |
27098-27108 |
VB |
denotes |
complement |
T5389 |
27109-27112 |
NN |
denotes |
NER |
T5390 |
27113-27121 |
NN |
denotes |
activity |
T5391 |
27122-27124 |
FW |
denotes |
in |
T5392 |
27125-27130 |
FW |
denotes |
vitro |
T5393 |
27131-27132 |
-LRB- |
denotes |
[ |
T5394 |
27132-27134 |
CD |
denotes |
26 |
T5395 |
27134-27135 |
-RRB- |
denotes |
] |
T5396 |
27135-27137 |
, |
denotes |
, |
T5397 |
27137-27139 |
PRP |
denotes |
it |
T5365 |
27140-27142 |
VBZ |
denotes |
is |
T5398 |
27143-27149 |
JJ |
denotes |
likely |
T5399 |
27150-27154 |
IN |
denotes |
that |
T5401 |
27155-27160 |
NN |
denotes |
TFIIH |
T5402 |
27161-27162 |
-LRB- |
denotes |
( |
T5403 |
27162-27164 |
CC |
denotes |
or |
T5404 |
27165-27168 |
PRP$ |
denotes |
its |
T5405 |
27169-27179 |
NNS |
denotes |
components |
T5406 |
27179-27180 |
-RRB- |
denotes |
) |
T5407 |
27181-27184 |
MD |
denotes |
can |
T5408 |
27185-27191 |
CC |
denotes |
either |
T5400 |
27192-27203 |
VB |
denotes |
multimerise |
T5409 |
27204-27206 |
CC |
denotes |
or |
T5410 |
27207-27215 |
VB |
denotes |
exchange |
T5411 |
27216-27218 |
RB |
denotes |
at |
T5412 |
27219-27224 |
RBS |
denotes |
least |
T5413 |
27225-27231 |
IN |
denotes |
during |
T5414 |
27232-27235 |
DT |
denotes |
the |
T5416 |
27236-27239 |
NN |
denotes |
NER |
T5415 |
27240-27248 |
NN |
denotes |
reaction |
T5417 |
27248-27249 |
. |
denotes |
. |
T5418 |
27249-27322 |
sentence |
denotes |
Furthermore, XPD is known to be a “loosely bound” subunit of TFIIH [27]. |
T5419 |
27250-27261 |
RB |
denotes |
Furthermore |
T5421 |
27261-27263 |
, |
denotes |
, |
T5422 |
27263-27266 |
NN |
denotes |
XPD |
T5423 |
27267-27269 |
VBZ |
denotes |
is |
T5420 |
27270-27275 |
VBN |
denotes |
known |
T5424 |
27276-27278 |
TO |
denotes |
to |
T5425 |
27279-27281 |
VB |
denotes |
be |
T5426 |
27282-27283 |
DT |
denotes |
a |
T5428 |
27284-27285 |
RB |
denotes |
“ |
T5429 |
27285-27292 |
RB |
denotes |
loosely |
T5430 |
27293-27298 |
VBN |
denotes |
bound |
T5431 |
27298-27299 |
'' |
denotes |
” |
T5427 |
27300-27307 |
NN |
denotes |
subunit |
T5432 |
27308-27310 |
IN |
denotes |
of |
T5433 |
27311-27316 |
NN |
denotes |
TFIIH |
T5434 |
27317-27318 |
-LRB- |
denotes |
[ |
T5435 |
27318-27320 |
CD |
denotes |
27 |
T5436 |
27320-27321 |
-RRB- |
denotes |
] |
T5437 |
27321-27322 |
. |
denotes |
. |
T5438 |
27322-27679 |
sentence |
denotes |
We thus envisage the molecular mechanism of interallelic complementation to involve the exchange of XPD molecules within the TFIIH complex or turnover of TFIIH complexes containing different XPD molecules at the site of DNA damage during the course of the global genome as well as transcription-coupled repair of either UV-induced or endogenous DNA damage. |
T5439 |
27323-27325 |
PRP |
denotes |
We |
T5441 |
27326-27330 |
RB |
denotes |
thus |
T5440 |
27331-27339 |
VBP |
denotes |
envisage |
T5442 |
27340-27343 |
DT |
denotes |
the |
T5444 |
27344-27353 |
JJ |
denotes |
molecular |
T5443 |
27354-27363 |
NN |
denotes |
mechanism |
T5446 |
27364-27366 |
IN |
denotes |
of |
T5447 |
27367-27379 |
JJ |
denotes |
interallelic |
T5448 |
27380-27395 |
NN |
denotes |
complementation |
T5449 |
27396-27398 |
TO |
denotes |
to |
T5445 |
27399-27406 |
VB |
denotes |
involve |
T5450 |
27407-27410 |
DT |
denotes |
the |
T5451 |
27411-27419 |
NN |
denotes |
exchange |
T5452 |
27420-27422 |
IN |
denotes |
of |
T5453 |
27423-27426 |
NN |
denotes |
XPD |
T5454 |
27427-27436 |
NNS |
denotes |
molecules |
T5455 |
27437-27443 |
IN |
denotes |
within |
T5456 |
27444-27447 |
DT |
denotes |
the |
T5458 |
27448-27453 |
NN |
denotes |
TFIIH |
T5457 |
27454-27461 |
NN |
denotes |
complex |
T5459 |
27462-27464 |
CC |
denotes |
or |
T5460 |
27465-27473 |
NN |
denotes |
turnover |
T5461 |
27474-27476 |
IN |
denotes |
of |
T5462 |
27477-27482 |
NN |
denotes |
TFIIH |
T5463 |
27483-27492 |
NNS |
denotes |
complexes |
T5464 |
27493-27503 |
VBG |
denotes |
containing |
T5465 |
27504-27513 |
JJ |
denotes |
different |
T5467 |
27514-27517 |
NN |
denotes |
XPD |
T5466 |
27518-27527 |
NNS |
denotes |
molecules |
T5468 |
27528-27530 |
IN |
denotes |
at |
T5469 |
27531-27534 |
DT |
denotes |
the |
T5470 |
27535-27539 |
NN |
denotes |
site |
T5471 |
27540-27542 |
IN |
denotes |
of |
T5472 |
27543-27546 |
NN |
denotes |
DNA |
T5473 |
27547-27553 |
NN |
denotes |
damage |
T5474 |
27554-27560 |
IN |
denotes |
during |
T5475 |
27561-27564 |
DT |
denotes |
the |
T5476 |
27565-27571 |
NN |
denotes |
course |
T5477 |
27572-27574 |
IN |
denotes |
of |
T5478 |
27575-27578 |
DT |
denotes |
the |
T5480 |
27579-27585 |
JJ |
denotes |
global |
T5479 |
27586-27592 |
NN |
denotes |
genome |
T5481 |
27593-27595 |
RB |
denotes |
as |
T5483 |
27596-27600 |
RB |
denotes |
well |
T5482 |
27601-27603 |
IN |
denotes |
as |
T5484 |
27604-27617 |
NN |
denotes |
transcription |
T5486 |
27617-27618 |
HYPH |
denotes |
- |
T5485 |
27618-27625 |
VBN |
denotes |
coupled |
T5487 |
27626-27632 |
NN |
denotes |
repair |
T5488 |
27633-27635 |
IN |
denotes |
of |
T5489 |
27636-27642 |
CC |
denotes |
either |
T5491 |
27643-27645 |
NN |
denotes |
UV |
T5493 |
27645-27646 |
HYPH |
denotes |
- |
T5492 |
27646-27653 |
VBN |
denotes |
induced |
T5494 |
27654-27656 |
CC |
denotes |
or |
T5495 |
27657-27667 |
JJ |
denotes |
endogenous |
T5496 |
27668-27671 |
NN |
denotes |
DNA |
T5490 |
27672-27678 |
NN |
denotes |
damage |
T5497 |
27678-27679 |
. |
denotes |
. |
T5607 |
27681-27682 |
DT |
denotes |
A |
T5609 |
27683-27692 |
JJ |
denotes |
Biallelic |
T5608 |
27693-27701 |
NN |
denotes |
Paradigm |
T5610 |
27702-27705 |
IN |
denotes |
for |
T5611 |
27706-27709 |
NN |
denotes |
XPD |
T5612 |
27710-27719 |
NNS |
denotes |
Disorders |
T5613 |
27719-28001 |
sentence |
denotes |
Recently, proteins originating from presumed null alleles were biochemically characterised as inactive in basal transcription [27], providing an explanation as to why these alleles failed to rescue lethality in haploid S. pombe with a null mutation in the XPD homologue rad15 [19]. |
T5614 |
27720-27728 |
RB |
denotes |
Recently |
T5616 |
27728-27730 |
, |
denotes |
, |
T5617 |
27730-27738 |
NN |
denotes |
proteins |
T5618 |
27739-27750 |
VBG |
denotes |
originating |
T5619 |
27751-27755 |
IN |
denotes |
from |
T5620 |
27756-27764 |
VBN |
denotes |
presumed |
T5622 |
27765-27769 |
JJ |
denotes |
null |
T5621 |
27770-27777 |
NNS |
denotes |
alleles |
T5623 |
27778-27782 |
VBD |
denotes |
were |
T5624 |
27783-27796 |
RB |
denotes |
biochemically |
T5615 |
27797-27810 |
VBN |
denotes |
characterised |
T5625 |
27811-27813 |
IN |
denotes |
as |
T5626 |
27814-27822 |
JJ |
denotes |
inactive |
T5627 |
27823-27825 |
IN |
denotes |
in |
T5628 |
27826-27831 |
JJ |
denotes |
basal |
T5629 |
27832-27845 |
NN |
denotes |
transcription |
T5630 |
27846-27847 |
-LRB- |
denotes |
[ |
T5631 |
27847-27849 |
CD |
denotes |
27 |
T5632 |
27849-27850 |
-RRB- |
denotes |
] |
T5633 |
27850-27852 |
, |
denotes |
, |
T5634 |
27852-27861 |
VBG |
denotes |
providing |
T5635 |
27862-27864 |
DT |
denotes |
an |
T5636 |
27865-27876 |
NN |
denotes |
explanation |
T5637 |
27877-27879 |
IN |
denotes |
as |
T5638 |
27880-27882 |
IN |
denotes |
to |
T5639 |
27883-27886 |
WRB |
denotes |
why |
T5641 |
27887-27892 |
DT |
denotes |
these |
T5642 |
27893-27900 |
NNS |
denotes |
alleles |
T5640 |
27901-27907 |
VBD |
denotes |
failed |
T5643 |
27908-27910 |
TO |
denotes |
to |
T5644 |
27911-27917 |
VB |
denotes |
rescue |
T5645 |
27918-27927 |
NN |
denotes |
lethality |
T5646 |
27928-27930 |
IN |
denotes |
in |
T5647 |
27931-27938 |
JJ |
denotes |
haploid |
T5649 |
27939-27941 |
FW |
denotes |
S. |
T5648 |
27942-27947 |
FW |
denotes |
pombe |
T5650 |
27948-27952 |
IN |
denotes |
with |
T5651 |
27953-27954 |
DT |
denotes |
a |
T5653 |
27955-27959 |
JJ |
denotes |
null |
T5652 |
27960-27968 |
NN |
denotes |
mutation |
T5654 |
27969-27971 |
IN |
denotes |
in |
T5655 |
27972-27975 |
DT |
denotes |
the |
T5657 |
27976-27979 |
NN |
denotes |
XPD |
T5656 |
27980-27989 |
NN |
denotes |
homologue |
T5658 |
27990-27995 |
NN |
denotes |
rad15 |
T5659 |
27996-27997 |
-LRB- |
denotes |
[ |
T5660 |
27997-27999 |
CD |
denotes |
19 |
T5661 |
27999-28000 |
-RRB- |
denotes |
] |
T5662 |
28000-28001 |
. |
denotes |
. |
T5663 |
28001-28233 |
sentence |
denotes |
Our data suggest that certain presumed null alleles, although unable on their own to support basal transcription, may in fact have a substantial impact on disease outcome in compound heterozygous humans, as they do in mouse models. |
T5664 |
28002-28005 |
PRP$ |
denotes |
Our |
T5665 |
28006-28010 |
NNS |
denotes |
data |
T5666 |
28011-28018 |
VBP |
denotes |
suggest |
T5667 |
28019-28023 |
IN |
denotes |
that |
T5669 |
28024-28031 |
JJ |
denotes |
certain |
T5671 |
28032-28040 |
VBN |
denotes |
presumed |
T5672 |
28041-28045 |
JJ |
denotes |
null |
T5670 |
28046-28053 |
NNS |
denotes |
alleles |
T5673 |
28053-28055 |
, |
denotes |
, |
T5674 |
28055-28063 |
IN |
denotes |
although |
T5675 |
28064-28070 |
JJ |
denotes |
unable |
T5676 |
28071-28073 |
IN |
denotes |
on |
T5678 |
28074-28079 |
PRP$ |
denotes |
their |
T5679 |
28080-28083 |
NN |
denotes |
own |
T5680 |
28084-28086 |
TO |
denotes |
to |
T5677 |
28087-28094 |
VB |
denotes |
support |
T5681 |
28095-28100 |
JJ |
denotes |
basal |
T5682 |
28101-28114 |
NN |
denotes |
transcription |
T5683 |
28114-28116 |
, |
denotes |
, |
T5684 |
28116-28119 |
MD |
denotes |
may |
T5685 |
28120-28122 |
IN |
denotes |
in |
T5686 |
28123-28127 |
NN |
denotes |
fact |
T5668 |
28128-28132 |
VB |
denotes |
have |
T5687 |
28133-28134 |
DT |
denotes |
a |
T5689 |
28135-28146 |
JJ |
denotes |
substantial |
T5688 |
28147-28153 |
NN |
denotes |
impact |
T5690 |
28154-28156 |
IN |
denotes |
on |
T5691 |
28157-28164 |
NN |
denotes |
disease |
T5692 |
28165-28172 |
NN |
denotes |
outcome |
T5693 |
28173-28175 |
IN |
denotes |
in |
T5694 |
28176-28184 |
NN |
denotes |
compound |
T5696 |
28185-28197 |
JJ |
denotes |
heterozygous |
T5695 |
28198-28204 |
NNS |
denotes |
humans |
T5697 |
28204-28206 |
, |
denotes |
, |
T5698 |
28206-28208 |
IN |
denotes |
as |
T5700 |
28209-28213 |
PRP |
denotes |
they |
T5701 |
28214-28216 |
VBP |
denotes |
do |
T5699 |
28217-28219 |
IN |
denotes |
in |
T5702 |
28220-28225 |
NN |
denotes |
mouse |
T5703 |
28226-28232 |
NNS |
denotes |
models |
T5704 |
28232-28233 |
. |
denotes |
. |
T5705 |
28233-28442 |
sentence |
denotes |
Clinical evidence in support of this hypothesis comes from a number of XP complementation group D patients that do not fit within the framework of the current monoallelic paradigm of XPD disorders (Figure 5). |
T5706 |
28234-28242 |
JJ |
denotes |
Clinical |
T5707 |
28243-28251 |
NN |
denotes |
evidence |
T5709 |
28252-28254 |
IN |
denotes |
in |
T5710 |
28255-28262 |
NN |
denotes |
support |
T5711 |
28263-28265 |
IN |
denotes |
of |
T5712 |
28266-28270 |
DT |
denotes |
this |
T5713 |
28271-28281 |
NN |
denotes |
hypothesis |
T5708 |
28282-28287 |
VBZ |
denotes |
comes |
T5714 |
28288-28292 |
IN |
denotes |
from |
T5715 |
28293-28294 |
DT |
denotes |
a |
T5716 |
28295-28301 |
NN |
denotes |
number |
T5717 |
28302-28304 |
IN |
denotes |
of |
T5718 |
28305-28307 |
NN |
denotes |
XP |
T5720 |
28308-28323 |
NN |
denotes |
complementation |
T5721 |
28324-28329 |
NN |
denotes |
group |
T5722 |
28330-28331 |
NN |
denotes |
D |
T5719 |
28332-28340 |
NNS |
denotes |
patients |
T5723 |
28341-28345 |
WDT |
denotes |
that |
T5725 |
28346-28348 |
VBP |
denotes |
do |
T5726 |
28349-28352 |
RB |
denotes |
not |
T5724 |
28353-28356 |
VB |
denotes |
fit |
T5727 |
28357-28363 |
IN |
denotes |
within |
T5728 |
28364-28367 |
DT |
denotes |
the |
T5729 |
28368-28377 |
NN |
denotes |
framework |
T5730 |
28378-28380 |
IN |
denotes |
of |
T5731 |
28381-28384 |
DT |
denotes |
the |
T5733 |
28385-28392 |
JJ |
denotes |
current |
T5734 |
28393-28404 |
JJ |
denotes |
monoallelic |
T5732 |
28405-28413 |
NN |
denotes |
paradigm |
T5735 |
28414-28416 |
IN |
denotes |
of |
T5736 |
28417-28420 |
NN |
denotes |
XPD |
T5737 |
28421-28430 |
NNS |
denotes |
disorders |
T5738 |
28431-28432 |
-LRB- |
denotes |
( |
T5739 |
28432-28438 |
NN |
denotes |
Figure |
T5740 |
28439-28440 |
CD |
denotes |
5 |
T5741 |
28440-28441 |
-RRB- |
denotes |
) |
T5742 |
28441-28442 |
. |
denotes |
. |
T5743 |
28442-28870 |
sentence |
denotes |
In contrast to two hemizygous XPDXPCS patients carrying the XPDG47R- or XPDR666W-encoding alleles who died of the disease before 2 y of age, two compound heterozygous XPDXPCS patients carrying the same XPDG47R- or XPDR666W-encoding alleles in addition to the presumed null XPDL461V+del716−730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication) (Figure 5). |
T5744 |
28443-28445 |
IN |
denotes |
In |
T5746 |
28446-28454 |
NN |
denotes |
contrast |
T5747 |
28455-28457 |
IN |
denotes |
to |
T5748 |
28458-28461 |
CD |
denotes |
two |
T5750 |
28462-28472 |
JJ |
denotes |
hemizygous |
T5751 |
28473-28480 |
NN |
denotes |
XPDXPCS |
T5749 |
28481-28489 |
NNS |
denotes |
patients |
T5752 |
28490-28498 |
VBG |
denotes |
carrying |
T5753 |
28499-28502 |
DT |
denotes |
the |
T5755 |
28503-28510 |
NN |
denotes |
XPDG47R |
T5757 |
28510-28511 |
HYPH |
denotes |
- |
T5758 |
28512-28514 |
CC |
denotes |
or |
T5759 |
28515-28523 |
NN |
denotes |
XPDR666W |
T5760 |
28523-28524 |
HYPH |
denotes |
- |
T5756 |
28524-28532 |
VBG |
denotes |
encoding |
T5754 |
28533-28540 |
NNS |
denotes |
alleles |
T5761 |
28541-28544 |
WP |
denotes |
who |
T5762 |
28545-28549 |
VBD |
denotes |
died |
T5763 |
28550-28552 |
IN |
denotes |
of |
T5764 |
28553-28556 |
DT |
denotes |
the |
T5765 |
28557-28564 |
NN |
denotes |
disease |
T5766 |
28565-28571 |
IN |
denotes |
before |
T5767 |
28572-28573 |
CD |
denotes |
2 |
T5768 |
28574-28575 |
NNS |
denotes |
y |
T5769 |
28576-28578 |
IN |
denotes |
of |
T5770 |
28579-28582 |
NN |
denotes |
age |
T5771 |
28582-28584 |
, |
denotes |
, |
T5772 |
28584-28587 |
CD |
denotes |
two |
T5774 |
28588-28596 |
JJ |
denotes |
compound |
T5775 |
28597-28609 |
JJ |
denotes |
heterozygous |
T5776 |
28610-28617 |
NN |
denotes |
XPDXPCS |
T5773 |
28618-28626 |
NNS |
denotes |
patients |
T5777 |
28627-28635 |
VBG |
denotes |
carrying |
T5778 |
28636-28639 |
DT |
denotes |
the |
T5780 |
28640-28644 |
JJ |
denotes |
same |
T5781 |
28645-28652 |
NN |
denotes |
XPDG47R |
T5783 |
28652-28653 |
HYPH |
denotes |
- |
T5784 |
28654-28656 |
CC |
denotes |
or |
T5785 |
28657-28665 |
NN |
denotes |
XPDR666W |
T5786 |
28665-28666 |
HYPH |
denotes |
- |
T5782 |
28666-28674 |
VBG |
denotes |
encoding |
T5779 |
28675-28682 |
NNS |
denotes |
alleles |
T5787 |
28683-28685 |
IN |
denotes |
in |
T5788 |
28686-28694 |
NN |
denotes |
addition |
T5789 |
28695-28697 |
IN |
denotes |
to |
T5790 |
28698-28701 |
DT |
denotes |
the |
T5792 |
28702-28710 |
VBN |
denotes |
presumed |
T5793 |
28711-28715 |
JJ |
denotes |
null |
T5794 |
28716-28724 |
NN |
denotes |
XPDL461V |
T5795 |
28724-28725 |
SYM |
denotes |
+ |
T5796 |
28725-28731 |
NN |
denotes |
del716 |
T5797 |
28731-28732 |
HYPH |
denotes |
− |
T5791 |
28732-28735 |
NN |
denotes |
730 |
T5798 |
28736-28740 |
DT |
denotes |
both |
T5745 |
28741-28744 |
VBD |
denotes |
had |
T5799 |
28745-28757 |
RB |
denotes |
considerably |
T5800 |
28758-28764 |
JJR |
denotes |
milder |
T5802 |
28765-28772 |
NN |
denotes |
disease |
T5801 |
28773-28781 |
NNS |
denotes |
symptoms |
T5803 |
28782-28785 |
CC |
denotes |
and |
T5804 |
28786-28794 |
VBD |
denotes |
survived |
T5805 |
28795-28799 |
JJR |
denotes |
more |
T5807 |
28800-28804 |
IN |
denotes |
than |
T5806 |
28805-28808 |
CD |
denotes |
ten |
T5808 |
28809-28814 |
NNS |
denotes |
times |
T5809 |
28815-28821 |
RBR |
denotes |
longer |
T5810 |
28822-28823 |
-LRB- |
denotes |
( |
T5811 |
28823-28825 |
NNP |
denotes |
A. |
T5812 |
28826-28833 |
NNP |
denotes |
Lehmann |
T5813 |
28833-28835 |
, |
denotes |
, |
T5814 |
28835-28843 |
JJ |
denotes |
personal |
T5815 |
28844-28857 |
NN |
denotes |
communication |
T5816 |
28857-28858 |
-RRB- |
denotes |
) |
T5817 |
28859-28860 |
-LRB- |
denotes |
( |
T5818 |
28860-28866 |
NN |
denotes |
Figure |
T5819 |
28867-28868 |
CD |
denotes |
5 |
T5820 |
28868-28869 |
-RRB- |
denotes |
) |
T5821 |
28869-28870 |
. |
denotes |
. |
T5822 |
28870-28985 |
sentence |
denotes |
Compound heterozygosity is also associated with the recently reported combination XP and TTD (XPTTD) syndrome [8]. |
T5823 |
28871-28879 |
NN |
denotes |
Compound |
T5824 |
28880-28894 |
NN |
denotes |
heterozygosity |
T5826 |
28895-28897 |
VBZ |
denotes |
is |
T5827 |
28898-28902 |
RB |
denotes |
also |
T5825 |
28903-28913 |
VBN |
denotes |
associated |
T5828 |
28914-28918 |
IN |
denotes |
with |
T5829 |
28919-28922 |
DT |
denotes |
the |
T5831 |
28923-28931 |
RB |
denotes |
recently |
T5832 |
28932-28940 |
VBN |
denotes |
reported |
T5833 |
28941-28952 |
NN |
denotes |
combination |
T5834 |
28953-28955 |
NN |
denotes |
XP |
T5835 |
28956-28959 |
CC |
denotes |
and |
T5836 |
28960-28963 |
NN |
denotes |
TTD |
T5837 |
28964-28965 |
-LRB- |
denotes |
( |
T5838 |
28965-28970 |
NN |
denotes |
XPTTD |
T5839 |
28970-28971 |
-RRB- |
denotes |
) |
T5830 |
28972-28980 |
NN |
denotes |
syndrome |
T5840 |
28981-28982 |
-LRB- |
denotes |
[ |
T5841 |
28982-28983 |
CD |
denotes |
8 |
T5842 |
28983-28984 |
-RRB- |
denotes |
] |
T5843 |
28984-28985 |
. |
denotes |
. |
T5844 |
28985-29130 |
sentence |
denotes |
Similar to the XpdTTD/†XPCS and XpdTTD/†XP mice described here, both patients with XPTTD described so far had intermediate hair cysteine values. |
T5845 |
28986-28993 |
JJ |
denotes |
Similar |
T5847 |
28994-28996 |
IN |
denotes |
to |
T5848 |
28997-29000 |
DT |
denotes |
the |
T5850 |
29001-29007 |
NN |
denotes |
XpdTTD |
T5852 |
29007-29008 |
HYPH |
denotes |
/ |
T5851 |
29008-29013 |
NN |
denotes |
†XPCS |
T5853 |
29014-29017 |
CC |
denotes |
and |
T5854 |
29018-29024 |
NN |
denotes |
XpdTTD |
T5856 |
29024-29025 |
HYPH |
denotes |
/ |
T5855 |
29025-29028 |
NN |
denotes |
†XP |
T5849 |
29029-29033 |
NNS |
denotes |
mice |
T5857 |
29034-29043 |
VBN |
denotes |
described |
T5858 |
29044-29048 |
RB |
denotes |
here |
T5859 |
29048-29050 |
, |
denotes |
, |
T5860 |
29050-29054 |
DT |
denotes |
both |
T5861 |
29055-29063 |
NNS |
denotes |
patients |
T5862 |
29064-29068 |
IN |
denotes |
with |
T5863 |
29069-29074 |
NN |
denotes |
XPTTD |
T5864 |
29075-29084 |
VBN |
denotes |
described |
T5865 |
29085-29087 |
RB |
denotes |
so |
T5866 |
29088-29091 |
RB |
denotes |
far |
T5846 |
29092-29095 |
VBD |
denotes |
had |
T5867 |
29096-29108 |
JJ |
denotes |
intermediate |
T5869 |
29109-29113 |
NN |
denotes |
hair |
T5870 |
29114-29122 |
NN |
denotes |
cysteine |
T5868 |
29123-29129 |
NNS |
denotes |
values |
T5871 |
29129-29130 |
. |
denotes |
. |
T5872 |
29130-29272 |
sentence |
denotes |
Furthermore, XPTTD patient XP38BR carried a “causative” TTD mutation in one allele and a novel point mutation encoding XPDL485P in the other. |
T5873 |
29131-29142 |
RB |
denotes |
Furthermore |
T5875 |
29142-29144 |
, |
denotes |
, |
T5876 |
29144-29149 |
NN |
denotes |
XPTTD |
T5878 |
29150-29157 |
NN |
denotes |
patient |
T5877 |
29158-29164 |
NN |
denotes |
XP38BR |
T5874 |
29165-29172 |
VBD |
denotes |
carried |
T5879 |
29173-29174 |
DT |
denotes |
a |
T5881 |
29175-29176 |
`` |
denotes |
“ |
T5882 |
29176-29185 |
JJ |
denotes |
causative |
T5883 |
29185-29186 |
'' |
denotes |
” |
T5884 |
29187-29190 |
NN |
denotes |
TTD |
T5880 |
29191-29199 |
NN |
denotes |
mutation |
T5885 |
29200-29202 |
IN |
denotes |
in |
T5886 |
29203-29206 |
CD |
denotes |
one |
T5887 |
29207-29213 |
NN |
denotes |
allele |
T5888 |
29214-29217 |
CC |
denotes |
and |
T5889 |
29218-29219 |
DT |
denotes |
a |
T5891 |
29220-29225 |
JJ |
denotes |
novel |
T5892 |
29226-29231 |
NN |
denotes |
point |
T5890 |
29232-29240 |
NN |
denotes |
mutation |
T5893 |
29241-29249 |
VBG |
denotes |
encoding |
T5894 |
29250-29258 |
NN |
denotes |
XPDL485P |
T5895 |
29259-29261 |
IN |
denotes |
in |
T5896 |
29262-29265 |
DT |
denotes |
the |
T5897 |
29266-29271 |
JJ |
denotes |
other |
T5898 |
29271-29272 |
. |
denotes |
. |
T5899 |
29272-29560 |
sentence |
denotes |
Although the XPDL485P-encoding allele fails to complement viability in the haploid S. pombe rad15 deletion strain and is thus interpretable as a null allele [8], we nonetheless suggest that the combined XPTTD phenotype in this patient involves phenotypic contributions from both alleles. |
T5900 |
29273-29281 |
IN |
denotes |
Although |
T5902 |
29282-29285 |
DT |
denotes |
the |
T5904 |
29286-29294 |
NN |
denotes |
XPDL485P |
T5906 |
29294-29295 |
HYPH |
denotes |
- |
T5905 |
29295-29303 |
VBG |
denotes |
encoding |
T5903 |
29304-29310 |
NN |
denotes |
allele |
T5901 |
29311-29316 |
VBZ |
denotes |
fails |
T5908 |
29317-29319 |
TO |
denotes |
to |
T5909 |
29320-29330 |
VB |
denotes |
complement |
T5910 |
29331-29340 |
NN |
denotes |
viability |
T5911 |
29341-29343 |
IN |
denotes |
in |
T5912 |
29344-29347 |
DT |
denotes |
the |
T5914 |
29348-29355 |
JJ |
denotes |
haploid |
T5915 |
29356-29358 |
FW |
denotes |
S. |
T5916 |
29359-29364 |
FW |
denotes |
pombe |
T5917 |
29365-29370 |
NN |
denotes |
rad15 |
T5918 |
29371-29379 |
NN |
denotes |
deletion |
T5913 |
29380-29386 |
NN |
denotes |
strain |
T5919 |
29387-29390 |
CC |
denotes |
and |
T5920 |
29391-29393 |
VBZ |
denotes |
is |
T5921 |
29394-29398 |
RB |
denotes |
thus |
T5922 |
29399-29412 |
JJ |
denotes |
interpretable |
T5923 |
29413-29415 |
IN |
denotes |
as |
T5924 |
29416-29417 |
DT |
denotes |
a |
T5926 |
29418-29422 |
JJ |
denotes |
null |
T5925 |
29423-29429 |
NN |
denotes |
allele |
T5927 |
29430-29431 |
-LRB- |
denotes |
[ |
T5928 |
29431-29432 |
CD |
denotes |
8 |
T5929 |
29432-29433 |
-RRB- |
denotes |
] |
T5930 |
29433-29435 |
, |
denotes |
, |
T5931 |
29435-29437 |
PRP |
denotes |
we |
T5932 |
29438-29449 |
RB |
denotes |
nonetheless |
T5907 |
29450-29457 |
VBP |
denotes |
suggest |
T5933 |
29458-29462 |
IN |
denotes |
that |
T5935 |
29463-29466 |
DT |
denotes |
the |
T5937 |
29467-29475 |
JJ |
denotes |
combined |
T5938 |
29476-29481 |
NN |
denotes |
XPTTD |
T5936 |
29482-29491 |
NN |
denotes |
phenotype |
T5939 |
29492-29494 |
IN |
denotes |
in |
T5940 |
29495-29499 |
DT |
denotes |
this |
T5941 |
29500-29507 |
NN |
denotes |
patient |
T5934 |
29508-29516 |
VBZ |
denotes |
involves |
T5942 |
29517-29527 |
JJ |
denotes |
phenotypic |
T5943 |
29528-29541 |
NNS |
denotes |
contributions |
T5944 |
29542-29546 |
IN |
denotes |
from |
T5945 |
29547-29551 |
DT |
denotes |
both |
T5946 |
29552-29559 |
NNS |
denotes |
alleles |
T5947 |
29559-29560 |
. |
denotes |
. |
T5948 |
29560-29693 |
sentence |
denotes |
Taken together, these data suggest a shift to a biallelic paradigm for compound heterozygous patients in XP complementation group D. |
T5949 |
29561-29566 |
VBN |
denotes |
Taken |
T5951 |
29567-29575 |
RB |
denotes |
together |
T5952 |
29575-29577 |
, |
denotes |
, |
T5953 |
29577-29582 |
DT |
denotes |
these |
T5954 |
29583-29587 |
NNS |
denotes |
data |
T5950 |
29588-29595 |
VBP |
denotes |
suggest |
T5955 |
29596-29597 |
DT |
denotes |
a |
T5956 |
29598-29603 |
NN |
denotes |
shift |
T5957 |
29604-29606 |
IN |
denotes |
to |
T5958 |
29607-29608 |
DT |
denotes |
a |
T5960 |
29609-29618 |
JJ |
denotes |
biallelic |
T5959 |
29619-29627 |
NN |
denotes |
paradigm |
T5961 |
29628-29631 |
IN |
denotes |
for |
T5962 |
29632-29640 |
NN |
denotes |
compound |
T5964 |
29641-29653 |
JJ |
denotes |
heterozygous |
T5963 |
29654-29662 |
NNS |
denotes |
patients |
T5965 |
29663-29665 |
IN |
denotes |
in |
T5966 |
29666-29668 |
NN |
denotes |
XP |
T5968 |
29669-29684 |
NN |
denotes |
complementation |
T5969 |
29685-29690 |
NN |
denotes |
group |
T5967 |
29691-29692 |
NN |
denotes |
D |
T5970 |
29692-29693 |
. |
denotes |
. |
T9280 |
29704-29712 |
NN |
denotes |
Genotype |
T9282 |
29712-29713 |
HYPH |
denotes |
– |
T9281 |
29713-29722 |
NN |
denotes |
Phenotype |
T9283 |
29723-29736 |
NNS |
denotes |
Relationships |
T9284 |
29737-29739 |
IN |
denotes |
in |
T9285 |
29740-29743 |
NN |
denotes |
XPD |
T9286 |
29744-29753 |
NNS |
denotes |
Disorders |
T9287 |
29753-29866 |
sentence |
denotes |
According to the current monoallelic hypothesis, phenotype is determined solely by the causative allele product. |
T9288 |
29754-29763 |
VBG |
denotes |
According |
T9290 |
29764-29766 |
IN |
denotes |
to |
T9291 |
29767-29770 |
DT |
denotes |
the |
T9293 |
29771-29778 |
JJ |
denotes |
current |
T9294 |
29779-29790 |
JJ |
denotes |
monoallelic |
T9292 |
29791-29801 |
NN |
denotes |
hypothesis |
T9295 |
29801-29803 |
, |
denotes |
, |
T9296 |
29803-29812 |
NN |
denotes |
phenotype |
T9297 |
29813-29815 |
VBZ |
denotes |
is |
T9289 |
29816-29826 |
VBN |
denotes |
determined |
T9298 |
29827-29833 |
RB |
denotes |
solely |
T9299 |
29834-29836 |
IN |
denotes |
by |
T9300 |
29837-29840 |
DT |
denotes |
the |
T9302 |
29841-29850 |
JJ |
denotes |
causative |
T9303 |
29851-29857 |
NN |
denotes |
allele |
T9301 |
29858-29865 |
NN |
denotes |
product |
T9304 |
29865-29866 |
. |
denotes |
. |
T9305 |
29866-29944 |
sentence |
denotes |
If a second, different allele is present, it is considered a functional null. |
T9306 |
29867-29869 |
IN |
denotes |
If |
T9308 |
29870-29871 |
DT |
denotes |
a |
T9310 |
29872-29878 |
JJ |
denotes |
second |
T9311 |
29878-29880 |
, |
denotes |
, |
T9312 |
29880-29889 |
JJ |
denotes |
different |
T9309 |
29890-29896 |
NN |
denotes |
allele |
T9307 |
29897-29899 |
VBZ |
denotes |
is |
T9314 |
29900-29907 |
JJ |
denotes |
present |
T9315 |
29907-29909 |
, |
denotes |
, |
T9316 |
29909-29911 |
PRP |
denotes |
it |
T9317 |
29912-29914 |
VBZ |
denotes |
is |
T9313 |
29915-29925 |
VBN |
denotes |
considered |
T9318 |
29926-29927 |
DT |
denotes |
a |
T9320 |
29928-29938 |
JJ |
denotes |
functional |
T9319 |
29939-29943 |
NN |
denotes |
null |
T9321 |
29943-29944 |
. |
denotes |
. |
T9322 |
29944-30044 |
sentence |
denotes |
There is a lack of any correlation between the site of the XPD mutation and the resulting disorder. |
T9323 |
29945-29950 |
EX |
denotes |
There |
T9324 |
29951-29953 |
VBZ |
denotes |
is |
T9325 |
29954-29955 |
DT |
denotes |
a |
T9326 |
29956-29960 |
NN |
denotes |
lack |
T9327 |
29961-29963 |
IN |
denotes |
of |
T9328 |
29964-29967 |
DT |
denotes |
any |
T9329 |
29968-29979 |
NN |
denotes |
correlation |
T9330 |
29980-29987 |
IN |
denotes |
between |
T9331 |
29988-29991 |
DT |
denotes |
the |
T9332 |
29992-29996 |
NN |
denotes |
site |
T9333 |
29997-29999 |
IN |
denotes |
of |
T9334 |
30000-30003 |
DT |
denotes |
the |
T9336 |
30004-30007 |
NN |
denotes |
XPD |
T9335 |
30008-30016 |
NN |
denotes |
mutation |
T9337 |
30017-30020 |
CC |
denotes |
and |
T9338 |
30021-30024 |
DT |
denotes |
the |
T9340 |
30025-30034 |
VBG |
denotes |
resulting |
T9339 |
30035-30043 |
NN |
denotes |
disorder |
T9341 |
30043-30044 |
. |
denotes |
. |
T9342 |
30044-30160 |
sentence |
denotes |
We propose a biallelic hypothesis for compound heterozygotes in which both alleles can contribute to the phenotype. |
T9343 |
30045-30047 |
PRP |
denotes |
We |
T9344 |
30048-30055 |
VBP |
denotes |
propose |
T9345 |
30056-30057 |
DT |
denotes |
a |
T9347 |
30058-30067 |
JJ |
denotes |
biallelic |
T9346 |
30068-30078 |
NN |
denotes |
hypothesis |
T9348 |
30079-30082 |
IN |
denotes |
for |
T9349 |
30083-30091 |
NN |
denotes |
compound |
T9350 |
30092-30105 |
NNS |
denotes |
heterozygotes |
T9351 |
30106-30108 |
IN |
denotes |
in |
T9353 |
30109-30114 |
WDT |
denotes |
which |
T9354 |
30115-30119 |
DT |
denotes |
both |
T9355 |
30120-30127 |
NNS |
denotes |
alleles |
T9356 |
30128-30131 |
MD |
denotes |
can |
T9352 |
30132-30142 |
VB |
denotes |
contribute |
T9357 |
30143-30145 |
IN |
denotes |
to |
T9358 |
30146-30149 |
DT |
denotes |
the |
T9359 |
30150-30159 |
NN |
denotes |
phenotype |
T9360 |
30159-30160 |
. |
denotes |
. |
T9361 |
30160-30397 |
sentence |
denotes |
Examples of compound heterozygous patients in which a second, presumed null allele is likely to contribute to disease outcome are provided above in comparison to corresponding homo- or hemizygous patients with the same causative allele. |
T9362 |
30161-30169 |
NNS |
denotes |
Examples |
T9364 |
30170-30172 |
IN |
denotes |
of |
T9365 |
30173-30181 |
NN |
denotes |
compound |
T9367 |
30182-30194 |
JJ |
denotes |
heterozygous |
T9366 |
30195-30203 |
NNS |
denotes |
patients |
T9368 |
30204-30206 |
IN |
denotes |
in |
T9370 |
30207-30212 |
WDT |
denotes |
which |
T9371 |
30213-30214 |
DT |
denotes |
a |
T9373 |
30215-30221 |
JJ |
denotes |
second |
T9374 |
30221-30223 |
, |
denotes |
, |
T9375 |
30223-30231 |
JJ |
denotes |
presumed |
T9376 |
30232-30236 |
JJ |
denotes |
null |
T9372 |
30237-30243 |
NN |
denotes |
allele |
T9369 |
30244-30246 |
VBZ |
denotes |
is |
T9377 |
30247-30253 |
JJ |
denotes |
likely |
T9378 |
30254-30256 |
TO |
denotes |
to |
T9379 |
30257-30267 |
VB |
denotes |
contribute |
T9380 |
30268-30270 |
IN |
denotes |
to |
T9381 |
30271-30278 |
NN |
denotes |
disease |
T9382 |
30279-30286 |
NN |
denotes |
outcome |
T9383 |
30287-30290 |
VBP |
denotes |
are |
T9363 |
30291-30299 |
VBN |
denotes |
provided |
T9384 |
30300-30305 |
RB |
denotes |
above |
T9385 |
30306-30308 |
IN |
denotes |
in |
T9386 |
30309-30319 |
NN |
denotes |
comparison |
T9387 |
30320-30322 |
IN |
denotes |
to |
T9388 |
30323-30336 |
VBG |
denotes |
corresponding |
T9390 |
30337-30341 |
AFX |
denotes |
homo |
T9392 |
30341-30342 |
HYPH |
denotes |
- |
T9393 |
30343-30345 |
CC |
denotes |
or |
T9391 |
30346-30356 |
JJ |
denotes |
hemizygous |
T9389 |
30357-30365 |
NNS |
denotes |
patients |
T9394 |
30366-30370 |
IN |
denotes |
with |
T9395 |
30371-30374 |
DT |
denotes |
the |
T9397 |
30375-30379 |
JJ |
denotes |
same |
T9398 |
30380-30389 |
JJ |
denotes |
causative |
T9396 |
30390-30396 |
NN |
denotes |
allele |
T9399 |
30396-30397 |
. |
denotes |
. |
T9400 |
30397-30468 |
sentence |
denotes |
Numbers in the schematic of the protein indicate the helicase domains. |
T9401 |
30398-30405 |
NNS |
denotes |
Numbers |
T9403 |
30406-30408 |
IN |
denotes |
in |
T9404 |
30409-30412 |
DT |
denotes |
the |
T9405 |
30413-30422 |
NN |
denotes |
schematic |
T9406 |
30423-30425 |
IN |
denotes |
of |
T9407 |
30426-30429 |
DT |
denotes |
the |
T9408 |
30430-30437 |
NN |
denotes |
protein |
T9402 |
30438-30446 |
VBP |
denotes |
indicate |
T9409 |
30447-30450 |
DT |
denotes |
the |
T9411 |
30451-30459 |
NN |
denotes |
helicase |
T9410 |
30460-30467 |
NNS |
denotes |
domains |
T9412 |
30467-30468 |
. |
denotes |
. |
T6041 |
30470-30479 |
NN |
denotes |
Potential |
T6042 |
30480-30482 |
IN |
denotes |
of |
T6043 |
30483-30491 |
VBN |
denotes |
Combined |
T6045 |
30492-30501 |
JJ |
denotes |
Recessive |
T6044 |
30502-30509 |
NNS |
denotes |
Alleles |
T6046 |
30510-30512 |
TO |
denotes |
to |
T6047 |
30513-30519 |
VB |
denotes |
Affect |
T6048 |
30520-30530 |
JJ |
denotes |
Phenotypic |
T6049 |
30531-30540 |
NN |
denotes |
Diversity |
T6050 |
30541-30543 |
IN |
denotes |
in |
T6051 |
30544-30551 |
NNS |
denotes |
Mammals |
T6052 |
30551-30660 |
sentence |
denotes |
In humans, the clinical relevance of biallelic effects such as interallelic complementation remains unknown. |
T6053 |
30552-30554 |
IN |
denotes |
In |
T6055 |
30555-30561 |
NNS |
denotes |
humans |
T6056 |
30561-30563 |
, |
denotes |
, |
T6057 |
30563-30566 |
DT |
denotes |
the |
T6059 |
30567-30575 |
JJ |
denotes |
clinical |
T6058 |
30576-30585 |
NN |
denotes |
relevance |
T6060 |
30586-30588 |
IN |
denotes |
of |
T6061 |
30589-30598 |
JJ |
denotes |
biallelic |
T6062 |
30599-30606 |
NNS |
denotes |
effects |
T6063 |
30607-30611 |
JJ |
denotes |
such |
T6064 |
30612-30614 |
IN |
denotes |
as |
T6065 |
30615-30627 |
JJ |
denotes |
interallelic |
T6066 |
30628-30643 |
NN |
denotes |
complementation |
T6054 |
30644-30651 |
VBZ |
denotes |
remains |
T6067 |
30652-30659 |
JJ |
denotes |
unknown |
T6068 |
30659-30660 |
. |
denotes |
. |
T6069 |
30660-30904 |
sentence |
denotes |
Although interallelic complementation between two endogenous mutant alleles has been described in cells from a compound heterozygous patient with methylmalonic acidaemia, no observable effects on disease outcome were noted in the patient [28]. |
T6070 |
30661-30669 |
IN |
denotes |
Although |
T6072 |
30670-30682 |
JJ |
denotes |
interallelic |
T6073 |
30683-30698 |
NN |
denotes |
complementation |
T6074 |
30699-30706 |
IN |
denotes |
between |
T6075 |
30707-30710 |
CD |
denotes |
two |
T6077 |
30711-30721 |
JJ |
denotes |
endogenous |
T6078 |
30722-30728 |
JJ |
denotes |
mutant |
T6076 |
30729-30736 |
NNS |
denotes |
alleles |
T6079 |
30737-30740 |
VBZ |
denotes |
has |
T6080 |
30741-30745 |
VBN |
denotes |
been |
T6071 |
30746-30755 |
VBN |
denotes |
described |
T6082 |
30756-30758 |
IN |
denotes |
in |
T6083 |
30759-30764 |
NNS |
denotes |
cells |
T6084 |
30765-30769 |
IN |
denotes |
from |
T6085 |
30770-30771 |
DT |
denotes |
a |
T6087 |
30772-30780 |
NN |
denotes |
compound |
T6088 |
30781-30793 |
JJ |
denotes |
heterozygous |
T6086 |
30794-30801 |
NN |
denotes |
patient |
T6089 |
30802-30806 |
IN |
denotes |
with |
T6090 |
30807-30820 |
JJ |
denotes |
methylmalonic |
T6091 |
30821-30830 |
NN |
denotes |
acidaemia |
T6092 |
30830-30832 |
, |
denotes |
, |
T6093 |
30832-30834 |
DT |
denotes |
no |
T6095 |
30835-30845 |
JJ |
denotes |
observable |
T6094 |
30846-30853 |
NNS |
denotes |
effects |
T6096 |
30854-30856 |
IN |
denotes |
on |
T6097 |
30857-30864 |
NN |
denotes |
disease |
T6098 |
30865-30872 |
NN |
denotes |
outcome |
T6099 |
30873-30877 |
VBD |
denotes |
were |
T6081 |
30878-30883 |
VBN |
denotes |
noted |
T6100 |
30884-30886 |
IN |
denotes |
in |
T6101 |
30887-30890 |
DT |
denotes |
the |
T6102 |
30891-30898 |
NN |
denotes |
patient |
T6103 |
30899-30900 |
-LRB- |
denotes |
[ |
T6104 |
30900-30902 |
CD |
denotes |
28 |
T6105 |
30902-30903 |
-RRB- |
denotes |
] |
T6106 |
30903-30904 |
. |
denotes |
. |
T6107 |
30904-31122 |
sentence |
denotes |
Thus, to the best of our knowledge, the amelioration of progeroid features observed here is the first in vivo demonstration in compound heterozygous animals of interallelic complementation relevant to a human disease. |
T6108 |
30905-30909 |
RB |
denotes |
Thus |
T6110 |
30909-30911 |
, |
denotes |
, |
T6111 |
30911-30913 |
IN |
denotes |
to |
T6112 |
30914-30917 |
DT |
denotes |
the |
T6113 |
30918-30922 |
JJS |
denotes |
best |
T6114 |
30923-30925 |
IN |
denotes |
of |
T6115 |
30926-30929 |
PRP$ |
denotes |
our |
T6116 |
30930-30939 |
NN |
denotes |
knowledge |
T6117 |
30939-30941 |
, |
denotes |
, |
T6118 |
30941-30944 |
DT |
denotes |
the |
T6119 |
30945-30957 |
NN |
denotes |
amelioration |
T6120 |
30958-30960 |
IN |
denotes |
of |
T6121 |
30961-30970 |
JJ |
denotes |
progeroid |
T6122 |
30971-30979 |
NNS |
denotes |
features |
T6123 |
30980-30988 |
VBN |
denotes |
observed |
T6124 |
30989-30993 |
RB |
denotes |
here |
T6109 |
30994-30996 |
VBZ |
denotes |
is |
T6125 |
30997-31000 |
DT |
denotes |
the |
T6127 |
31001-31006 |
JJ |
denotes |
first |
T6128 |
31007-31009 |
FW |
denotes |
in |
T6129 |
31010-31014 |
FW |
denotes |
vivo |
T6126 |
31015-31028 |
NN |
denotes |
demonstration |
T6130 |
31029-31031 |
IN |
denotes |
in |
T6131 |
31032-31040 |
NN |
denotes |
compound |
T6133 |
31041-31053 |
JJ |
denotes |
heterozygous |
T6132 |
31054-31061 |
NNS |
denotes |
animals |
T6134 |
31062-31064 |
IN |
denotes |
of |
T6135 |
31065-31077 |
JJ |
denotes |
interallelic |
T6136 |
31078-31093 |
NN |
denotes |
complementation |
T6137 |
31094-31102 |
JJ |
denotes |
relevant |
T6138 |
31103-31105 |
IN |
denotes |
to |
T6139 |
31106-31107 |
DT |
denotes |
a |
T6141 |
31108-31113 |
JJ |
denotes |
human |
T6140 |
31114-31121 |
NN |
denotes |
disease |
T6142 |
31121-31122 |
. |
denotes |
. |
T6143 |
31122-31498 |
sentence |
denotes |
Keeping in mind that the ~1,200 alleles known to exist for the CTRF gene implicated in the common autosomal recessive disorder cystic fibrosis alone [29] can theoretically result in ~700,000 different allelic combinations, the potential number of allelic combinations of different recessive mutations and single nucleotide polymorphisms genome-wide is currently incalculable. |
T6144 |
31123-31130 |
VBG |
denotes |
Keeping |
T6146 |
31131-31133 |
IN |
denotes |
in |
T6147 |
31134-31138 |
NN |
denotes |
mind |
T6148 |
31139-31143 |
IN |
denotes |
that |
T6150 |
31144-31147 |
DT |
denotes |
the |
T6152 |
31148-31149 |
SYM |
denotes |
~ |
T6153 |
31149-31154 |
CD |
denotes |
1,200 |
T6151 |
31155-31162 |
NNS |
denotes |
alleles |
T6154 |
31163-31168 |
VBN |
denotes |
known |
T6155 |
31169-31171 |
TO |
denotes |
to |
T6156 |
31172-31177 |
VB |
denotes |
exist |
T6157 |
31178-31181 |
IN |
denotes |
for |
T6158 |
31182-31185 |
DT |
denotes |
the |
T6160 |
31186-31190 |
NN |
denotes |
CTRF |
T6159 |
31191-31195 |
NN |
denotes |
gene |
T6161 |
31196-31206 |
VBN |
denotes |
implicated |
T6162 |
31207-31209 |
IN |
denotes |
in |
T6163 |
31210-31213 |
DT |
denotes |
the |
T6165 |
31214-31220 |
JJ |
denotes |
common |
T6166 |
31221-31230 |
JJ |
denotes |
autosomal |
T6167 |
31231-31240 |
JJ |
denotes |
recessive |
T6164 |
31241-31249 |
NN |
denotes |
disorder |
T6168 |
31250-31256 |
JJ |
denotes |
cystic |
T6169 |
31257-31265 |
NN |
denotes |
fibrosis |
T6170 |
31266-31271 |
RB |
denotes |
alone |
T6171 |
31272-31273 |
-LRB- |
denotes |
[ |
T6172 |
31273-31275 |
CD |
denotes |
29 |
T6173 |
31275-31276 |
-RRB- |
denotes |
] |
T6174 |
31277-31280 |
MD |
denotes |
can |
T6175 |
31281-31294 |
RB |
denotes |
theoretically |
T6149 |
31295-31301 |
VB |
denotes |
result |
T6176 |
31302-31304 |
IN |
denotes |
in |
T6177 |
31305-31306 |
SYM |
denotes |
~ |
T6178 |
31306-31313 |
CD |
denotes |
700,000 |
T6180 |
31314-31323 |
JJ |
denotes |
different |
T6181 |
31324-31331 |
JJ |
denotes |
allelic |
T6179 |
31332-31344 |
NNS |
denotes |
combinations |
T6182 |
31344-31346 |
, |
denotes |
, |
T6183 |
31346-31349 |
DT |
denotes |
the |
T6185 |
31350-31359 |
JJ |
denotes |
potential |
T6184 |
31360-31366 |
NN |
denotes |
number |
T6186 |
31367-31369 |
IN |
denotes |
of |
T6187 |
31370-31377 |
JJ |
denotes |
allelic |
T6188 |
31378-31390 |
NNS |
denotes |
combinations |
T6189 |
31391-31393 |
IN |
denotes |
of |
T6190 |
31394-31403 |
JJ |
denotes |
different |
T6192 |
31404-31413 |
JJ |
denotes |
recessive |
T6191 |
31414-31423 |
NNS |
denotes |
mutations |
T6193 |
31424-31427 |
CC |
denotes |
and |
T6194 |
31428-31434 |
JJ |
denotes |
single |
T6196 |
31435-31445 |
NN |
denotes |
nucleotide |
T6195 |
31446-31459 |
NNS |
denotes |
polymorphisms |
T6197 |
31460-31466 |
NN |
denotes |
genome |
T6199 |
31466-31467 |
HYPH |
denotes |
- |
T6198 |
31467-31471 |
JJ |
denotes |
wide |
T6145 |
31472-31474 |
VBZ |
denotes |
is |
T6200 |
31475-31484 |
RB |
denotes |
currently |
T6201 |
31485-31497 |
JJ |
denotes |
incalculable |
T6202 |
31497-31498 |
. |
denotes |
. |
T6203 |
31498-31705 |
sentence |
denotes |
We suggest biallelic effects as a previously underestimated yet important variable in considering genotype–phenotype relationships from autosomal recessive disease to normal phenotypic diversity in mammals. |
T6204 |
31499-31501 |
PRP |
denotes |
We |
T6205 |
31502-31509 |
VBP |
denotes |
suggest |
T6206 |
31510-31519 |
JJ |
denotes |
biallelic |
T6207 |
31520-31527 |
NNS |
denotes |
effects |
T6208 |
31528-31530 |
IN |
denotes |
as |
T6209 |
31531-31532 |
DT |
denotes |
a |
T6211 |
31533-31543 |
RB |
denotes |
previously |
T6212 |
31544-31558 |
VBN |
denotes |
underestimated |
T6214 |
31559-31562 |
RB |
denotes |
yet |
T6213 |
31563-31572 |
JJ |
denotes |
important |
T6210 |
31573-31581 |
NN |
denotes |
variable |
T6215 |
31582-31584 |
IN |
denotes |
in |
T6216 |
31585-31596 |
VBG |
denotes |
considering |
T6217 |
31597-31605 |
NN |
denotes |
genotype |
T6219 |
31605-31606 |
HYPH |
denotes |
– |
T6218 |
31606-31615 |
NN |
denotes |
phenotype |
T6220 |
31616-31629 |
NNS |
denotes |
relationships |
T6221 |
31630-31634 |
IN |
denotes |
from |
T6222 |
31635-31644 |
JJ |
denotes |
autosomal |
T6224 |
31645-31654 |
JJ |
denotes |
recessive |
T6223 |
31655-31662 |
NN |
denotes |
disease |
T6225 |
31663-31665 |
IN |
denotes |
to |
T6226 |
31666-31672 |
JJ |
denotes |
normal |
T6228 |
31673-31683 |
JJ |
denotes |
phenotypic |
T6227 |
31684-31693 |
NN |
denotes |
diversity |
T6229 |
31694-31696 |
IN |
denotes |
in |
T6230 |
31697-31704 |
NNS |
denotes |
mammals |
T6231 |
31704-31705 |
. |
denotes |
. |
T6232 |
31705-31882 |
sentence |
denotes |
Extension of the above concept implies that recessive mutations can enter evolutionary selection in F1 provided that the second allele carries a different recessive alteration. |
T6233 |
31706-31715 |
NN |
denotes |
Extension |
T6235 |
31716-31718 |
IN |
denotes |
of |
T6236 |
31719-31722 |
DT |
denotes |
the |
T6238 |
31723-31728 |
JJ |
denotes |
above |
T6237 |
31729-31736 |
NN |
denotes |
concept |
T6234 |
31737-31744 |
VBZ |
denotes |
implies |
T6239 |
31745-31749 |
IN |
denotes |
that |
T6241 |
31750-31759 |
JJ |
denotes |
recessive |
T6242 |
31760-31769 |
NNS |
denotes |
mutations |
T6243 |
31770-31773 |
MD |
denotes |
can |
T6240 |
31774-31779 |
VB |
denotes |
enter |
T6244 |
31780-31792 |
JJ |
denotes |
evolutionary |
T6245 |
31793-31802 |
NN |
denotes |
selection |
T6246 |
31803-31805 |
IN |
denotes |
in |
T6247 |
31806-31808 |
NN |
denotes |
F1 |
T6248 |
31809-31817 |
VBN |
denotes |
provided |
T6249 |
31818-31822 |
IN |
denotes |
that |
T6251 |
31823-31826 |
DT |
denotes |
the |
T6253 |
31827-31833 |
JJ |
denotes |
second |
T6252 |
31834-31840 |
NN |
denotes |
allele |
T6250 |
31841-31848 |
VBZ |
denotes |
carries |
T6254 |
31849-31850 |
DT |
denotes |
a |
T6256 |
31851-31860 |
JJ |
denotes |
different |
T6257 |
31861-31870 |
JJ |
denotes |
recessive |
T6255 |
31871-31881 |
NN |
denotes |
alteration |
T6258 |
31881-31882 |
. |
denotes |
. |
T6259 |
31882-32079 |
sentence |
denotes |
Finally, our data highlight the potential of clinically relevant alleles previously designated as null, with little or no detectable expression or activity, to nonetheless contribute to phenotype. |
T6260 |
31883-31890 |
RB |
denotes |
Finally |
T6262 |
31890-31892 |
, |
denotes |
, |
T6263 |
31892-31895 |
PRP$ |
denotes |
our |
T6264 |
31896-31900 |
NNS |
denotes |
data |
T6261 |
31901-31910 |
VBP |
denotes |
highlight |
T6265 |
31911-31914 |
DT |
denotes |
the |
T6266 |
31915-31924 |
NN |
denotes |
potential |
T6267 |
31925-31927 |
IN |
denotes |
of |
T6268 |
31928-31938 |
RB |
denotes |
clinically |
T6269 |
31939-31947 |
JJ |
denotes |
relevant |
T6270 |
31948-31955 |
NNS |
denotes |
alleles |
T6271 |
31956-31966 |
RB |
denotes |
previously |
T6272 |
31967-31977 |
VBN |
denotes |
designated |
T6273 |
31978-31980 |
IN |
denotes |
as |
T6274 |
31981-31985 |
JJ |
denotes |
null |
T6275 |
31985-31987 |
, |
denotes |
, |
T6276 |
31987-31991 |
IN |
denotes |
with |
T6277 |
31992-31998 |
JJ |
denotes |
little |
T6279 |
31999-32001 |
CC |
denotes |
or |
T6280 |
32002-32004 |
DT |
denotes |
no |
T6281 |
32005-32015 |
JJ |
denotes |
detectable |
T6278 |
32016-32026 |
NN |
denotes |
expression |
T6282 |
32027-32029 |
CC |
denotes |
or |
T6283 |
32030-32038 |
NN |
denotes |
activity |
T6284 |
32038-32040 |
, |
denotes |
, |
T6285 |
32040-32042 |
TO |
denotes |
to |
T6287 |
32043-32054 |
RB |
denotes |
nonetheless |
T6286 |
32055-32065 |
VB |
denotes |
contribute |
T6288 |
32066-32068 |
IN |
denotes |
to |
T6289 |
32069-32078 |
NN |
denotes |
phenotype |
T6290 |
32078-32079 |
. |
denotes |
. |
T6364 |
32104-32114 |
NN |
denotes |
Derivation |
T6365 |
32115-32118 |
CC |
denotes |
and |
T6366 |
32119-32127 |
NN |
denotes |
analysis |
T6367 |
32128-32130 |
IN |
denotes |
of |
T6368 |
32131-32137 |
JJ |
denotes |
mutant |
T6369 |
32138-32142 |
NNS |
denotes |
mice |
T6370 |
32142-32143 |
. |
denotes |
. |
T6371 |
32143-32233 |
sentence |
denotes |
Generation of XpdTTD (XPDR722W) and XpdTTD/KO mice has been described previously [21,22]. |
T6372 |
32144-32154 |
NN |
denotes |
Generation |
T6374 |
32155-32157 |
IN |
denotes |
of |
T6375 |
32158-32164 |
NN |
denotes |
XpdTTD |
T6377 |
32165-32166 |
-LRB- |
denotes |
( |
T6378 |
32166-32174 |
NN |
denotes |
XPDR722W |
T6379 |
32174-32175 |
-RRB- |
denotes |
) |
T6380 |
32176-32179 |
CC |
denotes |
and |
T6381 |
32180-32186 |
NN |
denotes |
XpdTTD |
T6383 |
32186-32187 |
HYPH |
denotes |
/ |
T6382 |
32187-32189 |
NN |
denotes |
KO |
T6376 |
32190-32194 |
NNS |
denotes |
mice |
T6384 |
32195-32198 |
VBZ |
denotes |
has |
T6385 |
32199-32203 |
VBN |
denotes |
been |
T6373 |
32204-32213 |
VBN |
denotes |
described |
T6386 |
32214-32224 |
RB |
denotes |
previously |
T6387 |
32225-32226 |
-LRB- |
denotes |
[ |
T6389 |
32226-32228 |
CD |
denotes |
21 |
T6390 |
32228-32229 |
, |
denotes |
, |
T6388 |
32229-32231 |
CD |
denotes |
22 |
T6391 |
32231-32232 |
-RRB- |
denotes |
] |
T6392 |
32232-32233 |
. |
denotes |
. |
T6393 |
32233-32422 |
sentence |
denotes |
A detailed description of the generation of targeting constructs for Xpd†XPCS and Xpd †XP alleles carrying mutations encoding the G602D and R683W alterations will be provided upon request. |
T6394 |
32234-32235 |
DT |
denotes |
A |
T6396 |
32236-32244 |
JJ |
denotes |
detailed |
T6395 |
32245-32256 |
NN |
denotes |
description |
T6398 |
32257-32259 |
IN |
denotes |
of |
T6399 |
32260-32263 |
DT |
denotes |
the |
T6400 |
32264-32274 |
NN |
denotes |
generation |
T6401 |
32275-32277 |
IN |
denotes |
of |
T6402 |
32278-32287 |
VBG |
denotes |
targeting |
T6403 |
32288-32298 |
NNS |
denotes |
constructs |
T6404 |
32299-32302 |
IN |
denotes |
for |
T6405 |
32303-32311 |
NN |
denotes |
Xpd†XPCS |
T6407 |
32312-32315 |
CC |
denotes |
and |
T6408 |
32316-32323 |
NN |
denotes |
Xpd †XP |
T6406 |
32324-32331 |
NNS |
denotes |
alleles |
T6409 |
32332-32340 |
VBG |
denotes |
carrying |
T6410 |
32341-32350 |
NNS |
denotes |
mutations |
T6411 |
32351-32359 |
VBG |
denotes |
encoding |
T6412 |
32360-32363 |
DT |
denotes |
the |
T6414 |
32364-32369 |
NN |
denotes |
G602D |
T6415 |
32370-32373 |
CC |
denotes |
and |
T6416 |
32374-32379 |
NN |
denotes |
R683W |
T6413 |
32380-32391 |
NNS |
denotes |
alterations |
T6417 |
32392-32396 |
MD |
denotes |
will |
T6418 |
32397-32399 |
VB |
denotes |
be |
T6397 |
32400-32408 |
VBN |
denotes |
provided |
T6419 |
32409-32413 |
IN |
denotes |
upon |
T6420 |
32414-32421 |
NN |
denotes |
request |
T6421 |
32421-32422 |
. |
denotes |
. |
T6422 |
32422-32517 |
sentence |
denotes |
Chimeric mice and mouse embryonic fibroblasts were generated according to standard procedures. |
T6423 |
32423-32431 |
JJ |
denotes |
Chimeric |
T6425 |
32432-32436 |
NNS |
denotes |
mice |
T6426 |
32437-32440 |
CC |
denotes |
and |
T6427 |
32441-32446 |
NN |
denotes |
mouse |
T6428 |
32447-32456 |
JJ |
denotes |
embryonic |
T6424 |
32457-32468 |
NNS |
denotes |
fibroblasts |
T6430 |
32469-32473 |
VBD |
denotes |
were |
T6429 |
32474-32483 |
VBN |
denotes |
generated |
T6431 |
32484-32493 |
VBG |
denotes |
according |
T6432 |
32494-32496 |
IN |
denotes |
to |
T6433 |
32497-32505 |
JJ |
denotes |
standard |
T6434 |
32506-32516 |
NNS |
denotes |
procedures |
T6435 |
32516-32517 |
. |
denotes |
. |
T6436 |
32517-32597 |
sentence |
denotes |
Haematoxylin and eosin staining was performed according to standard procedures. |
T6437 |
32518-32530 |
NN |
denotes |
Haematoxylin |
T6439 |
32531-32534 |
CC |
denotes |
and |
T6440 |
32535-32540 |
NN |
denotes |
eosin |
T6438 |
32541-32549 |
NN |
denotes |
staining |
T6442 |
32550-32553 |
VBD |
denotes |
was |
T6441 |
32554-32563 |
VBN |
denotes |
performed |
T6443 |
32564-32573 |
VBG |
denotes |
according |
T6444 |
32574-32576 |
IN |
denotes |
to |
T6445 |
32577-32585 |
JJ |
denotes |
standard |
T6446 |
32586-32596 |
NNS |
denotes |
procedures |
T6447 |
32596-32597 |
. |
denotes |
. |
T6448 |
32597-32653 |
sentence |
denotes |
Amino acid analysis was conducted as described in [21]. |
T6449 |
32598-32603 |
NN |
denotes |
Amino |
T6450 |
32604-32608 |
NN |
denotes |
acid |
T6451 |
32609-32617 |
NN |
denotes |
analysis |
T6453 |
32618-32621 |
VBD |
denotes |
was |
T6452 |
32622-32631 |
VBN |
denotes |
conducted |
T6454 |
32632-32634 |
IN |
denotes |
as |
T6455 |
32635-32644 |
VBN |
denotes |
described |
T6456 |
32645-32647 |
IN |
denotes |
in |
T6457 |
32648-32649 |
-LRB- |
denotes |
[ |
T6458 |
32649-32651 |
CD |
denotes |
21 |
T6459 |
32651-32652 |
-RRB- |
denotes |
] |
T6460 |
32652-32653 |
. |
denotes |
. |
T6461 |
32653-32750 |
sentence |
denotes |
Blood values were analysed using Animal Blood Counter Vet (ABX Diagnostix, Montpellier, France). |
T6462 |
32654-32659 |
NN |
denotes |
Blood |
T6463 |
32660-32666 |
NNS |
denotes |
values |
T6465 |
32667-32671 |
VBD |
denotes |
were |
T6464 |
32672-32680 |
VBN |
denotes |
analysed |
T6466 |
32681-32686 |
VBG |
denotes |
using |
T6467 |
32687-32693 |
NN |
denotes |
Animal |
T6469 |
32694-32699 |
NN |
denotes |
Blood |
T6470 |
32700-32707 |
JJ |
denotes |
Counter |
T6468 |
32708-32711 |
NN |
denotes |
Vet |
T6471 |
32712-32713 |
-LRB- |
denotes |
( |
T6473 |
32713-32716 |
NNP |
denotes |
ABX |
T6472 |
32717-32727 |
NNP |
denotes |
Diagnostix |
T6474 |
32727-32729 |
, |
denotes |
, |
T6475 |
32729-32740 |
NNP |
denotes |
Montpellier |
T6476 |
32740-32742 |
, |
denotes |
, |
T6477 |
32742-32748 |
NNP |
denotes |
France |
T6478 |
32748-32749 |
-RRB- |
denotes |
) |
T6479 |
32749-32750 |
. |
denotes |
. |
T6480 |
32750-32845 |
sentence |
denotes |
Radiographs were taken, and relative bone mineral density was calculated as described in [15]. |
T6481 |
32751-32762 |
NNS |
denotes |
Radiographs |
T6483 |
32763-32767 |
VBD |
denotes |
were |
T6482 |
32768-32773 |
VBN |
denotes |
taken |
T6484 |
32773-32775 |
, |
denotes |
, |
T6485 |
32775-32778 |
CC |
denotes |
and |
T6486 |
32779-32787 |
JJ |
denotes |
relative |
T6488 |
32788-32792 |
NN |
denotes |
bone |
T6489 |
32793-32800 |
NN |
denotes |
mineral |
T6487 |
32801-32808 |
NN |
denotes |
density |
T6491 |
32809-32812 |
VBD |
denotes |
was |
T6490 |
32813-32823 |
VBN |
denotes |
calculated |
T6492 |
32824-32826 |
IN |
denotes |
as |
T6493 |
32827-32836 |
VBN |
denotes |
described |
T6494 |
32837-32839 |
IN |
denotes |
in |
T6495 |
32840-32841 |
-LRB- |
denotes |
[ |
T6496 |
32841-32843 |
CD |
denotes |
15 |
T6497 |
32843-32844 |
-RRB- |
denotes |
] |
T6498 |
32844-32845 |
. |
denotes |
. |
T6499 |
32845-32936 |
sentence |
denotes |
Mice used in this study were in a 129Ola/C57BL6 mixed background unless noted differently. |
T6500 |
32846-32850 |
NNS |
denotes |
Mice |
T6502 |
32851-32855 |
VBN |
denotes |
used |
T6503 |
32856-32858 |
IN |
denotes |
in |
T6504 |
32859-32863 |
DT |
denotes |
this |
T6505 |
32864-32869 |
NN |
denotes |
study |
T6501 |
32870-32874 |
VBD |
denotes |
were |
T6506 |
32875-32877 |
IN |
denotes |
in |
T6507 |
32878-32879 |
DT |
denotes |
a |
T6509 |
32880-32886 |
NN |
denotes |
129Ola |
T6511 |
32886-32887 |
HYPH |
denotes |
/ |
T6510 |
32887-32893 |
NN |
denotes |
C57BL6 |
T6512 |
32894-32899 |
JJ |
denotes |
mixed |
T6508 |
32900-32910 |
NN |
denotes |
background |
T6513 |
32911-32917 |
IN |
denotes |
unless |
T6514 |
32918-32923 |
VBN |
denotes |
noted |
T6515 |
32924-32935 |
RB |
denotes |
differently |
T6516 |
32935-32936 |
. |
denotes |
. |
T6517 |
32936-33163 |
sentence |
denotes |
All experiments involving mice were judged and approved by the national committee for genetic identification of organisms and the animal ethical committee, and were conducted according to national and international guidelines. |
T6518 |
32937-32940 |
DT |
denotes |
All |
T6519 |
32941-32952 |
NNS |
denotes |
experiments |
T6521 |
32953-32962 |
VBG |
denotes |
involving |
T6522 |
32963-32967 |
NNS |
denotes |
mice |
T6523 |
32968-32972 |
VBD |
denotes |
were |
T6520 |
32973-32979 |
VBN |
denotes |
judged |
T6524 |
32980-32983 |
CC |
denotes |
and |
T6525 |
32984-32992 |
VBN |
denotes |
approved |
T6526 |
32993-32995 |
IN |
denotes |
by |
T6527 |
32996-32999 |
DT |
denotes |
the |
T6529 |
33000-33008 |
JJ |
denotes |
national |
T6528 |
33009-33018 |
NN |
denotes |
committee |
T6530 |
33019-33022 |
IN |
denotes |
for |
T6531 |
33023-33030 |
JJ |
denotes |
genetic |
T6532 |
33031-33045 |
NN |
denotes |
identification |
T6533 |
33046-33048 |
IN |
denotes |
of |
T6534 |
33049-33058 |
NNS |
denotes |
organisms |
T6535 |
33059-33062 |
CC |
denotes |
and |
T6536 |
33063-33066 |
DT |
denotes |
the |
T6538 |
33067-33073 |
NN |
denotes |
animal |
T6539 |
33074-33081 |
JJ |
denotes |
ethical |
T6537 |
33082-33091 |
NN |
denotes |
committee |
T6540 |
33091-33093 |
, |
denotes |
, |
T6541 |
33093-33096 |
CC |
denotes |
and |
T6542 |
33097-33101 |
VBD |
denotes |
were |
T6543 |
33102-33111 |
VBN |
denotes |
conducted |
T6544 |
33112-33121 |
VBG |
denotes |
according |
T6545 |
33122-33124 |
IN |
denotes |
to |
T6546 |
33125-33133 |
JJ |
denotes |
national |
T6548 |
33134-33137 |
CC |
denotes |
and |
T6549 |
33138-33151 |
JJ |
denotes |
international |
T6547 |
33152-33162 |
NNS |
denotes |
guidelines |
T6550 |
33162-33163 |
. |
denotes |
. |
T6587 |
33165-33167 |
NN |
denotes |
UV |
T6588 |
33168-33179 |
NN |
denotes |
sensitivity |
T6589 |
33179-33181 |
, |
denotes |
, |
T6590 |
33181-33183 |
NN |
denotes |
UV |
T6592 |
33183-33184 |
HYPH |
denotes |
- |
T6591 |
33184-33187 |
NN |
denotes |
UDS |
T6594 |
33187-33189 |
, |
denotes |
, |
T6595 |
33189-33191 |
NN |
denotes |
UV |
T6597 |
33191-33192 |
HYPH |
denotes |
- |
T6596 |
33192-33195 |
NN |
denotes |
RRS |
T6598 |
33195-33197 |
, |
denotes |
, |
T6599 |
33197-33200 |
CC |
denotes |
and |
T6600 |
33201-33206 |
NN |
denotes |
TFIIH |
T6601 |
33207-33215 |
NN |
denotes |
incision |
T6603 |
33215-33216 |
HYPH |
denotes |
/ |
T6602 |
33216-33224 |
NN |
denotes |
excision |
T6593 |
33225-33233 |
NN |
denotes |
activity |
T6604 |
33233-33234 |
. |
denotes |
. |
T6605 |
33234-33321 |
sentence |
denotes |
UV survival, UV-UDS, and UV-RRS assays were performed as described previously [21,30]. |
T6606 |
33235-33237 |
NN |
denotes |
UV |
T6607 |
33238-33246 |
NN |
denotes |
survival |
T6609 |
33246-33248 |
, |
denotes |
, |
T6610 |
33248-33250 |
NN |
denotes |
UV |
T6612 |
33250-33251 |
HYPH |
denotes |
- |
T6611 |
33251-33254 |
NN |
denotes |
UDS |
T6613 |
33254-33256 |
, |
denotes |
, |
T6614 |
33256-33259 |
CC |
denotes |
and |
T6615 |
33260-33262 |
NN |
denotes |
UV |
T6617 |
33262-33263 |
HYPH |
denotes |
- |
T6616 |
33263-33266 |
NN |
denotes |
RRS |
T6608 |
33267-33273 |
NNS |
denotes |
assays |
T6619 |
33274-33278 |
VBD |
denotes |
were |
T6618 |
33279-33288 |
VBN |
denotes |
performed |
T6620 |
33289-33291 |
IN |
denotes |
as |
T6621 |
33292-33301 |
VBN |
denotes |
described |
T6622 |
33302-33312 |
RB |
denotes |
previously |
T6623 |
33313-33314 |
-LRB- |
denotes |
[ |
T6625 |
33314-33316 |
CD |
denotes |
21 |
T6626 |
33316-33317 |
, |
denotes |
, |
T6624 |
33317-33319 |
CD |
denotes |
30 |
T6627 |
33319-33320 |
-RRB- |
denotes |
] |
T6628 |
33320-33321 |
. |
denotes |
. |
T6629 |
33321-33480 |
sentence |
denotes |
For UV-RRS, average values from the representative experiment containing two wt, three XpdTTD/TTD, two XpdTTD/XPCS, and one XpdTTD/XP cell line are presented. |
T6630 |
33322-33325 |
IN |
denotes |
For |
T6632 |
33326-33328 |
NN |
denotes |
UV |
T6634 |
33328-33329 |
HYPH |
denotes |
- |
T6633 |
33329-33332 |
NN |
denotes |
RRS |
T6635 |
33332-33334 |
, |
denotes |
, |
T6636 |
33334-33341 |
JJ |
denotes |
average |
T6637 |
33342-33348 |
NNS |
denotes |
values |
T6638 |
33349-33353 |
IN |
denotes |
from |
T6639 |
33354-33357 |
DT |
denotes |
the |
T6641 |
33358-33372 |
JJ |
denotes |
representative |
T6640 |
33373-33383 |
NN |
denotes |
experiment |
T6642 |
33384-33394 |
VBG |
denotes |
containing |
T6643 |
33395-33398 |
CD |
denotes |
two |
T6644 |
33399-33401 |
NN |
denotes |
wt |
T6646 |
33401-33403 |
, |
denotes |
, |
T6647 |
33403-33408 |
CD |
denotes |
three |
T6649 |
33409-33415 |
NN |
denotes |
XpdTTD |
T6650 |
33415-33416 |
HYPH |
denotes |
/ |
T6648 |
33416-33419 |
NN |
denotes |
TTD |
T6651 |
33419-33421 |
, |
denotes |
, |
T6652 |
33421-33424 |
CD |
denotes |
two |
T6654 |
33425-33431 |
NN |
denotes |
XpdTTD |
T6655 |
33431-33432 |
HYPH |
denotes |
/ |
T6653 |
33432-33436 |
NN |
denotes |
XPCS |
T6656 |
33436-33438 |
, |
denotes |
, |
T6657 |
33438-33441 |
CC |
denotes |
and |
T6658 |
33442-33445 |
CD |
denotes |
one |
T6660 |
33446-33452 |
NN |
denotes |
XpdTTD |
T6661 |
33452-33453 |
HYPH |
denotes |
/ |
T6659 |
33453-33455 |
NN |
denotes |
XP |
T6662 |
33456-33460 |
NN |
denotes |
cell |
T6645 |
33461-33465 |
NN |
denotes |
line |
T6663 |
33466-33469 |
VBP |
denotes |
are |
T6631 |
33470-33479 |
VBN |
denotes |
presented |
T6664 |
33479-33480 |
. |
denotes |
. |
T6665 |
33480-33728 |
sentence |
denotes |
The ~48% UV-UDS value presented in this study for XpdTTD/TTD cells differs from our previously published data of 25% UV-UDS [21], possibly because of the high variability intrinsic to the assay or routine variations in the cell culture conditions. |
T6666 |
33481-33484 |
DT |
denotes |
The |
T6668 |
33485-33486 |
SYM |
denotes |
~ |
T6669 |
33486-33488 |
CD |
denotes |
48 |
T6670 |
33488-33489 |
NN |
denotes |
% |
T6671 |
33490-33492 |
NN |
denotes |
UV |
T6673 |
33492-33493 |
HYPH |
denotes |
- |
T6672 |
33493-33496 |
NN |
denotes |
UDS |
T6667 |
33497-33502 |
NN |
denotes |
value |
T6675 |
33503-33512 |
VBN |
denotes |
presented |
T6676 |
33513-33515 |
IN |
denotes |
in |
T6677 |
33516-33520 |
DT |
denotes |
this |
T6678 |
33521-33526 |
NN |
denotes |
study |
T6679 |
33527-33530 |
IN |
denotes |
for |
T6680 |
33531-33537 |
NN |
denotes |
XpdTTD |
T6682 |
33537-33538 |
HYPH |
denotes |
/ |
T6681 |
33538-33541 |
NN |
denotes |
TTD |
T6683 |
33542-33547 |
NNS |
denotes |
cells |
T6674 |
33548-33555 |
VBZ |
denotes |
differs |
T6684 |
33556-33560 |
IN |
denotes |
from |
T6685 |
33561-33564 |
PRP$ |
denotes |
our |
T6687 |
33565-33575 |
RB |
denotes |
previously |
T6688 |
33576-33585 |
VBN |
denotes |
published |
T6686 |
33586-33590 |
NNS |
denotes |
data |
T6689 |
33591-33593 |
IN |
denotes |
of |
T6690 |
33594-33596 |
CD |
denotes |
25 |
T6691 |
33596-33597 |
NN |
denotes |
% |
T6693 |
33598-33600 |
NN |
denotes |
UV |
T6694 |
33600-33601 |
HYPH |
denotes |
- |
T6692 |
33601-33604 |
NN |
denotes |
UDS |
T6695 |
33605-33606 |
-LRB- |
denotes |
[ |
T6696 |
33606-33608 |
CD |
denotes |
21 |
T6697 |
33608-33609 |
-RRB- |
denotes |
] |
T6698 |
33609-33611 |
, |
denotes |
, |
T6699 |
33611-33619 |
RB |
denotes |
possibly |
T6700 |
33620-33627 |
IN |
denotes |
because |
T6701 |
33628-33630 |
IN |
denotes |
of |
T6702 |
33631-33634 |
DT |
denotes |
the |
T6704 |
33635-33639 |
JJ |
denotes |
high |
T6703 |
33640-33651 |
NN |
denotes |
variability |
T6705 |
33652-33661 |
JJ |
denotes |
intrinsic |
T6706 |
33662-33664 |
IN |
denotes |
to |
T6707 |
33665-33668 |
DT |
denotes |
the |
T6708 |
33669-33674 |
NN |
denotes |
assay |
T6709 |
33675-33677 |
CC |
denotes |
or |
T6710 |
33678-33685 |
JJ |
denotes |
routine |
T6711 |
33686-33696 |
NNS |
denotes |
variations |
T6712 |
33697-33699 |
IN |
denotes |
in |
T6713 |
33700-33703 |
DT |
denotes |
the |
T6715 |
33704-33708 |
NN |
denotes |
cell |
T6716 |
33709-33716 |
NN |
denotes |
culture |
T6714 |
33717-33727 |
NNS |
denotes |
conditions |
T6717 |
33727-33728 |
. |
denotes |
. |
T6718 |
33728-33843 |
sentence |
denotes |
For the incision/excision activity assay, recombinant TFIIH was prepared and assayed as described previously [27]. |
T6719 |
33729-33732 |
IN |
denotes |
For |
T6721 |
33733-33736 |
DT |
denotes |
the |
T6723 |
33737-33745 |
NN |
denotes |
incision |
T6725 |
33745-33746 |
HYPH |
denotes |
/ |
T6724 |
33746-33754 |
NN |
denotes |
excision |
T6726 |
33755-33763 |
NN |
denotes |
activity |
T6722 |
33764-33769 |
NN |
denotes |
assay |
T6727 |
33769-33771 |
, |
denotes |
, |
T6728 |
33771-33782 |
JJ |
denotes |
recombinant |
T6729 |
33783-33788 |
NN |
denotes |
TFIIH |
T6730 |
33789-33792 |
VBD |
denotes |
was |
T6720 |
33793-33801 |
VBN |
denotes |
prepared |
T6731 |
33802-33805 |
CC |
denotes |
and |
T6732 |
33806-33813 |
VBN |
denotes |
assayed |
T6733 |
33814-33816 |
IN |
denotes |
as |
T6734 |
33817-33826 |
VBN |
denotes |
described |
T6735 |
33827-33837 |
RB |
denotes |
previously |
T6736 |
33838-33839 |
-LRB- |
denotes |
[ |
T6737 |
33839-33841 |
CD |
denotes |
27 |
T6738 |
33841-33842 |
-RRB- |
denotes |
] |
T6739 |
33842-33843 |
. |
denotes |
. |
T6770 |
33845-33856 |
JJ |
denotes |
Comparative |
T6771 |
33857-33875 |
NN |
denotes |
immunofluorescence |
T6772 |
33875-33876 |
. |
denotes |
. |
T6773 |
33876-34078 |
sentence |
denotes |
Latex bead labelling and comparative immunofluorescence analysis of the p62 subunit of the TFIIH was performed as described previously [16,17] using primary mouse embryonic fibroblasts at passages 2–5. |
T6774 |
33877-33882 |
NN |
denotes |
Latex |
T6776 |
33883-33887 |
NN |
denotes |
bead |
T6775 |
33888-33897 |
NN |
denotes |
labelling |
T6778 |
33898-33901 |
CC |
denotes |
and |
T6779 |
33902-33913 |
JJ |
denotes |
comparative |
T6781 |
33914-33932 |
NN |
denotes |
immunofluorescence |
T6780 |
33933-33941 |
NN |
denotes |
analysis |
T6782 |
33942-33944 |
IN |
denotes |
of |
T6783 |
33945-33948 |
DT |
denotes |
the |
T6785 |
33949-33952 |
NN |
denotes |
p62 |
T6784 |
33953-33960 |
NN |
denotes |
subunit |
T6786 |
33961-33963 |
IN |
denotes |
of |
T6787 |
33964-33967 |
DT |
denotes |
the |
T6788 |
33968-33973 |
NN |
denotes |
TFIIH |
T6789 |
33974-33977 |
VBD |
denotes |
was |
T6777 |
33978-33987 |
VBN |
denotes |
performed |
T6790 |
33988-33990 |
IN |
denotes |
as |
T6791 |
33991-34000 |
VBN |
denotes |
described |
T6792 |
34001-34011 |
RB |
denotes |
previously |
T6793 |
34012-34013 |
-LRB- |
denotes |
[ |
T6795 |
34013-34015 |
CD |
denotes |
16 |
T6796 |
34015-34016 |
, |
denotes |
, |
T6794 |
34016-34018 |
CD |
denotes |
17 |
T6797 |
34018-34019 |
-RRB- |
denotes |
] |
T6798 |
34020-34025 |
VBG |
denotes |
using |
T6799 |
34026-34033 |
JJ |
denotes |
primary |
T6801 |
34034-34039 |
NN |
denotes |
mouse |
T6802 |
34040-34049 |
JJ |
denotes |
embryonic |
T6800 |
34050-34061 |
NNS |
denotes |
fibroblasts |
T6803 |
34062-34064 |
IN |
denotes |
at |
T6804 |
34065-34073 |
NNS |
denotes |
passages |
T6805 |
34074-34075 |
CD |
denotes |
2 |
T6806 |
34075-34076 |
SYM |
denotes |
– |
T6807 |
34076-34077 |
CD |
denotes |
5 |
T6808 |
34077-34078 |
. |
denotes |
. |
T6809 |
34078-34275 |
sentence |
denotes |
Two or more cell lines per genotype (except for the XpdTTD/†XP cells, in which only one cell line was used in repeated experiments) were used, and experiments were repeated 2–6 times per genotype. |
T6810 |
34079-34082 |
CD |
denotes |
Two |
T6812 |
34083-34085 |
CC |
denotes |
or |
T6813 |
34086-34090 |
JJR |
denotes |
more |
T6814 |
34091-34095 |
NN |
denotes |
cell |
T6811 |
34096-34101 |
NNS |
denotes |
lines |
T6816 |
34102-34105 |
IN |
denotes |
per |
T6817 |
34106-34114 |
NN |
denotes |
genotype |
T6818 |
34115-34116 |
-LRB- |
denotes |
( |
T6819 |
34116-34122 |
IN |
denotes |
except |
T6820 |
34123-34126 |
IN |
denotes |
for |
T6821 |
34127-34130 |
DT |
denotes |
the |
T6823 |
34131-34137 |
NN |
denotes |
XpdTTD |
T6825 |
34137-34138 |
HYPH |
denotes |
/ |
T6824 |
34138-34141 |
NN |
denotes |
†XP |
T6822 |
34142-34147 |
NNS |
denotes |
cells |
T6826 |
34147-34149 |
, |
denotes |
, |
T6827 |
34149-34151 |
IN |
denotes |
in |
T6829 |
34152-34157 |
WDT |
denotes |
which |
T6830 |
34158-34162 |
RB |
denotes |
only |
T6832 |
34163-34166 |
CD |
denotes |
one |
T6833 |
34167-34171 |
NN |
denotes |
cell |
T6831 |
34172-34176 |
NN |
denotes |
line |
T6834 |
34177-34180 |
VBD |
denotes |
was |
T6828 |
34181-34185 |
VBN |
denotes |
used |
T6835 |
34186-34188 |
IN |
denotes |
in |
T6836 |
34189-34197 |
VBN |
denotes |
repeated |
T6837 |
34198-34209 |
NNS |
denotes |
experiments |
T6838 |
34209-34210 |
-RRB- |
denotes |
) |
T6839 |
34211-34215 |
VBD |
denotes |
were |
T6815 |
34216-34220 |
VBN |
denotes |
used |
T6840 |
34220-34222 |
, |
denotes |
, |
T6841 |
34222-34225 |
CC |
denotes |
and |
T6842 |
34226-34237 |
NNS |
denotes |
experiments |
T6844 |
34238-34242 |
VBD |
denotes |
were |
T6843 |
34243-34251 |
VBN |
denotes |
repeated |
T6845 |
34252-34253 |
CD |
denotes |
2 |
T6847 |
34253-34254 |
HYPH |
denotes |
– |
T6846 |
34254-34255 |
CD |
denotes |
6 |
T6848 |
34256-34261 |
NNS |
denotes |
times |
T6849 |
34262-34265 |
IN |
denotes |
per |
T6850 |
34266-34274 |
NN |
denotes |
genotype |
T6851 |
34274-34275 |
. |
denotes |
. |
R1000 |
T1496 |
T1497 |
mark |
Because,was |
R1001 |
T1497 |
T1500 |
advcl |
was,expected |
R1002 |
T1498 |
T1499 |
compound |
patient,XPCS2 |
R1003 |
T1499 |
T1497 |
nsubj |
XPCS2,was |
R1004 |
T1501 |
T1502 |
det |
a,hemizygote |
R1005 |
T1502 |
T1497 |
attr |
hemizygote,was |
R1006 |
T1503 |
T1502 |
prep |
with,hemizygote |
R1007 |
T1504 |
T1505 |
amod |
mutant,protein |
R1008 |
T1505 |
T1503 |
pobj |
protein,with |
R1009 |
T1506 |
T1505 |
compound |
XPD,protein |
R1010 |
T1507 |
T1508 |
punct |
(,XPDG602D |
R1011 |
T1508 |
T1505 |
parataxis |
XPDG602D,protein |
R1012 |
T1509 |
T1508 |
punct |
),XPDG602D |
R1013 |
T1510 |
T1505 |
acl |
expressed,protein |
R1014 |
T1511 |
T1510 |
prep |
from,expressed |
R1015 |
T1512 |
T1513 |
det |
a,allele |
R1016 |
T1513 |
T1511 |
pobj |
allele,from |
R1017 |
T1514 |
T1513 |
amod |
single,allele |
R1018 |
T1515 |
T1500 |
punct |
", ",expected |
R1019 |
T1516 |
T1517 |
det |
the,mutation |
R1020 |
T1517 |
T1500 |
nsubjpass |
mutation,expected |
R1021 |
T1518 |
T1517 |
amod |
corresponding,mutation |
R1022 |
T1519 |
T1500 |
auxpass |
was,expected |
R1023 |
T1520 |
T1521 |
aux |
to,be |
R1024 |
T1521 |
T1500 |
xcomp |
be,expected |
R1025 |
T1522 |
T1521 |
acomp |
viable,be |
R1026 |
T1523 |
T1521 |
prep |
in,be |
R1027 |
T1524 |
T1525 |
det |
the,state |
R1028 |
T1525 |
T1523 |
pobj |
state,in |
R1029 |
T1526 |
T1525 |
amod |
homozygous,state |
R1030 |
T1527 |
T1500 |
punct |
.,expected |
R1031 |
T1529 |
T1530 |
advmod |
However,observed |
R1032 |
T1531 |
T1530 |
punct |
", ",observed |
R1033 |
T1532 |
T1533 |
amod |
homozygous,mice |
R1034 |
T1533 |
T1530 |
nsubjpass |
mice,observed |
R1035 |
T1534 |
T1533 |
amod |
mutant,mice |
R1036 |
T1535 |
T1530 |
auxpass |
were,observed |
R1037 |
T1536 |
T1530 |
neg |
not,observed |
R1038 |
T1537 |
T1530 |
punct |
", ",observed |
R1039 |
T1538 |
T1539 |
preconj |
neither,amongst |
R1040 |
T1539 |
T1530 |
prep |
amongst,observed |
R1041 |
T1540 |
T1541 |
amod |
live,births |
R1042 |
T1541 |
T1539 |
pobj |
births,amongst |
R1043 |
T1542 |
T1541 |
cc |
nor,births |
R1044 |
T1543 |
T1544 |
amod |
embryonic,day |
R1045 |
T1544 |
T1545 |
nmod |
day,embryos |
R1046 |
T1545 |
T1541 |
conj |
embryos,births |
R1047 |
T1546 |
T1544 |
nummod |
13.5,day |
R1048 |
T1547 |
T1544 |
punct |
(,day |
R1049 |
T1548 |
T1544 |
appos |
E13.5,day |
R1050 |
T1549 |
T1544 |
punct |
),day |
R1051 |
T1550 |
T1544 |
cc |
or,day |
R1052 |
T1551 |
T1544 |
conj |
E3.5,day |
R1053 |
T1552 |
T1553 |
punct |
(,Table |
R1054 |
T1553 |
T1530 |
parataxis |
Table,observed |
R1055 |
T1554 |
T1553 |
nummod |
1,Table |
R1056 |
T1555 |
T1553 |
punct |
),Table |
R1057 |
T1556 |
T1530 |
punct |
.,observed |
R1058 |
T1558 |
T1559 |
det |
The,allele |
R1059 |
T1559 |
T1564 |
nsubjpass |
allele,designated |
R1060 |
T1560 |
T1559 |
amod |
corresponding,allele |
R1061 |
T1561 |
T1559 |
amod |
hypomorphic,allele |
R1062 |
T1562 |
T1559 |
punct |
", ",allele |
R1063 |
T1563 |
T1559 |
amod |
mutant,allele |
R1064 |
T1565 |
T1564 |
auxpass |
was,designated |
R1065 |
T1566 |
T1564 |
advmod |
thus,designated |
R1066 |
T1567 |
T1564 |
prep |
as,designated |
R1067 |
T1568 |
T1569 |
amod |
homozygous,lethal |
R1068 |
T1569 |
T1567 |
pobj |
lethal,as |
R1069 |
T1570 |
T1571 |
punct |
(,†XPCS |
R1070 |
T1571 |
T1569 |
parataxis |
†XPCS,lethal |
R1071 |
T1572 |
T1571 |
punct |
),†XPCS |
R1072 |
T1573 |
T1564 |
punct |
.,designated |
R1073 |
T1575 |
T1576 |
amod |
Homozygous,lethality |
R1074 |
T1576 |
T1577 |
nsubj |
lethality,is |
R1075 |
T1578 |
T1576 |
prep |
of,lethality |
R1076 |
T1579 |
T1580 |
det |
the,allele |
R1077 |
T1580 |
T1578 |
pobj |
allele,of |
R1078 |
T1581 |
T1580 |
compound |
XPCS,allele |
R1079 |
T1582 |
T1583 |
advmod |
likely,due |
R1080 |
T1583 |
T1577 |
prep |
due,is |
R1081 |
T1584 |
T1583 |
prep |
to,due |
R1082 |
T1585 |
T1586 |
amod |
reduced,levels |
R1083 |
T1586 |
T1584 |
pobj |
levels,to |
R1084 |
T1587 |
T1586 |
prep |
of,levels |
R1085 |
T1588 |
T1587 |
pobj |
expression,of |
R1086 |
T1589 |
T1588 |
prep |
of,expression |
R1087 |
T1590 |
T1591 |
det |
this,protein |
R1088 |
T1591 |
T1589 |
pobj |
protein,of |
R1089 |
T1592 |
T1591 |
amod |
essential,protein |
R1090 |
T1593 |
T1586 |
prep |
as,levels |
R1091 |
T1594 |
T1595 |
det |
a,result |
R1092 |
T1595 |
T1593 |
pobj |
result,as |
R1093 |
T1596 |
T1595 |
prep |
of,result |
R1094 |
T1597 |
T1598 |
compound |
gene,targeting |
R1095 |
T1598 |
T1596 |
pobj |
targeting,of |
R1096 |
T1599 |
T1600 |
punct |
(,1A |
R1097 |
T1600 |
T1598 |
parataxis |
1A,targeting |
R1098 |
T1601 |
T1600 |
compound |
Figure,1A |
R1099 |
T1602 |
T1600 |
punct |
),1A |
R1100 |
T1603 |
T1604 |
amod |
rather,than |
R1101 |
T1604 |
T1584 |
cc |
than,to |
R1102 |
T1605 |
T1584 |
conj |
to,to |
R1103 |
T1606 |
T1607 |
det |
the,mutation |
R1104 |
T1607 |
T1605 |
pobj |
mutation,to |
R1105 |
T1608 |
T1607 |
appos |
itself,mutation |
R1106 |
T1609 |
T1577 |
punct |
.,is |
R1107 |
T1611 |
T1612 |
compound |
Xpd,ablation |
R1108 |
T1612 |
T1613 |
nsubj |
ablation,is |
R1109 |
T1614 |
T1615 |
punct |
(,KO |
R1110 |
T1615 |
T1612 |
parataxis |
KO,ablation |
R1111 |
T1616 |
T1615 |
compound |
XpdKO,KO |
R1112 |
T1617 |
T1615 |
punct |
/,KO |
R1113 |
T1618 |
T1615 |
punct |
),KO |
R1114 |
T1619 |
T1620 |
advmod |
similarly,incompatible |
R1115 |
T1620 |
T1613 |
acomp |
incompatible,is |
R1116 |
T1621 |
T1620 |
prep |
with,incompatible |
R1117 |
T1622 |
T1621 |
pobj |
life,with |
R1118 |
T1623 |
T1622 |
prep |
beyond,life |
R1119 |
T1624 |
T1625 |
det |
the,stages |
R1120 |
T1625 |
T1623 |
pobj |
stages,beyond |
R1121 |
T1626 |
T1625 |
amod |
earliest,stages |
R1122 |
T1627 |
T1625 |
prep |
of,stages |
R1123 |
T1628 |
T1627 |
pobj |
embryogenesis,of |
R1124 |
T1629 |
T1630 |
punct |
[,22 |
R1125 |
T1630 |
T1613 |
parataxis |
22,is |
R1126 |
T1631 |
T1630 |
punct |
],22 |
R1127 |
T1632 |
T1613 |
punct |
.,is |
R1128 |
T1634 |
T1635 |
advcl |
Consistent,was |
R1129 |
T1636 |
T1634 |
prep |
with,Consistent |
R1130 |
T1637 |
T1638 |
det |
this,interpretation |
R1131 |
T1638 |
T1636 |
pobj |
interpretation,with |
R1132 |
T1639 |
T1635 |
punct |
", ",was |
R1133 |
T1640 |
T1641 |
det |
a,mutation |
R1134 |
T1641 |
T1635 |
nsubj |
mutation,was |
R1135 |
T1642 |
T1641 |
amod |
different,mutation |
R1136 |
T1643 |
T1641 |
amod |
targeted,mutation |
R1137 |
T1644 |
T1641 |
compound |
Xpd,mutation |
R1138 |
T1645 |
T1641 |
acl |
encoding,mutation |
R1139 |
T1646 |
T1645 |
dobj |
XPDR683W,encoding |
R1140 |
T1647 |
T1646 |
punct |
", ",XPDR683W |
R1141 |
T1648 |
T1649 |
dep |
which,associated |
R1142 |
T1649 |
T1646 |
relcl |
associated,XPDR683W |
R1143 |
T1650 |
T1649 |
auxpass |
is,associated |
R1144 |
T1651 |
T1649 |
prep |
with,associated |
R1145 |
T1652 |
T1651 |
pobj |
XP,with |
R1146 |
T1653 |
T1649 |
prep |
in,associated |
R1147 |
T1654 |
T1655 |
det |
the,state |
R1148 |
T1655 |
T1653 |
pobj |
state,in |
R1149 |
T1656 |
T1655 |
amod |
homozygous,state |
R1150 |
T1657 |
T1649 |
prep |
in,associated |
R1151 |
T1658 |
T1657 |
pobj |
humans,in |
R1152 |
T1659 |
T1635 |
punct |
", ",was |
R1153 |
T1660 |
T1661 |
advmod |
similarly,underexpressed |
R1154 |
T1661 |
T1635 |
acomp |
underexpressed,was |
R1155 |
T1662 |
T1661 |
cc |
and,underexpressed |
R1156 |
T1663 |
T1661 |
conj |
lethal,underexpressed |
R1157 |
T1664 |
T1635 |
prep |
in,was |
R1158 |
T1665 |
T1666 |
det |
the,state |
R1159 |
T1666 |
T1664 |
pobj |
state,in |
R1160 |
T1667 |
T1666 |
amod |
homozygous,state |
R1161 |
T1668 |
T1669 |
punct |
(,designated |
R1162 |
T1669 |
T1635 |
parataxis |
designated,was |
R1163 |
T1670 |
T1669 |
prep |
as,designated |
R1164 |
T1671 |
T1672 |
compound |
†XP,allele |
R1165 |
T1672 |
T1670 |
pobj |
allele,as |
R1166 |
T1673 |
T1669 |
punct |
),designated |
R1167 |
T1674 |
T1675 |
punct |
(,1A |
R1168 |
T1675 |
T1635 |
parataxis |
1A,was |
R1169 |
T1676 |
T1675 |
compound |
Figure,1A |
R1170 |
T1677 |
T1678 |
punct |
–,1C |
R1171 |
T1678 |
T1675 |
prep |
1C,1A |
R1172 |
T1679 |
T1675 |
punct |
;,1A |
R1173 |
T1680 |
T1675 |
appos |
Table,1A |
R1174 |
T1681 |
T1680 |
nummod |
1,Table |
R1175 |
T1682 |
T1675 |
punct |
;,1A |
R1176 |
T1683 |
T1684 |
amod |
unpublished,data |
R1177 |
T1684 |
T1675 |
appos |
data,1A |
R1178 |
T1685 |
T1675 |
punct |
),1A |
R1179 |
T1686 |
T1635 |
punct |
.,was |
R1180 |
T1688 |
T1689 |
advmod |
Also,resulted |
R1181 |
T1690 |
T1689 |
punct |
", ",resulted |
R1182 |
T1691 |
T1692 |
det |
a,approach |
R1183 |
T1692 |
T1689 |
nsubj |
approach,resulted |
R1184 |
T1693 |
T1692 |
amod |
different,approach |
R1185 |
T1694 |
T1692 |
compound |
targeting,approach |
R1186 |
T1695 |
T1692 |
acl |
leading,approach |
R1187 |
T1696 |
T1695 |
prep |
to,leading |
R1188 |
T1697 |
T1698 |
det |
the,use |
R1189 |
T1698 |
T1696 |
pobj |
use,to |
R1190 |
T1699 |
T1698 |
prep |
of,use |
R1191 |
T1700 |
T1701 |
det |
the,UTR |
R1192 |
T1701 |
T1699 |
pobj |
UTR,of |
R1193 |
T1702 |
T1701 |
amod |
native,UTR |
R1194 |
T1703 |
T1701 |
nummod |
3,UTR |
R1195 |
T1704 |
T1703 |
punct |
′,3 |
R1196 |
T1705 |
T1698 |
cc |
and,use |
R1197 |
T1706 |
T1698 |
conj |
removal,use |
R1198 |
T1707 |
T1706 |
prep |
of,removal |
R1199 |
T1708 |
T1709 |
det |
the,gene |
R1200 |
T1709 |
T1707 |
pobj |
gene,of |
R1201 |
T1710 |
T1709 |
compound |
neo,gene |
R1202 |
T1711 |
T1689 |
prep |
in,resulted |
R1203 |
T1712 |
T1711 |
pobj |
normalisation,in |
R1204 |
T1713 |
T1712 |
prep |
of,normalisation |
R1205 |
T1714 |
T1715 |
compound |
XpdXPCS,levels |
R1206 |
T1715 |
T1713 |
pobj |
levels,of |
R1207 |
T1716 |
T1715 |
compound |
mRNA,levels |
R1208 |
T1717 |
T1712 |
cc |
and,normalisation |
R1209 |
T1718 |
T1719 |
amod |
viable,animals |
R1210 |
T1719 |
T1712 |
conj |
animals,normalisation |
R1211 |
T1720 |
T1719 |
amod |
homozygous,animals |
R1212 |
T1721 |
T1722 |
nmod |
XpdXPCS,XPCS |
R1213 |
T1722 |
T1719 |
nmod |
XPCS,animals |
R1214 |
T1723 |
T1722 |
punct |
/,XPCS |
R1215 |
T1724 |
T1725 |
punct |
(,G602D |
R1216 |
T1725 |
T1722 |
parataxis |
G602D,XPCS |
R1217 |
T1726 |
T1725 |
compound |
XPDG602D,G602D |
R1218 |
T1727 |
T1725 |
punct |
/,G602D |
R1219 |
T1728 |
T1725 |
punct |
),G602D |
R1220 |
T1729 |
T1730 |
punct |
[,23 |
R1221 |
T1730 |
T1689 |
parataxis |
23,resulted |
R1222 |
T1731 |
T1730 |
punct |
],23 |
R1223 |
T1732 |
T1689 |
punct |
.,resulted |
R1226 |
T1954 |
T1955 |
punct |
“,Allele |
R1227 |
T1955 |
T1958 |
nsubj |
Allele,Alleviate |
R1228 |
T1956 |
T1955 |
amod |
Null,Allele |
R1229 |
T1957 |
T1955 |
punct |
”,Allele |
R1230 |
T1959 |
T1958 |
aux |
Can,Alleviate |
R1231 |
T1960 |
T1961 |
amod |
Developmental,Delay |
R1232 |
T1961 |
T1958 |
dobj |
Delay,Alleviate |
R1233 |
T1962 |
T1961 |
punct |
", ",Delay |
R1234 |
T1963 |
T1964 |
nmod |
Skin,Features |
R1235 |
T1964 |
T1961 |
appos |
Features,Delay |
R1236 |
T1965 |
T1963 |
punct |
", ",Skin |
R1237 |
T1966 |
T1963 |
cc |
and,Skin |
R1238 |
T1967 |
T1963 |
conj |
Hair,Skin |
R1239 |
T1968 |
T1964 |
prep |
of,Features |
R1240 |
T1969 |
T1968 |
pobj |
TTD,of |
R1241 |
T1971 |
T1972 |
aux |
To,test |
R1242 |
T1972 |
T1973 |
advcl |
test,combined |
R1243 |
T1974 |
T1975 |
det |
the,potential |
R1244 |
T1975 |
T1972 |
dobj |
potential,test |
R1245 |
T1976 |
T1975 |
prep |
of,potential |
R1246 |
T1977 |
T1978 |
det |
a,allele |
R1247 |
T1978 |
T1976 |
pobj |
allele,of |
R1248 |
T1979 |
T1978 |
amod |
homozygous,allele |
R1249 |
T1980 |
T1978 |
amod |
lethal,allele |
R1250 |
T1981 |
T1978 |
punct |
“,allele |
R1251 |
T1982 |
T1978 |
amod |
null,allele |
R1252 |
T1983 |
T1978 |
punct |
”,allele |
R1253 |
T1984 |
T1985 |
aux |
to,contribute |
R1254 |
T1985 |
T1975 |
acl |
contribute,potential |
R1255 |
T1986 |
T1985 |
advmod |
nevertheless,contribute |
R1256 |
T1987 |
T1985 |
prep |
to,contribute |
R1257 |
T1988 |
T1989 |
amod |
organismal,phenotype |
R1258 |
T1989 |
T1987 |
pobj |
phenotype,to |
R1259 |
T1990 |
T1973 |
punct |
", ",combined |
R1260 |
T1991 |
T1973 |
nsubj |
we,combined |
R1261 |
T1992 |
T1993 |
det |
an,allele |
R1262 |
T1993 |
T1973 |
dobj |
allele,combined |
R1263 |
T1994 |
T1993 |
compound |
Xpd†XPCS,allele |
R1264 |
T1995 |
T1993 |
prep |
with,allele |
R1265 |
T1996 |
T1997 |
det |
a,allele |
R1266 |
T1997 |
T1995 |
pobj |
allele,with |
R1267 |
T1998 |
T1997 |
amod |
viable,allele |
R1268 |
T1999 |
T1997 |
compound |
XpdTTD,allele |
R1269 |
T2000 |
T1973 |
prep |
by,combined |
R1270 |
T2001 |
T2000 |
pcomp |
crossing,by |
R1271 |
T2002 |
T2003 |
det |
the,animals |
R1272 |
T2003 |
T2001 |
dobj |
animals,crossing |
R1273 |
T2004 |
T2003 |
amod |
corresponding,animals |
R1274 |
T2005 |
T2003 |
amod |
heterozygous,animals |
R1275 |
T2006 |
T1973 |
punct |
.,combined |
R1276 |
T2008 |
T2009 |
advcl |
Similar,born |
R1277 |
T2010 |
T2008 |
prep |
to,Similar |
R1278 |
T2011 |
T2012 |
amod |
hemizygous,mice |
R1279 |
T2012 |
T2010 |
pobj |
mice,to |
R1280 |
T2013 |
T2012 |
compound |
TTD,mice |
R1281 |
T2014 |
T2012 |
acl |
carrying,mice |
R1282 |
T2015 |
T2016 |
nummod |
one,allele |
R1283 |
T2016 |
T2014 |
dobj |
allele,carrying |
R1284 |
T2017 |
T2016 |
amod |
true,allele |
R1285 |
T2018 |
T2019 |
compound |
Xpd,knockout |
R1286 |
T2019 |
T2016 |
compound |
knockout,allele |
R1287 |
T2020 |
T2021 |
punct |
(,KO |
R1288 |
T2021 |
T2016 |
parataxis |
KO,allele |
R1289 |
T2022 |
T2021 |
compound |
XpdTTD,KO |
R1290 |
T2023 |
T2021 |
punct |
/,KO |
R1291 |
T2024 |
T2021 |
punct |
),KO |
R1292 |
T2025 |
T2009 |
punct |
", ",born |
R1293 |
T2026 |
T2027 |
nmod |
compound,mice |
R1294 |
T2027 |
T2009 |
nsubjpass |
mice,born |
R1295 |
T2028 |
T2027 |
amod |
heterozygous,mice |
R1296 |
T2029 |
T2030 |
compound |
XpdTTD,†XPCS |
R1297 |
T2030 |
T2027 |
compound |
†XPCS,mice |
R1298 |
T2031 |
T2030 |
punct |
/,†XPCS |
R1299 |
T2032 |
T2009 |
auxpass |
were,born |
R1300 |
T2033 |
T2009 |
prep |
at,born |
R1301 |
T2034 |
T2035 |
det |
the,frequencies |
R1302 |
T2035 |
T2033 |
pobj |
frequencies,at |
R1303 |
T2036 |
T2035 |
amod |
expected,frequencies |
R1304 |
T2037 |
T2035 |
amod |
Mendelian,frequencies |
R1305 |
T2038 |
T2009 |
punct |
.,born |
R1306 |
T2040 |
T2041 |
nsubjpass |
Expression,reduced |
R1307 |
T2042 |
T2040 |
prep |
from,Expression |
R1308 |
T2043 |
T2044 |
det |
the,allele |
R1309 |
T2044 |
T2042 |
pobj |
allele,from |
R1310 |
T2045 |
T2044 |
compound |
Xpd†XPCS,allele |
R1311 |
T2046 |
T2041 |
auxpass |
was,reduced |
R1312 |
T2047 |
T2041 |
advmod |
also,reduced |
R1313 |
T2048 |
T2041 |
prep |
in,reduced |
R1314 |
T2049 |
T2050 |
det |
the,testis |
R1315 |
T2050 |
T2048 |
pobj |
testis,in |
R1316 |
T2051 |
T2050 |
prep |
of,testis |
R1317 |
T2052 |
T2053 |
nmod |
compound,animals |
R1318 |
T2053 |
T2051 |
pobj |
animals,of |
R1319 |
T2054 |
T2053 |
amod |
heterozygous,animals |
R1320 |
T2055 |
T2041 |
punct |
", ",reduced |
R1321 |
T2056 |
T2057 |
mark |
whereas,increased |
R1322 |
T2057 |
T2041 |
advcl |
increased,reduced |
R1323 |
T2058 |
T2057 |
nsubjpass |
expression,increased |
R1324 |
T2059 |
T2058 |
prep |
from,expression |
R1325 |
T2060 |
T2061 |
det |
the,allele |
R1326 |
T2061 |
T2059 |
pobj |
allele,from |
R1327 |
T2062 |
T2061 |
compound |
XpdTTD,allele |
R1328 |
T2063 |
T2057 |
auxpass |
was,increased |
R1329 |
T2064 |
T2057 |
advcl |
relative,increased |
R1330 |
T2065 |
T2064 |
prep |
to,relative |
R1331 |
T2066 |
T2065 |
pobj |
wt,to |
R1332 |
T2067 |
T2057 |
prep |
by,increased |
R1333 |
T2068 |
T2069 |
punct |
~,5-fold |
R1334 |
T2069 |
T2067 |
pobj |
5-fold,by |
R1335 |
T2070 |
T2071 |
punct |
(,1E |
R1336 |
T2071 |
T2057 |
parataxis |
1E,increased |
R1337 |
T2072 |
T2071 |
compound |
Figure,1E |
R1338 |
T2073 |
T2071 |
punct |
),1E |
R1339 |
T2074 |
T2041 |
punct |
.,reduced |
R1340 |
T2076 |
T2077 |
prep |
Because,were |
R1341 |
T2078 |
T2076 |
pcomp |
of,Because |
R1342 |
T2079 |
T2080 |
det |
a,lack |
R1343 |
T2080 |
T2076 |
pobj |
lack,Because |
R1344 |
T2081 |
T2080 |
prep |
of,lack |
R1345 |
T2082 |
T2083 |
amod |
available,antibodies |
R1346 |
T2083 |
T2081 |
pobj |
antibodies,of |
R1347 |
T2084 |
T2083 |
cc |
and,antibodies |
R1348 |
T2085 |
T2086 |
det |
the,inability |
R1349 |
T2086 |
T2083 |
conj |
inability,antibodies |
R1350 |
T2087 |
T2088 |
aux |
to,distinguish |
R1351 |
T2088 |
T2086 |
acl |
distinguish,inability |
R1352 |
T2089 |
T2088 |
prep |
amongst,distinguish |
R1353 |
T2090 |
T2091 |
amod |
various,forms |
R1354 |
T2091 |
T2089 |
pobj |
forms,amongst |
R1355 |
T2092 |
T2091 |
amod |
mutant,forms |
R1356 |
T2093 |
T2091 |
prep |
of,forms |
R1357 |
T2094 |
T2093 |
pobj |
XPD,of |
R1358 |
T2095 |
T2091 |
acl |
differing,forms |
R1359 |
T2096 |
T2095 |
advmod |
only,differing |
R1360 |
T2097 |
T2095 |
prep |
by,differing |
R1361 |
T2098 |
T2099 |
amod |
single,substitutions |
R1362 |
T2099 |
T2097 |
pobj |
substitutions,by |
R1363 |
T2100 |
T2101 |
compound |
amino,acid |
R1364 |
T2101 |
T2099 |
compound |
acid,substitutions |
R1365 |
T2102 |
T2077 |
punct |
", ",were |
R1366 |
T2103 |
T2077 |
nsubj |
we,were |
R1367 |
T2104 |
T2077 |
acomp |
unable,were |
R1368 |
T2105 |
T2106 |
aux |
to,ascertain |
R1369 |
T2106 |
T2104 |
xcomp |
ascertain,unable |
R1370 |
T2107 |
T2108 |
det |
the,amount |
R1371 |
T2108 |
T2106 |
dobj |
amount,ascertain |
R1372 |
T2109 |
T2108 |
amod |
relative,amount |
R1373 |
T2110 |
T2108 |
prep |
of,amount |
R1374 |
T2111 |
T2112 |
compound |
XPD,protein |
R1375 |
T2112 |
T2110 |
pobj |
protein,of |
R1376 |
T2113 |
T2112 |
prep |
from,protein |
R1377 |
T2114 |
T2115 |
det |
the,alleles |
R1378 |
T2115 |
T2113 |
pobj |
alleles,from |
R1379 |
T2116 |
T2115 |
amod |
different,alleles |
R1380 |
T2117 |
T2077 |
punct |
.,were |
R1381 |
T2119 |
T2120 |
prep |
Despite,ameliorated |
R1382 |
T2121 |
T2122 |
amod |
reduced,levels |
R1383 |
T2122 |
T2119 |
pobj |
levels,Despite |
R1384 |
T2123 |
T2122 |
prep |
of,levels |
R1385 |
T2124 |
T2125 |
compound |
mRNA,expression |
R1386 |
T2125 |
T2123 |
pobj |
expression,of |
R1387 |
T2126 |
T2120 |
punct |
", ",ameliorated |
R1388 |
T2127 |
T2128 |
det |
the,allele |
R1389 |
T2128 |
T2120 |
nsubj |
allele,ameliorated |
R1390 |
T2129 |
T2128 |
amod |
homozygous,allele |
R1391 |
T2130 |
T2128 |
amod |
lethal,allele |
R1392 |
T2131 |
T2128 |
compound |
Xpd†XPCS,allele |
R1393 |
T2132 |
T2133 |
amod |
multiple,symptoms |
R1394 |
T2133 |
T2120 |
dobj |
symptoms,ameliorated |
R1395 |
T2134 |
T2135 |
npadvmod |
XpdTTD,associated |
R1396 |
T2135 |
T2133 |
amod |
associated,symptoms |
R1397 |
T2136 |
T2135 |
punct |
-,associated |
R1398 |
T2137 |
T2133 |
compound |
disease,symptoms |
R1399 |
T2138 |
T2120 |
prep |
in,ameliorated |
R1400 |
T2139 |
T2140 |
amod |
compound,animals |
R1401 |
T2140 |
T2138 |
pobj |
animals,in |
R1402 |
T2141 |
T2140 |
amod |
heterozygous,animals |
R1403 |
T2142 |
T2143 |
compound |
XpdTTD,†XPCS |
R1404 |
T2143 |
T2140 |
compound |
†XPCS,animals |
R1405 |
T2144 |
T2143 |
punct |
/,†XPCS |
R1406 |
T2145 |
T2120 |
prep |
including,ameliorated |
R1407 |
T2146 |
T2147 |
det |
the,hair |
R1408 |
T2147 |
T2145 |
pobj |
hair,including |
R1409 |
T2148 |
T2147 |
nmod |
hallmark,hair |
R1410 |
T2149 |
T2147 |
amod |
brittle,hair |
R1411 |
T2150 |
T2147 |
cc |
and,hair |
R1412 |
T2151 |
T2152 |
amod |
cutaneous,features |
R1413 |
T2152 |
T2147 |
conj |
features,hair |
R1414 |
T2153 |
T2154 |
advmod |
fully,penetrant |
R1415 |
T2154 |
T2147 |
amod |
penetrant,hair |
R1416 |
T2155 |
T2154 |
prep |
in,penetrant |
R1417 |
T2156 |
T2157 |
advmod |
homo,hemizygous |
R1418 |
T2157 |
T2160 |
amod |
hemizygous,mice |
R1419 |
T2158 |
T2157 |
punct |
-,hemizygous |
R1420 |
T2159 |
T2157 |
cc |
and,hemizygous |
R1421 |
T2160 |
T2155 |
pobj |
mice,in |
R1422 |
T2161 |
T2160 |
compound |
TTD,mice |
R1423 |
T2162 |
T2163 |
punct |
(,2A |
R1424 |
T2163 |
T2120 |
parataxis |
2A,ameliorated |
R1425 |
T2164 |
T2163 |
compound |
Figure,2A |
R1426 |
T2165 |
T2166 |
punct |
–,2C |
R1427 |
T2166 |
T2163 |
prep |
2C,2A |
R1428 |
T2167 |
T2163 |
punct |
),2A |
R1429 |
T2168 |
T2120 |
punct |
.,ameliorated |
R1430 |
T2170 |
T2171 |
prep |
In,displayed |
R1431 |
T2172 |
T2173 |
amod |
marked,contrast |
R1432 |
T2173 |
T2170 |
pobj |
contrast,In |
R1433 |
T2174 |
T2173 |
prep |
to,contrast |
R1434 |
T2175 |
T2176 |
nmod |
XpdTTD,TTD |
R1435 |
T2176 |
T2178 |
nmod |
TTD,mice |
R1436 |
T2177 |
T2176 |
punct |
/,TTD |
R1437 |
T2178 |
T2174 |
pobj |
mice,to |
R1438 |
T2179 |
T2176 |
punct |
(,TTD |
R1439 |
T2180 |
T2176 |
cc |
and,TTD |
R1440 |
T2181 |
T2182 |
compound |
XpdTTD,KO |
R1441 |
T2182 |
T2176 |
conj |
KO,TTD |
R1442 |
T2183 |
T2182 |
punct |
/,KO |
R1443 |
T2184 |
T2178 |
punct |
),mice |
R1444 |
T2185 |
T2178 |
punct |
", ",mice |
R1445 |
T2186 |
T2187 |
dep |
which,display |
R1446 |
T2187 |
T2178 |
relcl |
display,mice |
R1447 |
T2188 |
T2189 |
amod |
complete,loss |
R1448 |
T2189 |
T2187 |
dobj |
loss,display |
R1449 |
T2190 |
T2189 |
compound |
hair,loss |
R1450 |
T2191 |
T2189 |
prep |
in,loss |
R1451 |
T2192 |
T2193 |
det |
the,cycle |
R1452 |
T2193 |
T2191 |
pobj |
cycle,in |
R1453 |
T2194 |
T2193 |
amod |
first,cycle |
R1454 |
T2195 |
T2193 |
compound |
hair,cycle |
R1455 |
T2196 |
T2189 |
cc |
and,loss |
R1456 |
T2197 |
T2198 |
amod |
partial,loss |
R1457 |
T2198 |
T2189 |
conj |
loss,loss |
R1458 |
T2199 |
T2198 |
compound |
hair,loss |
R1459 |
T2200 |
T2198 |
prep |
in,loss |
R1460 |
T2201 |
T2202 |
amod |
subsequent,cycles |
R1461 |
T2202 |
T2200 |
pobj |
cycles,in |
R1462 |
T2203 |
T2187 |
prep |
throughout,display |
R1463 |
T2204 |
T2205 |
poss |
their,lives |
R1464 |
T2205 |
T2203 |
pobj |
lives,throughout |
R1465 |
T2206 |
T2207 |
punct |
[,21 |
R1466 |
T2207 |
T2187 |
parataxis |
21,display |
R1467 |
T2208 |
T2207 |
punct |
],21 |
R1468 |
T2209 |
T2171 |
punct |
", ",displayed |
R1469 |
T2210 |
T2211 |
nmod |
compound,mice |
R1470 |
T2211 |
T2171 |
nsubj |
mice,displayed |
R1471 |
T2212 |
T2211 |
amod |
heterozygous,mice |
R1472 |
T2213 |
T2211 |
compound |
XpdTTD/†XPCS,mice |
R1473 |
T2214 |
T2215 |
det |
some,loss |
R1474 |
T2215 |
T2171 |
dobj |
loss,displayed |
R1475 |
T2216 |
T2215 |
compound |
hair,loss |
R1476 |
T2217 |
T2218 |
advmod |
only,during |
R1477 |
T2218 |
T2171 |
prep |
during,displayed |
R1478 |
T2219 |
T2220 |
det |
the,cycle |
R1479 |
T2220 |
T2218 |
pobj |
cycle,during |
R1480 |
T2221 |
T2220 |
amod |
first,cycle |
R1481 |
T2222 |
T2220 |
compound |
hair,cycle |
R1482 |
T2223 |
T2218 |
cc |
and,during |
R1483 |
T2224 |
T2225 |
advmod |
only,locally |
R1484 |
T2225 |
T2226 |
advmod |
locally,at |
R1485 |
T2226 |
T2218 |
conj |
at,during |
R1486 |
T2227 |
T2228 |
det |
the,back |
R1487 |
T2228 |
T2226 |
pobj |
back,at |
R1488 |
T2229 |
T2230 |
punct |
(,2A |
R1489 |
T2230 |
T2171 |
parataxis |
2A,displayed |
R1490 |
T2231 |
T2230 |
compound |
Figure,2A |
R1491 |
T2232 |
T2230 |
punct |
),2A |
R1492 |
T2233 |
T2171 |
punct |
.,displayed |
R1493 |
T2235 |
T2236 |
compound |
Scanning,microscope |
R1494 |
T2236 |
T2238 |
compound |
microscope,analysis |
R1495 |
T2237 |
T2236 |
compound |
electron,microscope |
R1496 |
T2238 |
T2239 |
nsubj |
analysis,revealed |
R1497 |
T2240 |
T2238 |
prep |
of,analysis |
R1498 |
T2241 |
T2242 |
compound |
XpdTTD,†XPCS |
R1499 |
T2242 |
T2244 |
compound |
†XPCS,hair |
R1500 |
T2243 |
T2242 |
punct |
/,†XPCS |
R1501 |
T2244 |
T2240 |
pobj |
hair,of |
R1502 |
T2245 |
T2246 |
det |
an,appearance |
R1503 |
T2246 |
T2239 |
dobj |
appearance,revealed |
R1504 |
T2247 |
T2248 |
advmod |
almost,normal |
R1505 |
T2248 |
T2246 |
amod |
normal,appearance |
R1506 |
T2249 |
T2246 |
punct |
", ",appearance |
R1507 |
T2250 |
T2246 |
prep |
with,appearance |
R1508 |
T2251 |
T2252 |
npadvmod |
TTD,like |
R1509 |
T2252 |
T2254 |
amod |
like,features |
R1510 |
T2253 |
T2252 |
punct |
-,like |
R1511 |
T2254 |
T2250 |
pobj |
features,with |
R1512 |
T2255 |
T2256 |
amod |
such,as |
R1513 |
T2256 |
T2254 |
prep |
as,features |
R1514 |
T2257 |
T2258 |
amod |
broken,hairs |
R1515 |
T2258 |
T2256 |
pobj |
hairs,as |
R1516 |
T2259 |
T2254 |
acl |
found,features |
R1517 |
T2260 |
T2261 |
advmod |
only,at |
R1518 |
T2261 |
T2259 |
prep |
at,found |
R1519 |
T2262 |
T2263 |
advmod |
very,low |
R1520 |
T2263 |
T2264 |
amod |
low,frequency |
R1521 |
T2264 |
T2261 |
pobj |
frequency,at |
R1522 |
T2265 |
T2266 |
punct |
(,data |
R1523 |
T2266 |
T2239 |
parataxis |
data,revealed |
R1524 |
T2267 |
T2266 |
amod |
unpublished,data |
R1525 |
T2268 |
T2266 |
punct |
),data |
R1526 |
T2269 |
T2239 |
punct |
.,revealed |
R1527 |
T2271 |
T2272 |
compound |
Amino,acid |
R1528 |
T2272 |
T2273 |
compound |
acid,analysis |
R1529 |
T2273 |
T2274 |
nsubj |
analysis,confirmed |
R1530 |
T2275 |
T2276 |
mark |
that,were |
R1531 |
T2276 |
T2274 |
ccomp |
were,confirmed |
R1532 |
T2277 |
T2278 |
compound |
cysteine,levels |
R1533 |
T2278 |
T2276 |
nsubj |
levels,were |
R1534 |
T2279 |
T2278 |
prep |
in,levels |
R1535 |
T2280 |
T2281 |
det |
the,hair |
R1536 |
T2281 |
T2279 |
pobj |
hair,in |
R1537 |
T2282 |
T2281 |
prep |
of,hair |
R1538 |
T2283 |
T2284 |
det |
the,mice |
R1539 |
T2284 |
T2282 |
pobj |
mice,of |
R1540 |
T2285 |
T2286 |
compound |
XpdTTD,†XPCS |
R1541 |
T2286 |
T2284 |
compound |
†XPCS,mice |
R1542 |
T2287 |
T2286 |
punct |
/,†XPCS |
R1543 |
T2288 |
T2289 |
advmod |
significantly,higher |
R1544 |
T2289 |
T2276 |
acomp |
higher,were |
R1545 |
T2290 |
T2289 |
prep |
than,higher |
R1546 |
T2291 |
T2290 |
prep |
in,than |
R1547 |
T2292 |
T2293 |
compound |
XpdTTD,TTD |
R1548 |
T2293 |
T2295 |
compound |
TTD,animals |
R1549 |
T2294 |
T2293 |
punct |
/,TTD |
R1550 |
T2295 |
T2291 |
pobj |
animals,in |
R1551 |
T2296 |
T2276 |
punct |
", ",were |
R1552 |
T2297 |
T2276 |
cc |
but,were |
R1553 |
T2298 |
T2276 |
conj |
remained,were |
R1554 |
T2299 |
T2298 |
prep |
below,remained |
R1555 |
T2300 |
T2301 |
det |
the,level |
R1556 |
T2301 |
T2299 |
pobj |
level,below |
R1557 |
T2302 |
T2301 |
compound |
wt,level |
R1558 |
T2303 |
T2304 |
punct |
(,2C |
R1559 |
T2304 |
T2274 |
parataxis |
2C,confirmed |
R1560 |
T2305 |
T2304 |
compound |
Figure,2C |
R1561 |
T2306 |
T2304 |
punct |
),2C |
R1562 |
T2307 |
T2274 |
punct |
.,confirmed |
R1563 |
T2309 |
T2310 |
compound |
TTD,hemizygotes |
R1564 |
T2310 |
T2311 |
nsubj |
hemizygotes,display |
R1565 |
T2312 |
T2313 |
punct |
(,KO |
R1566 |
T2313 |
T2310 |
parataxis |
KO,hemizygotes |
R1567 |
T2314 |
T2313 |
compound |
XpdTTD,KO |
R1568 |
T2315 |
T2313 |
punct |
/,KO |
R1569 |
T2316 |
T2313 |
punct |
),KO |
R1570 |
T2317 |
T2311 |
aux |
do,display |
R1571 |
T2318 |
T2311 |
neg |
not,display |
R1572 |
T2319 |
T2320 |
amod |
significant,differences |
R1573 |
T2320 |
T2311 |
dobj |
differences,display |
R1574 |
T2321 |
T2320 |
prep |
in,differences |
R1575 |
T2322 |
T2323 |
amod |
cutaneous,features |
R1576 |
T2323 |
T2321 |
pobj |
features,in |
R1577 |
T2324 |
T2323 |
cc |
and,features |
R1578 |
T2325 |
T2323 |
conj |
longevity,features |
R1579 |
T2326 |
T2320 |
amod |
relative,differences |
R1580 |
T2327 |
T2326 |
prep |
to,relative |
R1581 |
T2328 |
T2329 |
amod |
homozygous,mice |
R1582 |
T2329 |
T2327 |
pobj |
mice,to |
R1583 |
T2330 |
T2331 |
compound |
XpdTTD,TTD |
R1584 |
T2331 |
T2329 |
compound |
TTD,mice |
R1585 |
T2332 |
T2331 |
punct |
/,TTD |
R1586 |
T2333 |
T2334 |
punct |
[,21 |
R1587 |
T2334 |
T2311 |
parataxis |
21,display |
R1588 |
T2335 |
T2334 |
punct |
],21 |
R1589 |
T2336 |
T2311 |
punct |
.,display |
R1590 |
T2338 |
T2339 |
amod |
Other,features |
R1591 |
T2339 |
T2342 |
nsubj |
features,were |
R1592 |
T2340 |
T2339 |
amod |
prominent,features |
R1593 |
T2341 |
T2339 |
compound |
TTD,features |
R1594 |
T2343 |
T2339 |
prep |
in,features |
R1595 |
T2344 |
T2345 |
det |
the,epidermis |
R1596 |
T2345 |
T2343 |
pobj |
epidermis,in |
R1597 |
T2346 |
T2339 |
punct |
", ",features |
R1598 |
T2347 |
T2339 |
prep |
including,features |
R1599 |
T2348 |
T2347 |
pobj |
acanthosis,including |
R1600 |
T2349 |
T2350 |
punct |
(,thickening |
R1601 |
T2350 |
T2348 |
parataxis |
thickening,acanthosis |
R1602 |
T2351 |
T2350 |
prep |
of,thickening |
R1603 |
T2352 |
T2353 |
det |
the,layer |
R1604 |
T2353 |
T2351 |
pobj |
layer,of |
R1605 |
T2354 |
T2353 |
prep |
of,layer |
R1606 |
T2355 |
T2356 |
det |
the,cells |
R1607 |
T2356 |
T2354 |
pobj |
cells,of |
R1608 |
T2357 |
T2356 |
amod |
nucleated,cells |
R1609 |
T2358 |
T2350 |
punct |
),thickening |
R1610 |
T2359 |
T2348 |
punct |
", ",acanthosis |
R1611 |
T2360 |
T2348 |
conj |
hyperkeratosis,acanthosis |
R1612 |
T2361 |
T2362 |
punct |
(,thickening |
R1613 |
T2362 |
T2360 |
parataxis |
thickening,hyperkeratosis |
R1614 |
T2363 |
T2362 |
amod |
prominent,thickening |
R1615 |
T2364 |
T2362 |
prep |
of,thickening |
R1616 |
T2365 |
T2366 |
det |
the,layer |
R1617 |
T2366 |
T2364 |
pobj |
layer,of |
R1618 |
T2367 |
T2366 |
amod |
cornified,layer |
R1619 |
T2368 |
T2362 |
punct |
),thickening |
R1620 |
T2369 |
T2360 |
punct |
", ",hyperkeratosis |
R1621 |
T2370 |
T2360 |
cc |
and,hyperkeratosis |
R1622 |
T2371 |
T2372 |
amod |
pronounced,layer |
R1623 |
T2372 |
T2360 |
conj |
layer,hyperkeratosis |
R1624 |
T2373 |
T2372 |
amod |
granular,layer |
R1625 |
T2374 |
T2372 |
cc |
and,layer |
R1626 |
T2375 |
T2376 |
amod |
sebacious,gland |
R1627 |
T2376 |
T2377 |
compound |
gland,hyperplasia |
R1628 |
T2377 |
T2372 |
conj |
hyperplasia,layer |
R1629 |
T2378 |
T2379 |
punct |
(,causing |
R1630 |
T2379 |
T2377 |
parataxis |
causing,hyperplasia |
R1631 |
T2380 |
T2381 |
amod |
greasy,appearance |
R1632 |
T2381 |
T2379 |
dobj |
appearance,causing |
R1633 |
T2382 |
T2381 |
prep |
of,appearance |
R1634 |
T2383 |
T2384 |
det |
the,hair |
R1635 |
T2384 |
T2382 |
pobj |
hair,of |
R1636 |
T2385 |
T2379 |
punct |
),causing |
R1637 |
T2386 |
T2342 |
punct |
", ",were |
R1638 |
T2387 |
T2342 |
acomp |
absent,were |
R1639 |
T2388 |
T2342 |
prep |
in,were |
R1640 |
T2389 |
T2390 |
det |
the,skin |
R1641 |
T2390 |
T2388 |
pobj |
skin,in |
R1642 |
T2391 |
T2390 |
prep |
of,skin |
R1643 |
T2392 |
T2393 |
compound |
XpdTTD,†XPCS |
R1644 |
T2393 |
T2395 |
compound |
†XPCS,mice |
R1645 |
T2394 |
T2393 |
punct |
/,†XPCS |
R1646 |
T2395 |
T2391 |
pobj |
mice,of |
R1647 |
T2396 |
T2342 |
punct |
", ",were |
R1648 |
T2397 |
T2398 |
mark |
as,established |
R1649 |
T2398 |
T2342 |
advcl |
established,were |
R1650 |
T2399 |
T2398 |
prep |
by,established |
R1651 |
T2400 |
T2401 |
amod |
blind,examination |
R1652 |
T2401 |
T2399 |
pobj |
examination,by |
R1653 |
T2402 |
T2401 |
amod |
microscopic,examination |
R1654 |
T2403 |
T2401 |
prep |
of,examination |
R1655 |
T2404 |
T2405 |
compound |
skin,sections |
R1656 |
T2405 |
T2403 |
pobj |
sections,of |
R1657 |
T2406 |
T2407 |
punct |
(,2B |
R1658 |
T2407 |
T2342 |
parataxis |
2B,were |
R1659 |
T2408 |
T2407 |
compound |
Figure,2B |
R1660 |
T2409 |
T2407 |
punct |
),2B |
R1661 |
T2410 |
T2342 |
punct |
.,were |
R1662 |
T2412 |
T2413 |
advmod |
Furthermore,rescued |
R1663 |
T2414 |
T2413 |
punct |
", ",rescued |
R1664 |
T2415 |
T2413 |
nsubjpass |
anaemia,rescued |
R1665 |
T2416 |
T2415 |
cc |
and,anaemia |
R1666 |
T2417 |
T2418 |
amod |
developmental,delay |
R1667 |
T2418 |
T2415 |
conj |
delay,anaemia |
R1668 |
T2419 |
T2415 |
amod |
present,anaemia |
R1669 |
T2420 |
T2419 |
prep |
in,present |
R1670 |
T2421 |
T2420 |
pobj |
patients,in |
R1671 |
T2422 |
T2421 |
prep |
with,patients |
R1672 |
T2423 |
T2422 |
pobj |
TTD,with |
R1673 |
T2424 |
T2425 |
punct |
[,24 |
R1674 |
T2425 |
T2421 |
parataxis |
24,patients |
R1675 |
T2426 |
T2425 |
punct |
],24 |
R1676 |
T2427 |
T2420 |
cc |
and,in |
R1677 |
T2428 |
T2420 |
conj |
in,in |
R1678 |
T2429 |
T2430 |
compound |
XpdTTD,TTD |
R1679 |
T2430 |
T2432 |
compound |
TTD,mice |
R1680 |
T2431 |
T2430 |
punct |
/,TTD |
R1681 |
T2432 |
T2428 |
pobj |
mice,in |
R1682 |
T2433 |
T2434 |
punct |
[,15 |
R1683 |
T2434 |
T2432 |
parataxis |
15,mice |
R1684 |
T2435 |
T2434 |
punct |
],15 |
R1685 |
T2436 |
T2413 |
auxpass |
were,rescued |
R1686 |
T2437 |
T2413 |
advmod |
both,rescued |
R1687 |
T2438 |
T2413 |
advmod |
partially,rescued |
R1688 |
T2439 |
T2413 |
prep |
in,rescued |
R1689 |
T2440 |
T2441 |
amod |
compound,mice |
R1690 |
T2441 |
T2439 |
pobj |
mice,in |
R1691 |
T2442 |
T2441 |
amod |
heterozygous,mice |
R1692 |
T2443 |
T2444 |
compound |
XpdTTD,†XPCS |
R1693 |
T2444 |
T2441 |
compound |
†XPCS,mice |
R1694 |
T2445 |
T2444 |
punct |
/,†XPCS |
R1695 |
T2446 |
T2447 |
punct |
(,2D |
R1696 |
T2447 |
T2413 |
parataxis |
2D,rescued |
R1697 |
T2448 |
T2447 |
compound |
Figure,2D |
R1698 |
T2449 |
T2447 |
cc |
and,2D |
R1699 |
T2450 |
T2447 |
conj |
2E,2D |
R1700 |
T2451 |
T2447 |
punct |
),2D |
R1701 |
T2452 |
T2413 |
punct |
.,rescued |
R1706 |
T2577 |
T2578 |
compound |
TTD,Mice |
R1707 |
T2578 |
T2576 |
pobj |
Mice,in |
R1709 |
T2580 |
T2581 |
amod |
Homozygous,Alleles |
R1710 |
T2581 |
T2579 |
pobj |
Alleles,by |
R1711 |
T2582 |
T2581 |
amod |
Lethal,Alleles |
R1712 |
T2583 |
T2581 |
compound |
Xpd,Alleles |
R1713 |
T2585 |
T2586 |
mark |
Because,share |
R1714 |
T2586 |
T2605 |
advcl |
share,addressed |
R1715 |
T2587 |
T2586 |
nsubj |
patients,share |
R1716 |
T2588 |
T2587 |
prep |
with,patients |
R1717 |
T2589 |
T2588 |
pobj |
TTD,with |
R1718 |
T2590 |
T2589 |
punct |
", ",TTD |
R1719 |
T2591 |
T2589 |
conj |
XPCS,TTD |
R1720 |
T2592 |
T2591 |
punct |
", ",XPCS |
R1721 |
T2593 |
T2591 |
cc |
and,XPCS |
R1722 |
T2594 |
T2591 |
conj |
CS,XPCS |
R1723 |
T2595 |
T2589 |
punct |
(,TTD |
R1724 |
T2596 |
T2589 |
cc |
but,TTD |
R1725 |
T2597 |
T2596 |
neg |
not,but |
R1726 |
T2598 |
T2589 |
conj |
XP,TTD |
R1727 |
T2599 |
T2587 |
punct |
),patients |
R1728 |
T2600 |
T2587 |
cc |
and,patients |
R1729 |
T2601 |
T2602 |
det |
the,models |
R1730 |
T2602 |
T2587 |
conj |
models,patients |
R1731 |
T2603 |
T2602 |
amod |
corresponding,models |
R1732 |
T2604 |
T2602 |
compound |
mouse,models |
R1733 |
T2606 |
T2607 |
amod |
similar,symptoms |
R1734 |
T2607 |
T2586 |
dobj |
symptoms,share |
R1735 |
T2608 |
T2607 |
amod |
accelerated,symptoms |
R1736 |
T2609 |
T2607 |
compound |
progeroid,symptoms |
R1737 |
T2610 |
T2611 |
punct |
[,23 |
R1738 |
T2611 |
T2586 |
parataxis |
23,share |
R1739 |
T2612 |
T2611 |
nummod |
12,23 |
R1740 |
T2613 |
T2611 |
punct |
",",23 |
R1741 |
T2614 |
T2611 |
nummod |
13,23 |
R1742 |
T2615 |
T2611 |
punct |
",",23 |
R1743 |
T2616 |
T2611 |
nummod |
15,23 |
R1744 |
T2617 |
T2611 |
punct |
",",23 |
R1745 |
T2618 |
T2611 |
punct |
],23 |
R1746 |
T2619 |
T2605 |
punct |
", ",addressed |
R1747 |
T2620 |
T2605 |
nsubj |
we,addressed |
R1748 |
T2621 |
T2605 |
advmod |
next,addressed |
R1749 |
T2622 |
T2623 |
amod |
ageing,related |
R1750 |
T2623 |
T2625 |
amod |
related,parameters |
R1751 |
T2624 |
T2623 |
punct |
-,related |
R1752 |
T2625 |
T2605 |
dobj |
parameters,addressed |
R1753 |
T2626 |
T2625 |
prep |
in,parameters |
R1754 |
T2627 |
T2628 |
amod |
compound,mice |
R1755 |
T2628 |
T2626 |
pobj |
mice,in |
R1756 |
T2629 |
T2628 |
amod |
heterozygous,mice |
R1757 |
T2630 |
T2631 |
punct |
(,Figure |
R1758 |
T2631 |
T2605 |
parataxis |
Figure,addressed |
R1759 |
T2632 |
T2631 |
nummod |
3,Figure |
R1760 |
T2633 |
T2631 |
punct |
),Figure |
R1761 |
T2634 |
T2605 |
punct |
.,addressed |
R1762 |
T2636 |
T2637 |
mark |
Whereas,show |
R1763 |
T2637 |
T2642 |
advcl |
show,were |
R1764 |
T2638 |
T2639 |
compound |
XpdTTD,TTD |
R1765 |
T2639 |
T2641 |
compound |
TTD,animals |
R1766 |
T2640 |
T2639 |
punct |
/,TTD |
R1767 |
T2641 |
T2637 |
nsubj |
animals,show |
R1768 |
T2643 |
T2644 |
amod |
reduced,density |
R1769 |
T2644 |
T2637 |
dobj |
density,show |
R1770 |
T2645 |
T2646 |
compound |
bone,mineral |
R1771 |
T2646 |
T2644 |
compound |
mineral,density |
R1772 |
T2647 |
T2637 |
prep |
as,show |
R1773 |
T2648 |
T2649 |
det |
an,indication |
R1774 |
T2649 |
T2647 |
pobj |
indication,as |
R1775 |
T2650 |
T2649 |
prep |
of,indication |
R1776 |
T2651 |
T2652 |
det |
the,onset |
R1777 |
T2652 |
T2650 |
pobj |
onset,of |
R1778 |
T2653 |
T2652 |
amod |
early,onset |
R1779 |
T2654 |
T2652 |
prep |
of,onset |
R1780 |
T2655 |
T2654 |
pobj |
osteoporosis,of |
R1781 |
T2656 |
T2652 |
prep |
before,onset |
R1782 |
T2657 |
T2658 |
punct |
~,14 |
R1783 |
T2658 |
T2659 |
nummod |
14,mo |
R1784 |
T2659 |
T2656 |
pobj |
mo,before |
R1785 |
T2660 |
T2659 |
prep |
of,mo |
R1786 |
T2661 |
T2660 |
pobj |
age,of |
R1787 |
T2662 |
T2663 |
punct |
[,15 |
R1788 |
T2663 |
T2637 |
parataxis |
15,show |
R1789 |
T2664 |
T2663 |
punct |
],15 |
R1790 |
T2665 |
T2642 |
punct |
", ",were |
R1791 |
T2666 |
T2667 |
compound |
tail,vertebrae |
R1792 |
T2667 |
T2642 |
nsubj |
vertebrae,were |
R1793 |
T2668 |
T2667 |
prep |
from,vertebrae |
R1794 |
T2669 |
T2670 |
nmod |
compound,mice |
R1795 |
T2670 |
T2668 |
pobj |
mice,from |
R1796 |
T2671 |
T2670 |
amod |
heterozygous,mice |
R1797 |
T2672 |
T2673 |
compound |
XpdTTD,†XPCS |
R1798 |
T2673 |
T2670 |
compound |
†XPCS,mice |
R1799 |
T2674 |
T2673 |
punct |
/,†XPCS |
R1800 |
T2675 |
T2642 |
acomp |
comparable,were |
R1801 |
T2676 |
T2675 |
prep |
to,comparable |
R1802 |
T2677 |
T2676 |
pobj |
wt,to |
R1803 |
T2678 |
T2679 |
advmod |
even,at |
R1804 |
T2679 |
T2642 |
prep |
at,were |
R1805 |
T2680 |
T2681 |
nummod |
20,mo |
R1806 |
T2681 |
T2679 |
pobj |
mo,at |
R1807 |
T2682 |
T2681 |
prep |
of,mo |
R1808 |
T2683 |
T2682 |
pobj |
age,of |
R1809 |
T2684 |
T2685 |
punct |
(,3B |
R1810 |
T2685 |
T2642 |
parataxis |
3B,were |
R1811 |
T2686 |
T2685 |
compound |
Figure,3B |
R1812 |
T2687 |
T2685 |
cc |
and,3B |
R1813 |
T2688 |
T2685 |
conj |
3C,3B |
R1814 |
T2689 |
T2685 |
punct |
),3B |
R1815 |
T2690 |
T2642 |
punct |
.,were |
R1816 |
T2692 |
T2693 |
advmod |
Furthermore,3B |
R1817 |
T2694 |
T2693 |
punct |
", ",3B |
R1818 |
T2695 |
T2696 |
mark |
whereas,developed |
R1819 |
T2696 |
T2693 |
advcl |
developed,3B |
R1820 |
T2697 |
T2698 |
compound |
XpdTTD,TTD |
R1821 |
T2698 |
T2700 |
compound |
TTD,mice |
R1822 |
T2699 |
T2698 |
punct |
/,TTD |
R1823 |
T2700 |
T2696 |
nsubj |
mice,developed |
R1824 |
T2701 |
T2696 |
dobj |
kyphosis,developed |
R1825 |
T2702 |
T2696 |
advmod |
earlier,developed |
R1826 |
T2703 |
T2702 |
prep |
than,earlier |
R1827 |
T2704 |
T2705 |
compound |
wt,animals |
R1828 |
T2705 |
T2703 |
pobj |
animals,than |
R1829 |
T2706 |
T2707 |
punct |
(,onset |
R1830 |
T2707 |
T2702 |
parataxis |
onset,earlier |
R1831 |
T2708 |
T2709 |
punct |
~,3 |
R1832 |
T2709 |
T2710 |
nummod |
3,mo |
R1833 |
T2710 |
T2707 |
npadvmod |
mo,onset |
R1834 |
T2711 |
T2710 |
cc |
versus,mo |
R1835 |
T2712 |
T2713 |
quantmod |
12,20 |
R1836 |
T2713 |
T2715 |
nummod |
20,mo |
R1837 |
T2714 |
T2713 |
punct |
–,20 |
R1838 |
T2715 |
T2710 |
conj |
mo,mo |
R1839 |
T2716 |
T2707 |
punct |
),onset |
R1840 |
T2717 |
T2693 |
punct |
", ",3B |
R1841 |
T2718 |
T2719 |
amod |
compound,mice |
R1842 |
T2719 |
T2693 |
nsubj |
mice,3B |
R1843 |
T2720 |
T2719 |
amod |
heterozygous,mice |
R1844 |
T2721 |
T2722 |
compound |
XpdTTD,†XPCS |
R1845 |
T2722 |
T2719 |
compound |
†XPCS,mice |
R1846 |
T2723 |
T2722 |
punct |
/,†XPCS |
R1847 |
T2724 |
T2693 |
aux |
did,3B |
R1848 |
T2725 |
T2693 |
neg |
not,3B |
R1849 |
T2726 |
T2693 |
punct |
(,3B |
R1850 |
T2727 |
T2693 |
compound |
Figure,3B |
R1851 |
T2728 |
T2693 |
punct |
),3B |
R1852 |
T2729 |
T2693 |
punct |
.,3B |
R1853 |
T2731 |
T2732 |
amod |
Overall,appearance |
R1854 |
T2732 |
T2733 |
nsubj |
appearance,revealed |
R1855 |
T2734 |
T2732 |
cc |
and,appearance |
R1856 |
T2735 |
T2736 |
compound |
body,weight |
R1857 |
T2736 |
T2737 |
compound |
weight,curves |
R1858 |
T2737 |
T2732 |
conj |
curves,appearance |
R1859 |
T2738 |
T2739 |
mark |
that,rescued |
R1860 |
T2739 |
T2733 |
ccomp |
rescued,revealed |
R1861 |
T2740 |
T2741 |
npadvmod |
TTD,associated |
R1862 |
T2741 |
T2743 |
amod |
associated,cachexia |
R1863 |
T2742 |
T2741 |
punct |
-,associated |
R1864 |
T2743 |
T2739 |
nsubjpass |
cachexia,rescued |
R1865 |
T2744 |
T2745 |
npadvmod |
age,related |
R1866 |
T2745 |
T2743 |
amod |
related,cachexia |
R1867 |
T2746 |
T2745 |
punct |
-,related |
R1868 |
T2747 |
T2743 |
amod |
premature,cachexia |
R1869 |
T2748 |
T2743 |
cc |
and,cachexia |
R1870 |
T2749 |
T2743 |
conj |
lack,cachexia |
R1871 |
T2750 |
T2749 |
prep |
of,lack |
R1872 |
T2751 |
T2752 |
amod |
general,fitness |
R1873 |
T2752 |
T2750 |
pobj |
fitness,of |
R1874 |
T2753 |
T2739 |
auxpass |
were,rescued |
R1875 |
T2754 |
T2739 |
advmod |
fully,rescued |
R1876 |
T2755 |
T2739 |
prep |
in,rescued |
R1877 |
T2756 |
T2757 |
amod |
compound,mice |
R1878 |
T2757 |
T2755 |
pobj |
mice,in |
R1879 |
T2758 |
T2757 |
amod |
heterozygous,mice |
R1880 |
T2759 |
T2760 |
compound |
XpdTTD,†XPCS |
R1881 |
T2760 |
T2757 |
compound |
†XPCS,mice |
R1882 |
T2761 |
T2760 |
punct |
/,†XPCS |
R1883 |
T2762 |
T2763 |
punct |
(,3A |
R1884 |
T2763 |
T2733 |
parataxis |
3A,revealed |
R1885 |
T2764 |
T2763 |
compound |
Figure,3A |
R1886 |
T2765 |
T2763 |
cc |
and,3A |
R1887 |
T2766 |
T2763 |
conj |
3D,3A |
R1888 |
T2767 |
T2763 |
punct |
),3A |
R1889 |
T2768 |
T2733 |
punct |
.,revealed |
R1890 |
T2770 |
T2771 |
advmod |
Finally,extended |
R1891 |
T2772 |
T2771 |
punct |
", ",extended |
R1892 |
T2773 |
T2774 |
det |
the,span |
R1893 |
T2774 |
T2771 |
nsubjpass |
span,extended |
R1894 |
T2775 |
T2774 |
compound |
life,span |
R1895 |
T2776 |
T2774 |
prep |
of,span |
R1896 |
T2777 |
T2778 |
amod |
compound,heterozygotes |
R1897 |
T2778 |
T2776 |
pobj |
heterozygotes,of |
R1898 |
T2779 |
T2771 |
auxpass |
was,extended |
R1899 |
T2780 |
T2771 |
advcl |
relative,extended |
R1900 |
T2781 |
T2780 |
prep |
to,relative |
R1901 |
T2782 |
T2783 |
compound |
XpdTTD,TTD |
R1902 |
T2783 |
T2785 |
compound |
TTD,mice |
R1903 |
T2784 |
T2783 |
punct |
/,TTD |
R1904 |
T2785 |
T2781 |
pobj |
mice,to |
R1905 |
T2786 |
T2787 |
punct |
(,Table |
R1906 |
T2787 |
T2771 |
parataxis |
Table,extended |
R1907 |
T2788 |
T2787 |
nummod |
2,Table |
R1908 |
T2789 |
T2787 |
punct |
),Table |
R1909 |
T2790 |
T2771 |
punct |
.,extended |
R1910 |
T2792 |
T2793 |
aux |
To,determine |
R1911 |
T2793 |
T2794 |
advcl |
determine,generated |
R1912 |
T2795 |
T2796 |
mark |
whether,was |
R1913 |
T2796 |
T2793 |
ccomp |
was,determine |
R1914 |
T2797 |
T2798 |
det |
the,allele |
R1915 |
T2798 |
T2796 |
nsubj |
allele,was |
R1916 |
T2799 |
T2798 |
amod |
homozygous,allele |
R1917 |
T2800 |
T2798 |
amod |
lethal,allele |
R1918 |
T2801 |
T2798 |
compound |
Xpd†XPCS,allele |
R1919 |
T2802 |
T2796 |
acomp |
unique,was |
R1920 |
T2803 |
T2802 |
prep |
in,unique |
R1921 |
T2804 |
T2805 |
poss |
its,ability |
R1922 |
T2805 |
T2803 |
pobj |
ability,in |
R1923 |
T2806 |
T2807 |
aux |
to,ameliorate |
R1924 |
T2807 |
T2805 |
acl |
ameliorate,ability |
R1925 |
T2808 |
T2807 |
dobj |
symptoms,ameliorate |
R1926 |
T2809 |
T2808 |
acl |
associated,symptoms |
R1927 |
T2810 |
T2809 |
prep |
with,associated |
R1928 |
T2811 |
T2812 |
det |
the,allele |
R1929 |
T2812 |
T2810 |
pobj |
allele,with |
R1930 |
T2813 |
T2812 |
compound |
XpdTTD,allele |
R1931 |
T2814 |
T2794 |
punct |
", ",generated |
R1932 |
T2815 |
T2794 |
nsubj |
we,generated |
R1933 |
T2816 |
T2817 |
nmod |
compound,mice |
R1934 |
T2817 |
T2794 |
dobj |
mice,generated |
R1935 |
T2818 |
T2817 |
amod |
heterozygous,mice |
R1936 |
T2819 |
T2820 |
compound |
XpdTTD,†XP |
R1937 |
T2820 |
T2817 |
compound |
†XP,mice |
R1938 |
T2821 |
T2820 |
punct |
/,†XP |
R1939 |
T2822 |
T2794 |
prep |
by,generated |
R1940 |
T2823 |
T2822 |
pcomp |
crossing,by |
R1941 |
T2824 |
T2825 |
det |
the,animals |
R1942 |
T2825 |
T2823 |
dobj |
animals,crossing |
R1943 |
T2826 |
T2825 |
amod |
corresponding,animals |
R1944 |
T2827 |
T2825 |
amod |
heterozygous,animals |
R1945 |
T2828 |
T2794 |
punct |
.,generated |
R1946 |
T2830 |
T2831 |
advcl |
Similar,rescued |
R1947 |
T2832 |
T2830 |
prep |
to,Similar |
R1948 |
T2833 |
T2834 |
det |
the,allele |
R1949 |
T2834 |
T2832 |
pobj |
allele,to |
R1950 |
T2835 |
T2834 |
compound |
Xpd †XPCS,allele |
R1951 |
T2836 |
T2831 |
punct |
", ",rescued |
R1952 |
T2837 |
T2838 |
det |
the,allele |
R1953 |
T2838 |
T2831 |
nsubj |
allele,rescued |
R1954 |
T2839 |
T2838 |
amod |
homozygous,allele |
R1955 |
T2840 |
T2838 |
amod |
lethal,allele |
R1956 |
T2841 |
T2838 |
compound |
Xpd †XP,allele |
R1957 |
T2842 |
T2843 |
amod |
cutaneous,symptoms |
R1958 |
T2843 |
T2831 |
dobj |
symptoms,rescued |
R1959 |
T2844 |
T2843 |
prep |
including,symptoms |
R1960 |
T2845 |
T2846 |
compound |
hair,loss |
R1961 |
T2846 |
T2844 |
pobj |
loss,including |
R1962 |
T2847 |
T2848 |
punct |
(,data |
R1963 |
T2848 |
T2846 |
parataxis |
data,loss |
R1964 |
T2849 |
T2848 |
prep |
except,data |
R1965 |
T2850 |
T2849 |
pcomp |
locally,except |
R1966 |
T2851 |
T2850 |
prep |
during,locally |
R1967 |
T2852 |
T2853 |
det |
the,round |
R1968 |
T2853 |
T2851 |
pobj |
round,during |
R1969 |
T2854 |
T2853 |
amod |
first,round |
R1970 |
T2855 |
T2848 |
punct |
;,data |
R1971 |
T2856 |
T2848 |
amod |
unpublished,data |
R1972 |
T2857 |
T2848 |
punct |
),data |
R1973 |
T2858 |
T2846 |
punct |
", ",loss |
R1974 |
T2859 |
T2860 |
amod |
reduced,content |
R1975 |
T2860 |
T2846 |
conj |
content,loss |
R1976 |
T2861 |
T2860 |
compound |
cysteine,content |
R1977 |
T2862 |
T2863 |
punct |
(,index |
R1978 |
T2863 |
T2860 |
parataxis |
index,content |
R1979 |
T2864 |
T2863 |
compound |
cysteine,index |
R1980 |
T2865 |
T2863 |
npadvmod |
9.3,index |
R1981 |
T2866 |
T2865 |
punct |
±,9.3 |
R1982 |
T2867 |
T2868 |
nummod |
0.9,deviation |
R1983 |
T2868 |
T2865 |
appos |
deviation,9.3 |
R1984 |
T2869 |
T2868 |
amod |
standard,deviation |
R1985 |
T2870 |
T2871 |
punct |
[,% |
R1986 |
T2871 |
T2865 |
parataxis |
%,9.3 |
R1987 |
T2872 |
T2871 |
nummod |
87,% |
R1988 |
T2873 |
T2871 |
prep |
of,% |
R1989 |
T2874 |
T2873 |
pobj |
wt,of |
R1990 |
T2875 |
T2871 |
punct |
],% |
R1991 |
T2876 |
T2863 |
punct |
", ",index |
R1992 |
T2877 |
T2878 |
nsubj |
p,TTD |
R1993 |
T2878 |
T2863 |
ccomp |
TTD,index |
R1994 |
T2879 |
T2878 |
punct |
=,TTD |
R1995 |
T2880 |
T2878 |
nummod |
0.01,TTD |
R1996 |
T2881 |
T2878 |
cc |
versus,TTD |
R1997 |
T2882 |
T2863 |
punct |
),index |
R1998 |
T2883 |
T2860 |
punct |
", ",content |
R1999 |
T2884 |
T2885 |
npadvmod |
ageing,associated |
R2000 |
T2885 |
T2887 |
amod |
associated,cachexia |
R2001 |
T2886 |
T2885 |
punct |
-,associated |
R2002 |
T2887 |
T2860 |
conj |
cachexia,content |
R2003 |
T2888 |
T2887 |
amod |
premature,cachexia |
R2004 |
T2889 |
T2890 |
punct |
(,were |
R2005 |
T2890 |
T2887 |
parataxis |
were,cachexia |
R2006 |
T2891 |
T2890 |
nsubj |
males,were |
R2007 |
T2892 |
T2891 |
cc |
and,males |
R2008 |
T2893 |
T2891 |
conj |
females,males |
R2009 |
T2894 |
T2895 |
nummod |
36.1,6.4 |
R2010 |
T2895 |
T2897 |
nummod |
6.4,g |
R2011 |
T2896 |
T2895 |
punct |
±,6.4 |
R2012 |
T2897 |
T2890 |
attr |
g,were |
R2013 |
T2898 |
T2899 |
punct |
[,% |
R2014 |
T2899 |
T2897 |
parataxis |
%,g |
R2015 |
T2900 |
T2899 |
nummod |
93,% |
R2016 |
T2901 |
T2899 |
prep |
of,% |
R2017 |
T2902 |
T2901 |
pobj |
wt,of |
R2018 |
T2903 |
T2899 |
punct |
],% |
R2019 |
T2904 |
T2897 |
cc |
and,g |
R2020 |
T2905 |
T2906 |
nummod |
39.2,3.2 |
R2021 |
T2906 |
T2908 |
nummod |
3.2,g |
R2022 |
T2907 |
T2906 |
punct |
±,3.2 |
R2023 |
T2908 |
T2897 |
conj |
g,g |
R2024 |
T2909 |
T2910 |
punct |
[,% |
R2025 |
T2910 |
T2908 |
parataxis |
%,g |
R2026 |
T2911 |
T2910 |
nummod |
116,% |
R2027 |
T2912 |
T2910 |
prep |
of,% |
R2028 |
T2913 |
T2912 |
pobj |
wt,of |
R2029 |
T2914 |
T2910 |
punct |
],% |
R2030 |
T2915 |
T2890 |
punct |
", ",were |
R2031 |
T2916 |
T2890 |
advmod |
respectively,were |
R2032 |
T2917 |
T2890 |
punct |
),were |
R2033 |
T2918 |
T2887 |
punct |
", ",cachexia |
R2034 |
T2919 |
T2887 |
cc |
and,cachexia |
R2035 |
T2920 |
T2921 |
amod |
reduced,span |
R2036 |
T2921 |
T2887 |
conj |
span,cachexia |
R2037 |
T2922 |
T2921 |
compound |
life,span |
R2038 |
T2923 |
T2924 |
punct |
(,Table |
R2039 |
T2924 |
T2831 |
parataxis |
Table,rescued |
R2040 |
T2925 |
T2924 |
nummod |
2,Table |
R2041 |
T2926 |
T2924 |
punct |
),Table |
R2042 |
T2927 |
T2831 |
punct |
.,rescued |
R2043 |
T2929 |
T2930 |
advcl |
Taken,indicate |
R2044 |
T2931 |
T2929 |
advmod |
together,Taken |
R2045 |
T2932 |
T2930 |
punct |
", ",indicate |
R2046 |
T2933 |
T2934 |
det |
these,data |
R2047 |
T2934 |
T2930 |
nsubj |
data,indicate |
R2048 |
T2935 |
T2936 |
mark |
that,were |
R2049 |
T2936 |
T2930 |
ccomp |
were,indicate |
R2050 |
T2937 |
T2938 |
nummod |
two,alleles |
R2051 |
T2938 |
T2936 |
nsubj |
alleles,were |
R2052 |
T2939 |
T2938 |
amod |
independent,alleles |
R2053 |
T2940 |
T2938 |
punct |
", ",alleles |
R2054 |
T2941 |
T2942 |
dep |
which,are |
R2055 |
T2942 |
T2938 |
relcl |
are,alleles |
R2056 |
T2943 |
T2942 |
prep |
on,are |
R2057 |
T2944 |
T2945 |
poss |
their,own |
R2058 |
T2945 |
T2943 |
pobj |
own,on |
R2059 |
T2946 |
T2942 |
acomp |
unable,are |
R2060 |
T2947 |
T2948 |
aux |
to,support |
R2061 |
T2948 |
T2946 |
xcomp |
support,unable |
R2062 |
T2949 |
T2948 |
dobj |
viability,support |
R2063 |
T2950 |
T2951 |
punct |
(,Table |
R2064 |
T2951 |
T2948 |
parataxis |
Table,support |
R2065 |
T2952 |
T2951 |
nummod |
1,Table |
R2066 |
T2953 |
T2951 |
punct |
),Table |
R2067 |
T2954 |
T2936 |
punct |
", ",were |
R2068 |
T2955 |
T2936 |
advmod |
nonetheless,were |
R2069 |
T2956 |
T2936 |
acomp |
able,were |
R2070 |
T2957 |
T2958 |
aux |
to,ameliorate |
R2071 |
T2958 |
T2956 |
xcomp |
ameliorate,able |
R2072 |
T2959 |
T2960 |
npadvmod |
TTD,associated |
R2073 |
T2960 |
T2962 |
amod |
associated,phenotypes |
R2074 |
T2961 |
T2960 |
punct |
-,associated |
R2075 |
T2962 |
T2958 |
dobj |
phenotypes,ameliorate |
R2076 |
T2963 |
T2964 |
advmod |
in,vivo |
R2077 |
T2964 |
T2958 |
advmod |
vivo,ameliorate |
R2078 |
T2965 |
T2966 |
punct |
(,Table |
R2079 |
T2966 |
T2958 |
parataxis |
Table,ameliorate |
R2080 |
T2967 |
T2966 |
nummod |
2,Table |
R2081 |
T2968 |
T2966 |
punct |
),Table |
R2082 |
T2969 |
T2930 |
punct |
.,indicate |
R2083 |
T3312 |
T3313 |
amod |
Molecular,Mechanisms |
R2084 |
T3314 |
T3313 |
prep |
of,Mechanisms |
R2085 |
T3315 |
T3316 |
amod |
Biallelic,Effects |
R2086 |
T3316 |
T3314 |
pobj |
Effects,of |
R2087 |
T3318 |
T3319 |
nsubj |
We,turned |
R2088 |
T3320 |
T3319 |
advmod |
next,turned |
R2089 |
T3321 |
T3319 |
prep |
to,turned |
R2090 |
T3322 |
T3323 |
npadvmod |
UV,based |
R2091 |
T3323 |
T3325 |
amod |
based,assays |
R2092 |
T3324 |
T3323 |
punct |
-,based |
R2093 |
T3325 |
T3321 |
pobj |
assays,to |
R2094 |
T3326 |
T3325 |
amod |
cellular,assays |
R2095 |
T3327 |
T3325 |
prep |
including,assays |
R2096 |
T3328 |
T3329 |
amod |
unscheduled,synthesis |
R2097 |
T3329 |
T3327 |
pobj |
synthesis,including |
R2098 |
T3330 |
T3329 |
compound |
DNA,synthesis |
R2099 |
T3331 |
T3329 |
prep |
after,synthesis |
R2100 |
T3332 |
T3333 |
compound |
UV,irradiation |
R2101 |
T3333 |
T3331 |
pobj |
irradiation,after |
R2102 |
T3334 |
T3335 |
punct |
(,UDS |
R2103 |
T3335 |
T3329 |
parataxis |
UDS,synthesis |
R2104 |
T3336 |
T3335 |
compound |
UV,UDS |
R2105 |
T3337 |
T3335 |
punct |
-,UDS |
R2106 |
T3338 |
T3335 |
punct |
),UDS |
R2107 |
T3339 |
T3329 |
punct |
", ",synthesis |
R2108 |
T3340 |
T3329 |
conj |
recovery,synthesis |
R2109 |
T3341 |
T3340 |
prep |
of,recovery |
R2110 |
T3342 |
T3343 |
compound |
RNA,synthesis |
R2111 |
T3343 |
T3341 |
pobj |
synthesis,of |
R2112 |
T3344 |
T3340 |
prep |
after,recovery |
R2113 |
T3345 |
T3346 |
compound |
UV,irradiation |
R2114 |
T3346 |
T3344 |
pobj |
irradiation,after |
R2115 |
T3347 |
T3348 |
punct |
(,RRS |
R2116 |
T3348 |
T3340 |
parataxis |
RRS,recovery |
R2117 |
T3349 |
T3348 |
compound |
UV,RRS |
R2118 |
T3350 |
T3348 |
punct |
-,RRS |
R2119 |
T3351 |
T3348 |
punct |
),RRS |
R2120 |
T3352 |
T3340 |
punct |
", ",recovery |
R2121 |
T3353 |
T3340 |
cc |
and,recovery |
R2122 |
T3354 |
T3355 |
compound |
UV,survival |
R2123 |
T3355 |
T3340 |
conj |
survival,recovery |
R2124 |
T3356 |
T3329 |
punct |
", ",synthesis |
R2125 |
T3357 |
T3358 |
dep |
which,report |
R2126 |
T3358 |
T3329 |
relcl |
report,synthesis |
R2127 |
T3359 |
T3358 |
prep |
on,report |
R2128 |
T3360 |
T3361 |
det |
the,subpathways |
R2129 |
T3361 |
T3359 |
pobj |
subpathways,on |
R2130 |
T3362 |
T3361 |
compound |
NER,subpathways |
R2131 |
T3363 |
T3364 |
punct |
(,NER |
R2132 |
T3364 |
T3361 |
parataxis |
NER,subpathways |
R2133 |
T3365 |
T3364 |
amod |
global,NER |
R2134 |
T3366 |
T3364 |
compound |
genome,NER |
R2135 |
T3367 |
T3364 |
cc |
and,NER |
R2136 |
T3368 |
T3369 |
npadvmod |
transcription,coupled |
R2137 |
T3369 |
T3371 |
amod |
coupled,NER |
R2138 |
T3370 |
T3369 |
punct |
-,coupled |
R2139 |
T3371 |
T3364 |
conj |
NER,NER |
R2140 |
T3372 |
T3364 |
punct |
),NER |
R2141 |
T3373 |
T3361 |
cc |
and,subpathways |
R2142 |
T3374 |
T3375 |
amod |
total,NER |
R2143 |
T3375 |
T3361 |
conj |
NER,subpathways |
R2144 |
T3376 |
T3358 |
punct |
", ",report |
R2145 |
T3377 |
T3358 |
advmod |
respectively,report |
R2146 |
T3378 |
T3319 |
punct |
.,turned |
R2147 |
T3380 |
T3381 |
prep |
In,improved |
R2148 |
T3382 |
T3380 |
pobj |
none,In |
R2149 |
T3383 |
T3382 |
prep |
of,none |
R2150 |
T3384 |
T3385 |
det |
these,assays |
R2151 |
T3385 |
T3383 |
pobj |
assays,of |
R2152 |
T3386 |
T3381 |
auxpass |
was,improved |
R2153 |
T3387 |
T3388 |
det |
the,response |
R2154 |
T3388 |
T3381 |
nsubjpass |
response,improved |
R2155 |
T3389 |
T3388 |
prep |
to,response |
R2156 |
T3390 |
T3389 |
pobj |
UV,to |
R2157 |
T3391 |
T3381 |
prep |
in,improved |
R2158 |
T3392 |
T3393 |
compound |
compound,heterozygotes |
R2159 |
T3393 |
T3391 |
pobj |
heterozygotes,in |
R2160 |
T3394 |
T3381 |
advcl |
relative,improved |
R2161 |
T3395 |
T3394 |
prep |
to,relative |
R2162 |
T3396 |
T3397 |
compound |
TTD,homozygotes |
R2163 |
T3397 |
T3395 |
pobj |
homozygotes,to |
R2164 |
T3398 |
T3399 |
punct |
(,4A |
R2165 |
T3399 |
T3381 |
parataxis |
4A,improved |
R2166 |
T3400 |
T3399 |
compound |
Figure,4A |
R2167 |
T3401 |
T3402 |
punct |
–,4C |
R2168 |
T3402 |
T3399 |
prep |
4C,4A |
R2169 |
T3403 |
T3399 |
punct |
),4A |
R2170 |
T3404 |
T3381 |
punct |
.,improved |
R2171 |
T3406 |
T3407 |
advmod |
However,observed |
R2172 |
T3408 |
T3407 |
punct |
", ",observed |
R2173 |
T3409 |
T3407 |
prep |
unlike,observed |
R2174 |
T3410 |
T3411 |
det |
the,phenotypes |
R2175 |
T3411 |
T3409 |
pobj |
phenotypes,unlike |
R2176 |
T3412 |
T3413 |
advmod |
in,vivo |
R2177 |
T3413 |
T3411 |
amod |
vivo,phenotypes |
R2178 |
T3414 |
T3411 |
compound |
TTD,phenotypes |
R2179 |
T3415 |
T3411 |
acl |
described,phenotypes |
R2180 |
T3416 |
T3415 |
advmod |
above,described |
R2181 |
T3417 |
T3411 |
punct |
", ",phenotypes |
R2182 |
T3418 |
T3419 |
prep |
in,were |
R2183 |
T3419 |
T3411 |
relcl |
were,phenotypes |
R2184 |
T3420 |
T3418 |
pobj |
which,in |
R2185 |
T3421 |
T3422 |
nmod |
XpdTTD,TTD |
R2186 |
T3422 |
T3424 |
nmod |
TTD,animals |
R2187 |
T3423 |
T3422 |
punct |
/,TTD |
R2188 |
T3424 |
T3419 |
nsubj |
animals,were |
R2189 |
T3425 |
T3422 |
cc |
and,TTD |
R2190 |
T3426 |
T3427 |
compound |
XpdTTD,KO |
R2191 |
T3427 |
T3422 |
conj |
KO,TTD |
R2192 |
T3428 |
T3427 |
punct |
/,KO |
R2193 |
T3429 |
T3419 |
acomp |
indistinguishable,were |
R2194 |
T3430 |
T3407 |
punct |
", ",observed |
R2195 |
T3431 |
T3432 |
compound |
XpdTTD,effects |
R2196 |
T3432 |
T3407 |
nsubjpass |
effects,observed |
R2197 |
T3433 |
T3432 |
compound |
dosage,effects |
R2198 |
T3434 |
T3407 |
auxpass |
were,observed |
R2199 |
T3435 |
T3407 |
prep |
in,observed |
R2200 |
T3436 |
T3437 |
compound |
UV,survival |
R2201 |
T3437 |
T3435 |
pobj |
survival,in |
R2202 |
T3438 |
T3437 |
punct |
", ",survival |
R2203 |
T3439 |
T3440 |
compound |
UV,UDS |
R2204 |
T3440 |
T3437 |
conj |
UDS,survival |
R2205 |
T3441 |
T3440 |
punct |
-,UDS |
R2206 |
T3442 |
T3440 |
punct |
", ",UDS |
R2207 |
T3443 |
T3440 |
cc |
and,UDS |
R2208 |
T3444 |
T3445 |
compound |
UV,RRS |
R2209 |
T3445 |
T3440 |
conj |
RRS,UDS |
R2210 |
T3446 |
T3445 |
punct |
-,RRS |
R2211 |
T3447 |
T3407 |
punct |
", ",observed |
R2212 |
T3448 |
T3407 |
advcl |
indicating,observed |
R2213 |
T3449 |
T3450 |
mark |
that,correlate |
R2214 |
T3450 |
T3448 |
ccomp |
correlate,indicating |
R2215 |
T3451 |
T3452 |
amod |
cellular,parameters |
R2216 |
T3452 |
T3450 |
nsubj |
parameters,correlate |
R2217 |
T3453 |
T3454 |
mark |
as,measured |
R2218 |
T3454 |
T3452 |
advcl |
measured,parameters |
R2219 |
T3455 |
T3454 |
prep |
in,measured |
R2220 |
T3456 |
T3455 |
pobj |
fibroblasts,in |
R2221 |
T3457 |
T3454 |
advmod |
here,measured |
R2222 |
T3458 |
T3450 |
aux |
do,correlate |
R2223 |
T3459 |
T3450 |
neg |
not,correlate |
R2224 |
T3460 |
T3450 |
advmod |
always,correlate |
R2225 |
T3461 |
T3450 |
prep |
with,correlate |
R2226 |
T3462 |
T3463 |
det |
the,phenotype |
R2227 |
T3463 |
T3461 |
pobj |
phenotype,with |
R2228 |
T3464 |
T3450 |
prep |
at,correlate |
R2229 |
T3465 |
T3466 |
det |
the,level |
R2230 |
T3466 |
T3464 |
pobj |
level,at |
R2231 |
T3467 |
T3466 |
prep |
of,level |
R2232 |
T3468 |
T3469 |
det |
the,organism |
R2233 |
T3469 |
T3467 |
pobj |
organism,of |
R2234 |
T3470 |
T3469 |
amod |
intact,organism |
R2235 |
T3471 |
T3407 |
punct |
.,observed |
R2236 |
T3473 |
T3474 |
nmod |
XpdTTD,KO |
R2237 |
T3474 |
T3476 |
nmod |
KO,cells |
R2238 |
T3475 |
T3474 |
punct |
/,KO |
R2239 |
T3476 |
T3478 |
nsubjpass |
cells,used |
R2240 |
T3477 |
T3476 |
amod |
hemizygous,cells |
R2241 |
T3479 |
T3478 |
auxpass |
were,used |
R2242 |
T3480 |
T3478 |
advmod |
thus,used |
R2243 |
T3481 |
T3478 |
prep |
as,used |
R2244 |
T3482 |
T3483 |
det |
the,baseline |
R2245 |
T3483 |
T3481 |
pobj |
baseline,as |
R2246 |
T3484 |
T3485 |
prep |
on,compare |
R2247 |
T3485 |
T3483 |
relcl |
compare,baseline |
R2248 |
T3486 |
T3484 |
pobj |
which,on |
R2249 |
T3487 |
T3485 |
aux |
to,compare |
R2250 |
T3488 |
T3489 |
det |
the,activity |
R2251 |
T3489 |
T3485 |
dobj |
activity,compare |
R2252 |
T3490 |
T3489 |
prep |
of,activity |
R2253 |
T3491 |
T3492 |
nmod |
compound,cells |
R2254 |
T3492 |
T3490 |
pobj |
cells,of |
R2255 |
T3493 |
T3492 |
amod |
heterozygous,cells |
R2256 |
T3494 |
T3478 |
punct |
.,used |
R2257 |
T3496 |
T3497 |
advcl |
Relative,improved |
R2258 |
T3498 |
T3496 |
prep |
to,Relative |
R2259 |
T3499 |
T3500 |
compound |
XpdTTD,KO |
R2260 |
T3500 |
T3502 |
compound |
KO,cells |
R2261 |
T3501 |
T3500 |
punct |
/,KO |
R2262 |
T3502 |
T3498 |
pobj |
cells,to |
R2263 |
T3503 |
T3502 |
compound |
hemizygote,cells |
R2264 |
T3504 |
T3497 |
punct |
", ",improved |
R2265 |
T3505 |
T3506 |
compound |
UV,survival |
R2266 |
T3506 |
T3497 |
nsubjpass |
survival,improved |
R2267 |
T3507 |
T3497 |
auxpass |
was,improved |
R2268 |
T3508 |
T3497 |
prep |
by,improved |
R2269 |
T3509 |
T3510 |
det |
the,allele |
R2270 |
T3510 |
T3508 |
pobj |
allele,by |
R2271 |
T3511 |
T3510 |
amod |
homozygous,allele |
R2272 |
T3512 |
T3510 |
amod |
lethal,allele |
R2273 |
T3513 |
T3510 |
compound |
Xpd†XPCS,allele |
R2274 |
T3514 |
T3510 |
prep |
in,allele |
R2275 |
T3515 |
T3516 |
nmod |
XpdTTD,†XPCS |
R2276 |
T3516 |
T3518 |
nmod |
†XPCS,cells |
R2277 |
T3517 |
T3516 |
punct |
/,†XPCS |
R2278 |
T3518 |
T3514 |
pobj |
cells,in |
R2279 |
T3519 |
T3518 |
nmod |
compound,cells |
R2280 |
T3520 |
T3518 |
amod |
heterozygous,cells |
R2281 |
T3521 |
T3508 |
cc |
and,by |
R2282 |
T3522 |
T3523 |
prep |
to,by |
R2283 |
T3523 |
T3508 |
conj |
by,by |
R2284 |
T3524 |
T3525 |
det |
a,degree |
R2285 |
T3525 |
T3522 |
pobj |
degree,to |
R2286 |
T3526 |
T3525 |
amod |
lesser,degree |
R2287 |
T3527 |
T3528 |
det |
the,allele |
R2288 |
T3528 |
T3523 |
pobj |
allele,by |
R2289 |
T3529 |
T3528 |
compound |
Xpd†XP,allele |
R2290 |
T3530 |
T3531 |
punct |
(,4A |
R2291 |
T3531 |
T3497 |
parataxis |
4A,improved |
R2292 |
T3532 |
T3531 |
compound |
Figure,4A |
R2293 |
T3533 |
T3531 |
punct |
),4A |
R2294 |
T3534 |
T3497 |
punct |
.,improved |
R2295 |
T3536 |
T3537 |
prep |
Because,were |
R2296 |
T3538 |
T3536 |
pcomp |
of,Because |
R2297 |
T3539 |
T3540 |
amod |
embryonic,lethality |
R2298 |
T3540 |
T3536 |
pobj |
lethality,Because |
R2299 |
T3541 |
T3539 |
cc |
and,embryonic |
R2300 |
T3542 |
T3539 |
conj |
cellular,embryonic |
R2301 |
T3543 |
T3537 |
punct |
", ",were |
R2302 |
T3544 |
T3537 |
nsubj |
we,were |
R2303 |
T3545 |
T3537 |
acomp |
unable,were |
R2304 |
T3546 |
T3547 |
aux |
to,test |
R2305 |
T3547 |
T3545 |
xcomp |
test,unable |
R2306 |
T3548 |
T3549 |
compound |
UV,survival |
R2307 |
T3549 |
T3547 |
dobj |
survival,test |
R2308 |
T3550 |
T3549 |
acl |
associated,survival |
R2309 |
T3551 |
T3550 |
advmod |
exclusively,associated |
R2310 |
T3552 |
T3550 |
prep |
with,associated |
R2311 |
T3553 |
T3554 |
det |
the,alleles |
R2312 |
T3554 |
T3552 |
pobj |
alleles,with |
R2313 |
T3555 |
T3554 |
nmod |
Xpd†XPCS,alleles |
R2314 |
T3556 |
T3555 |
cc |
or,Xpd†XPCS |
R2315 |
T3557 |
T3555 |
conj |
Xpd†XP,Xpd†XPCS |
R2316 |
T3558 |
T3537 |
punct |
.,were |
R2317 |
T3560 |
T3561 |
advmod |
However,known |
R2318 |
T3562 |
T3561 |
punct |
", ",known |
R2319 |
T3563 |
T3564 |
amod |
homozygous,XPDXP |
R2320 |
T3564 |
T3565 |
nmod |
XPDXP,cells |
R2321 |
T3565 |
T3561 |
nsubjpass |
cells,known |
R2322 |
T3566 |
T3567 |
punct |
(,XPDR683W |
R2323 |
T3567 |
T3564 |
parataxis |
XPDR683W,XPDXP |
R2324 |
T3568 |
T3567 |
punct |
),XPDR683W |
R2325 |
T3569 |
T3564 |
cc |
and,XPDXP |
R2326 |
T3570 |
T3571 |
amod |
hemizygous,XPDXPCS |
R2327 |
T3571 |
T3564 |
conj |
XPDXPCS,XPDXP |
R2328 |
T3572 |
T3573 |
punct |
(,XPDG602D |
R2329 |
T3573 |
T3571 |
parataxis |
XPDG602D,XPDXPCS |
R2330 |
T3574 |
T3573 |
punct |
),XPDG602D |
R2331 |
T3575 |
T3565 |
amod |
human,cells |
R2332 |
T3576 |
T3561 |
auxpass |
are,known |
R2333 |
T3577 |
T3578 |
aux |
to,be |
R2334 |
T3578 |
T3561 |
xcomp |
be,known |
R2335 |
T3579 |
T3580 |
advmod |
highly,sensitive |
R2336 |
T3580 |
T3578 |
acomp |
sensitive,be |
R2337 |
T3581 |
T3580 |
prep |
to,sensitive |
R2338 |
T3582 |
T3581 |
pobj |
UV,to |
R2339 |
T3583 |
T3584 |
punct |
[,25 |
R2340 |
T3584 |
T3578 |
parataxis |
25,be |
R2341 |
T3585 |
T3584 |
nummod |
19,25 |
R2342 |
T3586 |
T3584 |
punct |
",",25 |
R2343 |
T3587 |
T3584 |
punct |
],25 |
R2344 |
T3588 |
T3561 |
punct |
", ",known |
R2345 |
T3589 |
T3590 |
mark |
as,are |
R2346 |
T3590 |
T3561 |
advcl |
are,known |
R2347 |
T3591 |
T3590 |
nsubj |
cells,are |
R2348 |
T3592 |
T3591 |
prep |
from,cells |
R2349 |
T3593 |
T3594 |
det |
a,model |
R2350 |
T3594 |
T3592 |
pobj |
model,from |
R2351 |
T3595 |
T3594 |
amod |
homozygous,model |
R2352 |
T3596 |
T3594 |
amod |
viable,model |
R2353 |
T3597 |
T3598 |
nmod |
XpdXPCS,XPCS |
R2354 |
T3598 |
T3594 |
nmod |
XPCS,model |
R2355 |
T3599 |
T3598 |
punct |
/,XPCS |
R2356 |
T3600 |
T3601 |
punct |
(,G602D |
R2357 |
T3601 |
T3598 |
parataxis |
G602D,XPCS |
R2358 |
T3602 |
T3601 |
compound |
XPDG602D,G602D |
R2359 |
T3603 |
T3601 |
punct |
/,G602D |
R2360 |
T3604 |
T3601 |
punct |
),G602D |
R2361 |
T3605 |
T3594 |
compound |
mouse,model |
R2362 |
T3606 |
T3607 |
punct |
(,4A |
R2363 |
T3607 |
T3590 |
parataxis |
4A,are |
R2364 |
T3608 |
T3607 |
compound |
Figure,4A |
R2365 |
T3609 |
T3607 |
punct |
", ",4A |
R2366 |
T3610 |
T3611 |
amod |
dotted,line |
R2367 |
T3611 |
T3607 |
appos |
line,4A |
R2368 |
T3612 |
T3607 |
punct |
),4A |
R2369 |
T3613 |
T3614 |
punct |
[,23 |
R2370 |
T3614 |
T3561 |
parataxis |
23,known |
R2371 |
T3615 |
T3614 |
punct |
],23 |
R2372 |
T3616 |
T3561 |
punct |
.,known |
R2373 |
T3618 |
T3619 |
advmod |
Thus,represents |
R2374 |
T3620 |
T3619 |
punct |
", ",represents |
R2375 |
T3621 |
T3622 |
det |
the,survival |
R2376 |
T3622 |
T3619 |
nsubj |
survival,represents |
R2377 |
T3623 |
T3622 |
prep |
of,survival |
R2378 |
T3624 |
T3625 |
nmod |
XpdTTD,†XPCS |
R2379 |
T3625 |
T3627 |
nmod |
†XPCS,cells |
R2380 |
T3626 |
T3625 |
punct |
/,†XPCS |
R2381 |
T3627 |
T3623 |
pobj |
cells,of |
R2382 |
T3628 |
T3625 |
punct |
(,†XPCS |
R2383 |
T3629 |
T3625 |
cc |
and,†XPCS |
R2384 |
T3630 |
T3631 |
compound |
XpdTTD,†XP |
R2385 |
T3631 |
T3625 |
conj |
†XP,†XPCS |
R2386 |
T3632 |
T3631 |
punct |
/,†XP |
R2387 |
T3633 |
T3627 |
punct |
),cells |
R2388 |
T3634 |
T3619 |
advmod |
likely,represents |
R2389 |
T3635 |
T3636 |
det |
a,level |
R2390 |
T3636 |
T3619 |
dobj |
level,represents |
R2391 |
T3637 |
T3636 |
prep |
of,level |
R2392 |
T3638 |
T3639 |
compound |
UV,resistance |
R2393 |
T3639 |
T3637 |
pobj |
resistance,of |
R2394 |
T3640 |
T3641 |
dep |
that,impart |
R2395 |
T3641 |
T3636 |
relcl |
impart,level |
R2396 |
T3642 |
T3643 |
preconj |
neither,allele |
R2397 |
T3643 |
T3641 |
nsubj |
allele,impart |
R2398 |
T3644 |
T3643 |
amod |
mutant,allele |
R2399 |
T3645 |
T3641 |
aux |
can,impart |
R2400 |
T3646 |
T3641 |
prep |
on,impart |
R2401 |
T3647 |
T3648 |
poss |
its,own |
R2402 |
T3648 |
T3646 |
pobj |
own,on |
R2403 |
T3649 |
T3650 |
punct |
(,Table |
R2404 |
T3650 |
T3619 |
parataxis |
Table,represents |
R2405 |
T3651 |
T3650 |
nummod |
2,Table |
R2406 |
T3652 |
T3650 |
punct |
),Table |
R2407 |
T3653 |
T3619 |
punct |
.,represents |
R2408 |
T3655 |
T3656 |
amod |
Significant,effects |
R2409 |
T3656 |
T3657 |
nsubjpass |
effects,observed |
R2410 |
T3658 |
T3656 |
prep |
of,effects |
R2411 |
T3659 |
T3660 |
compound |
compound,heterozygosity |
R2412 |
T3660 |
T3658 |
pobj |
heterozygosity,of |
R2413 |
T3661 |
T3656 |
prep |
on,effects |
R2414 |
T3662 |
T3663 |
compound |
NER,subpathways |
R2415 |
T3663 |
T3661 |
pobj |
subpathways,on |
R2416 |
T3664 |
T3656 |
amod |
relative,effects |
R2417 |
T3665 |
T3664 |
prep |
to,relative |
R2418 |
T3666 |
T3667 |
compound |
XpdTTD,KO |
R2419 |
T3667 |
T3669 |
compound |
KO,cells |
R2420 |
T3668 |
T3667 |
punct |
/,KO |
R2421 |
T3669 |
T3665 |
pobj |
cells,to |
R2422 |
T3670 |
T3657 |
auxpass |
were,observed |
R2423 |
T3671 |
T3657 |
prep |
in,observed |
R2424 |
T3672 |
T3673 |
compound |
XpdTTD,†XP |
R2425 |
T3673 |
T3675 |
compound |
†XP,cells |
R2426 |
T3674 |
T3673 |
punct |
/,†XP |
R2427 |
T3675 |
T3671 |
pobj |
cells,in |
R2428 |
T3676 |
T3671 |
cc |
but,in |
R2429 |
T3677 |
T3678 |
advmod |
only,for |
R2430 |
T3678 |
T3671 |
conj |
for,in |
R2431 |
T3679 |
T3680 |
compound |
UV,UDS |
R2432 |
T3680 |
T3682 |
compound |
UDS,activity |
R2433 |
T3681 |
T3680 |
punct |
-,UDS |
R2434 |
T3682 |
T3678 |
pobj |
activity,for |
R2435 |
T3683 |
T3657 |
punct |
.,observed |
R2436 |
T3685 |
T3686 |
advmod |
Finally,exhibited |
R2437 |
T3687 |
T3686 |
punct |
", ",exhibited |
R2438 |
T3688 |
T3686 |
nsubj |
none,exhibited |
R2439 |
T3689 |
T3688 |
prep |
of,none |
R2440 |
T3690 |
T3691 |
det |
the,combinations |
R2441 |
T3691 |
T3689 |
pobj |
combinations,of |
R2442 |
T3692 |
T3691 |
amod |
mutant,combinations |
R2443 |
T3693 |
T3691 |
compound |
TFIIH,combinations |
R2444 |
T3694 |
T3691 |
punct |
(,combinations |
R2445 |
T3695 |
T3691 |
acl |
carrying,combinations |
R2446 |
T3696 |
T3695 |
dobj |
alterations,carrying |
R2447 |
T3697 |
T3696 |
acl |
associated,alterations |
R2448 |
T3698 |
T3697 |
prep |
with,associated |
R2449 |
T3699 |
T3698 |
pobj |
TTD,with |
R2450 |
T3700 |
T3701 |
punct |
[,XPDR722W |
R2451 |
T3701 |
T3699 |
parataxis |
XPDR722W,TTD |
R2452 |
T3702 |
T3701 |
punct |
],XPDR722W |
R2453 |
T3703 |
T3699 |
punct |
", ",TTD |
R2454 |
T3704 |
T3699 |
conj |
XPCS,TTD |
R2455 |
T3705 |
T3706 |
punct |
[,XPDG602D |
R2456 |
T3706 |
T3704 |
parataxis |
XPDG602D,XPCS |
R2457 |
T3707 |
T3706 |
punct |
],XPDG602D |
R2458 |
T3708 |
T3704 |
punct |
", ",XPCS |
R2459 |
T3709 |
T3704 |
cc |
or,XPCS |
R246 |
T565 |
T566 |
amod |
Interallelic,complementation |
R2460 |
T3710 |
T3704 |
conj |
XP,XPCS |
R2461 |
T3711 |
T3712 |
punct |
[,XPDR683W |
R2462 |
T3712 |
T3710 |
parataxis |
XPDR683W,XP |
R2463 |
T3713 |
T3712 |
punct |
],XPDR683W |
R2464 |
T3714 |
T3686 |
punct |
),exhibited |
R2465 |
T3715 |
T3686 |
dobj |
synergism,exhibited |
R2466 |
T3716 |
T3686 |
prep |
in,exhibited |
R2467 |
T3717 |
T3718 |
det |
an,reaction |
R2468 |
T3718 |
T3716 |
pobj |
reaction,in |
R2469 |
T3719 |
T3720 |
advmod |
in,vitro |
R247 |
T566 |
T567 |
nsubjpass |
complementation,defined |
R2470 |
T3720 |
T3718 |
amod |
vitro,reaction |
R2471 |
T3721 |
T3718 |
compound |
NER,reaction |
R2472 |
T3722 |
T3718 |
acl |
reconstituted,reaction |
R2473 |
T3723 |
T3722 |
prep |
with,reconstituted |
R2474 |
T3724 |
T3725 |
amod |
different,complexes |
R2475 |
T3725 |
T3723 |
pobj |
complexes,with |
R2476 |
T3726 |
T3725 |
amod |
mutant,complexes |
R2477 |
T3727 |
T3725 |
compound |
TFIIH,complexes |
R2478 |
T3728 |
T3729 |
punct |
(,4D |
R2479 |
T3729 |
T3686 |
parataxis |
4D,exhibited |
R248 |
T568 |
T567 |
auxpass |
is,defined |
R2480 |
T3730 |
T3729 |
compound |
Figure,4D |
R2481 |
T3731 |
T3729 |
punct |
),4D |
R2482 |
T3732 |
T3686 |
punct |
.,exhibited |
R2483 |
T3734 |
T3735 |
advcl |
Taken,are |
R2484 |
T3736 |
T3734 |
advmod |
together,Taken |
R2485 |
T3737 |
T3735 |
punct |
", ",are |
R2486 |
T3738 |
T3739 |
det |
these,data |
R2487 |
T3739 |
T3735 |
nsubj |
data,are |
R2488 |
T3740 |
T3735 |
acomp |
consistent,are |
R2489 |
T3741 |
T3740 |
prep |
with,consistent |
R249 |
T569 |
T567 |
prep |
as,defined |
R2490 |
T3742 |
T3743 |
amod |
interallelic,complementation |
R2491 |
T3743 |
T3741 |
pobj |
complementation,with |
R2492 |
T3744 |
T3743 |
prep |
of,complementation |
R2493 |
T3745 |
T3746 |
compound |
UV,sensitivity |
R2494 |
T3746 |
T3744 |
pobj |
sensitivity,of |
R2495 |
T3747 |
T3743 |
prep |
in,complementation |
R2496 |
T3748 |
T3747 |
pobj |
cells,in |
R2497 |
T3749 |
T3735 |
cc |
but,are |
R2498 |
T3750 |
T3735 |
conj |
underscore,are |
R2499 |
T3751 |
T3752 |
det |
the,lack |
R250 |
T570 |
T571 |
det |
the,ability |
R2500 |
T3752 |
T3750 |
dobj |
lack,underscore |
R2501 |
T3753 |
T3752 |
prep |
of,lack |
R2502 |
T3754 |
T3755 |
det |
any,correlation |
R2503 |
T3755 |
T3753 |
pobj |
correlation,of |
R2504 |
T3756 |
T3755 |
prep |
between,correlation |
R2505 |
T3757 |
T3758 |
npadvmod |
UV,related |
R2506 |
T3758 |
T3760 |
amod |
related,characteristics |
R2507 |
T3759 |
T3758 |
punct |
-,related |
R2508 |
T3760 |
T3756 |
pobj |
characteristics,between |
R2509 |
T3761 |
T3760 |
compound |
repair,characteristics |
R251 |
T571 |
T569 |
pobj |
ability,as |
R2510 |
T3762 |
T3760 |
cc |
and,characteristics |
R2511 |
T3763 |
T3764 |
compound |
TTD,phenotypes |
R2512 |
T3764 |
T3760 |
conj |
phenotypes,characteristics |
R2513 |
T3765 |
T3764 |
compound |
progeroid,phenotypes |
R2514 |
T3766 |
T3755 |
prep |
in,correlation |
R2515 |
T3767 |
T3768 |
compound |
animal,models |
R2516 |
T3768 |
T3766 |
pobj |
models,in |
R2517 |
T3769 |
T3735 |
punct |
.,are |
R2518 |
T3778 |
T3779 |
nsubj |
sk,e |
R2519 |
T3779 |
T3780 |
ccomp |
e,t |
R252 |
T572 |
T571 |
prep |
of,ability |
R2520 |
T3781 |
T3779 |
dobj |
d,e |
R2521 |
T3782 |
T3781 |
prep |
wh,d |
R2522 |
T3783 |
T3780 |
nsubj |
e,t |
R2523 |
T3789 |
T3790 |
det |
h,e |
R2524 |
T3798 |
T3797 |
cc |
and,†XPCS |
R2525 |
T3799 |
T3800 |
compound |
Xpd,†XP |
R2526 |
T3800 |
T3797 |
conj |
†XP,†XPCS |
R2527 |
T3801 |
T3802 |
amod |
a,l |
R2528 |
T3804 |
T3805 |
nsubj |
l,e |
R2529 |
T3806 |
T3805 |
dobj |
les,e |
R253 |
T573 |
T574 |
nummod |
two,alleles |
R2530 |
T3812 |
T3811 |
pobj |
e,it |
R2531 |
T3817 |
T3818 |
amod |
re,a |
R2532 |
T3821 |
T3820 |
cc |
d,e |
R2533 |
T3822 |
T3820 |
conj |
m,e |
R2534 |
T3826 |
T3825 |
compound |
RNA,levels |
R2535 |
T3827 |
T3824 |
punct |
", ",ameliorated |
R2536 |
T3828 |
T3829 |
compound |
TTD,symptoms |
R2537 |
T3829 |
T3824 |
dobj |
symptoms,ameliorated |
R2538 |
T3830 |
T3824 |
prep |
by,ameliorated |
R2539 |
T3831 |
T3832 |
amod |
increasing,levels |
R254 |
T574 |
T572 |
pobj |
alleles,of |
R2540 |
T3832 |
T3830 |
pobj |
levels,by |
R2541 |
T3833 |
T3832 |
amod |
overall,levels |
R2542 |
T3834 |
T3832 |
compound |
TFIIH,levels |
R2543 |
T3835 |
T3824 |
prep |
in,ameliorated |
R2544 |
T3836 |
T3837 |
nmod |
compound,cells |
R2545 |
T3837 |
T3835 |
pobj |
cells,in |
R2546 |
T3838 |
T3837 |
amod |
heterozygous,cells |
R2547 |
T3839 |
T3840 |
nmod |
XpdTTD, †XPCS |
R2548 |
T3840 |
T3837 |
nmod |
†XPCS,cells |
R2549 |
T3841 |
T3840 |
punct |
/, †XPCS |
R255 |
T575 |
T576 |
advmod |
differentially,mutated |
R2550 |
T3842 |
T3840 |
cc |
and, †XPCS |
R2551 |
T3843 |
T3844 |
compound |
XpdTTD, †XP |
R2552 |
T3844 |
T3840 |
conj |
†XP, †XPCS |
R2553 |
T3845 |
T3844 |
punct |
/, †XP |
R2554 |
T3848 |
T3849 |
advmod |
Previously,shown |
R2555 |
T3850 |
T3849 |
punct |
", ",shown |
R2556 |
T3851 |
T3849 |
advcl |
using,shown |
R2557 |
T3852 |
T3853 |
amod |
comparative,immunohistochemistry |
R2558 |
T3853 |
T3851 |
dobj |
immunohistochemistry,using |
R2559 |
T3854 |
T3849 |
punct |
", ",shown |
R256 |
T576 |
T574 |
amod |
mutated,alleles |
R2560 |
T3855 |
T3849 |
nsubj |
we,shown |
R2561 |
T3856 |
T3855 |
cc |
and,we |
R2562 |
T3857 |
T3855 |
conj |
others,we |
R2563 |
T3858 |
T3849 |
aux |
have,shown |
R2564 |
T3859 |
T3860 |
det |
an,reduction |
R2565 |
T3860 |
T3849 |
dobj |
reduction,shown |
R2566 |
T3861 |
T3862 |
quantmod |
up,70 |
R2567 |
T3862 |
T3864 |
nummod |
70,% |
R2568 |
T3863 |
T3862 |
quantmod |
to,70 |
R2569 |
T3864 |
T3860 |
compound |
%,reduction |
R257 |
T577 |
T578 |
aux |
to,function |
R2570 |
T3865 |
T3860 |
prep |
of,reduction |
R2571 |
T3866 |
T3867 |
compound |
TFIIH,levels |
R2572 |
T3867 |
T3865 |
pobj |
levels,of |
R2573 |
T3868 |
T3867 |
prep |
in,levels |
R2574 |
T3869 |
T3870 |
amod |
primary,fibroblasts |
R2575 |
T3870 |
T3868 |
pobj |
fibroblasts,in |
R2576 |
T3871 |
T3870 |
prep |
from,fibroblasts |
R2577 |
T3872 |
T3871 |
pobj |
patients,from |
R2578 |
T3873 |
T3872 |
prep |
with,patients |
R2579 |
T3874 |
T3873 |
pobj |
TTD,with |
R258 |
T578 |
T571 |
acl |
function,ability |
R2580 |
T3875 |
T3860 |
prep |
compared,reduction |
R2581 |
T3876 |
T3875 |
prep |
with,compared |
R2582 |
T3877 |
T3878 |
compound |
wt,controls |
R2583 |
T3878 |
T3876 |
pobj |
controls,with |
R2584 |
T3879 |
T3860 |
prep |
due,reduction |
R2585 |
T3880 |
T3879 |
pcomp |
to,due |
R2586 |
T3881 |
T3882 |
amod |
reduced,stability |
R2587 |
T3882 |
T3879 |
pobj |
stability,due |
R2588 |
T3883 |
T3884 |
punct |
[,17 |
R2589 |
T3884 |
T3849 |
parataxis |
17,shown |
R259 |
T579 |
T578 |
advmod |
better,function |
R2590 |
T3885 |
T3884 |
nummod |
16,17 |
R2591 |
T3886 |
T3884 |
punct |
",",17 |
R2592 |
T3887 |
T3884 |
punct |
],17 |
R2593 |
T3888 |
T3849 |
punct |
.,shown |
R2594 |
T3890 |
T3891 |
prep |
Despite,reduced |
R2595 |
T3892 |
T3890 |
pobj |
overexpression,Despite |
R2596 |
T3893 |
T3892 |
prep |
of,overexpression |
R2597 |
T3894 |
T3893 |
pobj |
mRNA,of |
R2598 |
T3895 |
T3894 |
prep |
from,mRNA |
R2599 |
T3896 |
T3897 |
det |
the,allele |
R260 |
T580 |
T578 |
advmod |
together,function |
R2600 |
T3897 |
T3895 |
pobj |
allele,from |
R2601 |
T3898 |
T3897 |
compound |
XpdTTD,allele |
R2602 |
T3899 |
T3892 |
amod |
relative,overexpression |
R2603 |
T3900 |
T3899 |
prep |
to,relative |
R2604 |
T3901 |
T3902 |
det |
the,allele |
R2605 |
T3902 |
T3900 |
pobj |
allele,to |
R2606 |
T3903 |
T3902 |
compound |
wt,allele |
R2607 |
T3904 |
T3905 |
punct |
(,1E |
R2608 |
T3905 |
T3892 |
parataxis |
1E,overexpression |
R2609 |
T3906 |
T3905 |
compound |
Figure,1E |
R261 |
T581 |
T582 |
mark |
than,can |
R2610 |
T3907 |
T3905 |
punct |
),1E |
R2611 |
T3908 |
T3891 |
punct |
", ",reduced |
R2612 |
T3909 |
T3910 |
compound |
TFIIH,levels |
R2613 |
T3910 |
T3891 |
nsubjpass |
levels,reduced |
R2614 |
T3911 |
T3910 |
compound |
protein,levels |
R2615 |
T3912 |
T3891 |
auxpass |
were,reduced |
R2616 |
T3913 |
T3891 |
prep |
by,reduced |
R2617 |
T3914 |
T3915 |
nummod |
50,% |
R2618 |
T3915 |
T3913 |
pobj |
%,by |
R2619 |
T3916 |
T3891 |
prep |
in,reduced |
R262 |
T582 |
T578 |
advcl |
can,function |
R2620 |
T3917 |
T3918 |
amod |
primary,fibroblasts |
R2621 |
T3918 |
T3916 |
pobj |
fibroblasts,in |
R2622 |
T3919 |
T3918 |
compound |
mouse,fibroblasts |
R2623 |
T3920 |
T3921 |
compound |
XpdTTD,TTD |
R2624 |
T3921 |
T3918 |
compound |
TTD,fibroblasts |
R2625 |
T3922 |
T3921 |
punct |
/,TTD |
R2626 |
T3923 |
T3924 |
punct |
(,4E |
R2627 |
T3924 |
T3891 |
parataxis |
4E,reduced |
R2628 |
T3925 |
T3924 |
compound |
Figure,4E |
R2629 |
T3926 |
T3924 |
cc |
and,4E |
R263 |
T583 |
T582 |
nsubj |
either,can |
R2630 |
T3927 |
T3924 |
conj |
4F,4E |
R2631 |
T3928 |
T3924 |
punct |
),4E |
R2632 |
T3929 |
T3891 |
punct |
", ",reduced |
R2633 |
T3930 |
T3931 |
advmod |
thereby,mimicking |
R2634 |
T3931 |
T3891 |
advcl |
mimicking,reduced |
R2635 |
T3932 |
T3933 |
det |
the,situation |
R2636 |
T3933 |
T3931 |
dobj |
situation,mimicking |
R2637 |
T3934 |
T3931 |
prep |
in,mimicking |
R2638 |
T3935 |
T3936 |
amod |
human,patients |
R2639 |
T3936 |
T3934 |
pobj |
patients,in |
R264 |
T584 |
T582 |
prep |
on,can |
R2640 |
T3937 |
T3936 |
prep |
with,patients |
R2641 |
T3938 |
T3937 |
pobj |
TTD,with |
R2642 |
T3939 |
T3891 |
punct |
.,reduced |
R2643 |
T3941 |
T3942 |
prep |
In,observed |
R2644 |
T3943 |
T3941 |
pobj |
accordance,In |
R2645 |
T3944 |
T3943 |
prep |
with,accordance |
R2646 |
T3945 |
T3946 |
det |
the,dosage |
R2647 |
T3946 |
T3944 |
pobj |
dosage,with |
R2648 |
T3947 |
T3946 |
compound |
gene,dosage |
R2649 |
T3948 |
T3942 |
punct |
", ",observed |
R265 |
T585 |
T586 |
poss |
its,own |
R2650 |
T3949 |
T3950 |
det |
a,reduction |
R2651 |
T3950 |
T3942 |
nsubjpass |
reduction,observed |
R2652 |
T3951 |
T3950 |
amod |
further,reduction |
R2653 |
T3952 |
T3950 |
prep |
of,reduction |
R2654 |
T3953 |
T3954 |
quantmod |
up,70 |
R2655 |
T3954 |
T3956 |
nummod |
70,% |
R2656 |
T3955 |
T3954 |
quantmod |
to,70 |
R2657 |
T3956 |
T3952 |
pobj |
%,of |
R2658 |
T3957 |
T3956 |
prep |
of,% |
R2659 |
T3958 |
T3959 |
det |
the,level |
R266 |
T586 |
T584 |
pobj |
own,on |
R2660 |
T3959 |
T3957 |
pobj |
level,of |
R2661 |
T3960 |
T3959 |
compound |
wt,level |
R2662 |
T3961 |
T3942 |
auxpass |
was,observed |
R2663 |
T3962 |
T3942 |
prep |
in,observed |
R2664 |
T3963 |
T3964 |
amod |
hemizygous,cells |
R2665 |
T3964 |
T3962 |
pobj |
cells,in |
R2666 |
T3965 |
T3966 |
compound |
XpdTTD,KO |
R2667 |
T3966 |
T3964 |
compound |
KO,cells |
R2668 |
T3967 |
T3966 |
punct |
/,KO |
R2669 |
T3968 |
T3942 |
punct |
.,observed |
R267 |
T587 |
T567 |
punct |
.,defined |
R2670 |
T3970 |
T3971 |
advcl |
Consistent,was |
R2671 |
T3972 |
T3970 |
prep |
with,Consistent |
R2672 |
T3973 |
T3974 |
amod |
low,levels |
R2673 |
T3974 |
T3972 |
pobj |
levels,with |
R2674 |
T3975 |
T3976 |
compound |
mRNA,expression |
R2675 |
T3976 |
T3974 |
compound |
expression,levels |
R2676 |
T3977 |
T3971 |
punct |
", ",was |
R2677 |
T3978 |
T3979 |
preconj |
neither,allele |
R2678 |
T3979 |
T3971 |
nsubj |
allele,was |
R2679 |
T3980 |
T3981 |
det |
the,Xpd†XPCS |
R268 |
T589 |
T590 |
prep |
Despite,considered |
R2680 |
T3981 |
T3979 |
nmod |
Xpd†XPCS,allele |
R2681 |
T3982 |
T3981 |
cc |
nor,Xpd†XPCS |
R2682 |
T3983 |
T3984 |
det |
the,Xpd†XP |
R2683 |
T3984 |
T3981 |
conj |
Xpd†XP,Xpd†XPCS |
R2684 |
T3985 |
T3971 |
acomp |
able,was |
R2685 |
T3986 |
T3987 |
aux |
to,restore |
R2686 |
T3987 |
T3985 |
xcomp |
restore,able |
R2687 |
T3988 |
T3989 |
compound |
TFIIH,abundance |
R2688 |
T3989 |
T3987 |
dobj |
abundance,restore |
R2689 |
T3990 |
T3987 |
prep |
to,restore |
R269 |
T591 |
T592 |
poss |
its,universality |
R2690 |
T3991 |
T3992 |
compound |
wt,levels |
R2691 |
T3992 |
T3990 |
pobj |
levels,to |
R2692 |
T3993 |
T3987 |
prep |
in,restore |
R2693 |
T3994 |
T3995 |
compound |
XpdTTD,cells |
R2694 |
T3995 |
T3993 |
pobj |
cells,in |
R2695 |
T3996 |
T3995 |
compound |
compound,cells |
R2696 |
T3997 |
T3995 |
compound |
heterozygote,cells |
R2697 |
T3998 |
T3999 |
punct |
(,4E |
R2698 |
T3999 |
T3971 |
parataxis |
4E,was |
R2699 |
T4000 |
T3999 |
compound |
Figure,4E |
R270 |
T592 |
T589 |
pobj |
universality,Despite |
R2700 |
T4001 |
T3999 |
cc |
and,4E |
R2701 |
T4002 |
T3999 |
conj |
4F,4E |
R2702 |
T4003 |
T3999 |
punct |
),4E |
R2703 |
T4004 |
T3971 |
punct |
.,was |
R2704 |
T4006 |
T4007 |
advmod |
Thus,were |
R2705 |
T4008 |
T4007 |
punct |
", ",were |
R2706 |
T4009 |
T4010 |
det |
the,survival |
R2707 |
T4010 |
T4007 |
nsubj |
survival,were |
R2708 |
T4011 |
T4010 |
amod |
improved,survival |
R2709 |
T4012 |
T4010 |
compound |
UV,survival |
R271 |
T593 |
T592 |
amod |
near,universality |
R2710 |
T4013 |
T4010 |
acl |
observed,survival |
R2711 |
T4014 |
T4013 |
prep |
in,observed |
R2712 |
T4015 |
T4016 |
compound |
compound,cells |
R2713 |
T4016 |
T4014 |
pobj |
cells,in |
R2714 |
T4017 |
T4016 |
compound |
heterozygote,cells |
R2715 |
T4018 |
T4019 |
punct |
(,4A |
R2716 |
T4019 |
T4013 |
parataxis |
4A,observed |
R2717 |
T4020 |
T4019 |
compound |
Figure,4A |
R2718 |
T4021 |
T4019 |
punct |
),4A |
R2719 |
T4022 |
T4013 |
cc |
and,observed |
R272 |
T594 |
T592 |
prep |
in,universality |
R2720 |
T4023 |
T4024 |
advmod |
likely,rescue |
R2721 |
T4024 |
T4013 |
conj |
rescue,observed |
R2722 |
T4025 |
T4024 |
det |
the,rescue |
R2723 |
T4026 |
T4024 |
prep |
of,rescue |
R2724 |
T4027 |
T4028 |
compound |
TTD,symptoms |
R2725 |
T4028 |
T4026 |
pobj |
symptoms,of |
R2726 |
T4029 |
T4028 |
compound |
progeroid,symptoms |
R2727 |
T4030 |
T4031 |
punct |
(,Figure |
R2728 |
T4031 |
T4024 |
parataxis |
Figure,rescue |
R2729 |
T4032 |
T4031 |
nummod |
3,Figure |
R273 |
T595 |
T596 |
amod |
lower,organisms |
R2730 |
T4033 |
T4031 |
punct |
),Figure |
R2731 |
T4034 |
T4007 |
neg |
not,were |
R2732 |
T4035 |
T4007 |
prep |
due,were |
R2733 |
T4036 |
T4035 |
pcomp |
to,due |
R2734 |
T4037 |
T4035 |
pobj |
normalisation,due |
R2735 |
T4038 |
T4037 |
prep |
of,normalisation |
R2736 |
T4039 |
T4040 |
compound |
TFIIH,levels |
R2737 |
T4040 |
T4038 |
pobj |
levels,of |
R2738 |
T4041 |
T4007 |
punct |
", ",were |
R2739 |
T4042 |
T4007 |
advcl |
suggesting,were |
R274 |
T596 |
T594 |
pobj |
organisms,in |
R2740 |
T4043 |
T4044 |
advmod |
a,qualitative |
R2741 |
T4044 |
T4045 |
amod |
qualitative,effect |
R2742 |
T4045 |
T4042 |
dobj |
effect,suggesting |
R2743 |
T4046 |
T4047 |
advmod |
rather,than |
R2744 |
T4047 |
T4044 |
cc |
than,qualitative |
R2745 |
T4048 |
T4049 |
advmod |
a,quantitative |
R2746 |
T4049 |
T4044 |
conj |
quantitative,qualitative |
R2747 |
T4050 |
T4045 |
prep |
on,effect |
R2748 |
T4051 |
T4052 |
det |
these,phenotypes |
R2749 |
T4052 |
T4050 |
pobj |
phenotypes,on |
R275 |
T597 |
T598 |
punct |
[,1 |
R2750 |
T4053 |
T4054 |
advmod |
in,vivo |
R2751 |
T4054 |
T4045 |
advmod |
vivo,effect |
R2752 |
T4055 |
T4007 |
punct |
.,were |
R2753 |
T4057 |
T4058 |
prep |
In,affect |
R2754 |
T4059 |
T4057 |
pobj |
contrast,In |
R2755 |
T4060 |
T4058 |
punct |
", ",affect |
R2756 |
T4061 |
T4062 |
det |
the,level |
R2757 |
T4062 |
T4058 |
nsubj |
level,affect |
R2758 |
T4063 |
T4062 |
prep |
of,level |
R2759 |
T4064 |
T4065 |
compound |
XPCS,expression |
R276 |
T598 |
T596 |
parataxis |
1,organisms |
R2760 |
T4065 |
T4063 |
pobj |
expression,of |
R2761 |
T4066 |
T4065 |
compound |
mRNA,expression |
R2762 |
T4067 |
T4058 |
aux |
did,affect |
R2763 |
T4068 |
T4069 |
det |
the,ability |
R2764 |
T4069 |
T4058 |
dobj |
ability,affect |
R2765 |
T4070 |
T4069 |
prep |
of,ability |
R2766 |
T4071 |
T4072 |
det |
the,protein |
R2767 |
T4072 |
T4070 |
pobj |
protein,of |
R2768 |
T4073 |
T4072 |
amod |
encoded,protein |
R2769 |
T4074 |
T4072 |
punct |
(,protein |
R277 |
T599 |
T598 |
punct |
],1 |
R2770 |
T4075 |
T4072 |
appos |
XPDG602D,protein |
R2771 |
T4076 |
T4069 |
punct |
),ability |
R2772 |
T4077 |
T4078 |
aux |
to,restore |
R2773 |
T4078 |
T4069 |
acl |
restore,ability |
R2774 |
T4079 |
T4080 |
det |
the,phenotype |
R2775 |
T4080 |
T4078 |
dobj |
phenotype,restore |
R2776 |
T4081 |
T4080 |
compound |
TTD,phenotype |
R2777 |
T4082 |
T4080 |
compound |
hair,phenotype |
R2778 |
T4083 |
T4078 |
prep |
to,restore |
R2779 |
T4084 |
T4083 |
amod |
normal,to |
R278 |
T600 |
T590 |
punct |
", ",considered |
R2780 |
T4085 |
T4058 |
punct |
.,affect |
R2781 |
T4087 |
T4088 |
advmod |
Notably,had |
R2782 |
T4089 |
T4088 |
punct |
", ",had |
R2783 |
T4090 |
T4091 |
compound |
XpdTTD, †XPCS |
R2784 |
T4091 |
T4093 |
compound |
†XPCS,animals |
R2785 |
T4092 |
T4091 |
punct |
/, †XPCS |
R2786 |
T4093 |
T4088 |
nsubj |
animals,had |
R2787 |
T4094 |
T4095 |
det |
a,phenotype |
R2788 |
T4095 |
T4088 |
dobj |
phenotype,had |
R2789 |
T4096 |
T4095 |
amod |
partial,phenotype |
R279 |
T601 |
T602 |
poss |
its,potential |
R2790 |
T4097 |
T4095 |
compound |
TTD,phenotype |
R2791 |
T4098 |
T4095 |
compound |
hair,phenotype |
R2792 |
T4099 |
T4095 |
punct |
", ",phenotype |
R2793 |
T4100 |
T4095 |
acl |
correlating,phenotype |
R2794 |
T4101 |
T4100 |
prep |
with,correlating |
R2795 |
T4102 |
T4103 |
amod |
low,levels |
R2796 |
T4103 |
T4101 |
pobj |
levels,with |
R2797 |
T4104 |
T4103 |
prep |
of,levels |
R2798 |
T4105 |
T4106 |
compound |
Xpd†XPCS,expression |
R2799 |
T4106 |
T4104 |
pobj |
expression,of |
R280 |
T602 |
T590 |
nsubjpass |
potential,considered |
R2800 |
T4107 |
T4088 |
punct |
", ",had |
R2801 |
T4108 |
T4109 |
mark |
whereas,had |
R2802 |
T4109 |
T4088 |
advcl |
had,had |
R2803 |
T4110 |
T4111 |
compound |
XpdTTD,XPCS |
R2804 |
T4111 |
T4113 |
compound |
XPCS,animals |
R2805 |
T4112 |
T4111 |
punct |
/,XPCS |
R2806 |
T4113 |
T4109 |
nsubj |
animals,had |
R2807 |
T4114 |
T4115 |
compound |
wt,hair |
R2808 |
T4115 |
T4109 |
dobj |
hair,had |
R2809 |
T4116 |
T4115 |
punct |
", ",hair |
R281 |
T603 |
T604 |
aux |
to,contribute |
R2810 |
T4117 |
T4115 |
acl |
correlating,hair |
R2811 |
T4118 |
T4117 |
prep |
with,correlating |
R2812 |
T4119 |
T4120 |
amod |
normal,levels |
R2813 |
T4120 |
T4118 |
pobj |
levels,with |
R2814 |
T4121 |
T4120 |
compound |
expression,levels |
R2815 |
T4122 |
T4120 |
prep |
from,levels |
R2816 |
T4123 |
T4124 |
det |
the,allele |
R2817 |
T4124 |
T4122 |
pobj |
allele,from |
R2818 |
T4125 |
T4124 |
amod |
viable,allele |
R2819 |
T4126 |
T4124 |
compound |
XpdXPCS,allele |
R282 |
T604 |
T602 |
acl |
contribute,potential |
R2820 |
T4127 |
T4128 |
punct |
(,Table |
R2821 |
T4128 |
T4088 |
parataxis |
Table,had |
R2822 |
T4129 |
T4128 |
nummod |
2,Table |
R2823 |
T4130 |
T4128 |
cc |
and,Table |
R2824 |
T4131 |
T4132 |
amod |
unpublished,data |
R2825 |
T4132 |
T4128 |
conj |
data,Table |
R2826 |
T4133 |
T4128 |
punct |
),Table |
R2827 |
T4134 |
T4088 |
punct |
.,had |
R2828 |
T4136 |
T4137 |
advmod |
Thus,affected |
R2829 |
T4138 |
T4137 |
punct |
", ",affected |
R283 |
T605 |
T604 |
prep |
to,contribute |
R2830 |
T4139 |
T4140 |
det |
the,range |
R2831 |
T4140 |
T4137 |
nsubj |
range,affected |
R2832 |
T4141 |
T4140 |
prep |
of,range |
R2833 |
T4142 |
T4143 |
compound |
expression,levels |
R2834 |
T4143 |
T4141 |
pobj |
levels,of |
R2835 |
T4144 |
T4140 |
prep |
from,range |
R2836 |
T4145 |
T4146 |
det |
these,alleles |
R2837 |
T4146 |
T4144 |
pobj |
alleles,from |
R2838 |
T4147 |
T4146 |
nummod |
two,alleles |
R2839 |
T4148 |
T4146 |
amod |
mutant,alleles |
R284 |
T606 |
T607 |
amod |
clinical,heterogeneity |
R2840 |
T4149 |
T4150 |
poss |
their,ability |
R2841 |
T4150 |
T4137 |
dobj |
ability,affected |
R2842 |
T4151 |
T4152 |
aux |
to,complement |
R2843 |
T4152 |
T4150 |
acl |
complement,ability |
R2844 |
T4153 |
T4154 |
det |
some,phenotypes |
R2845 |
T4154 |
T4152 |
dobj |
phenotypes,complement |
R2846 |
T4155 |
T4156 |
punct |
(,hair |
R2847 |
T4156 |
T4154 |
parataxis |
hair,phenotypes |
R2848 |
T4157 |
T4156 |
punct |
),hair |
R2849 |
T4158 |
T4137 |
punct |
.,affected |
R285 |
T607 |
T605 |
pobj |
heterogeneity,to |
R2850 |
T4160 |
T4161 |
det |
An,overview |
R2851 |
T4161 |
T4162 |
nsubjpass |
overview,presented |
R2852 |
T4163 |
T4161 |
prep |
of,overview |
R2853 |
T4164 |
T4165 |
det |
the,relationships |
R2854 |
T4165 |
T4163 |
pobj |
relationships,of |
R2855 |
T4166 |
T4165 |
amod |
functional,relationships |
R2856 |
T4167 |
T4165 |
prep |
between,relationships |
R2857 |
T4168 |
T4169 |
compound |
Xpd,alleles |
R2858 |
T4169 |
T4167 |
pobj |
alleles,between |
R2859 |
T4170 |
T4169 |
punct |
", ",alleles |
R286 |
T608 |
T607 |
prep |
in,heterogeneity |
R2860 |
T4171 |
T4169 |
conj |
phenotypes,alleles |
R2861 |
T4172 |
T4171 |
punct |
", ",phenotypes |
R2862 |
T4173 |
T4171 |
cc |
and,phenotypes |
R2863 |
T4174 |
T4175 |
det |
the,function |
R2864 |
T4175 |
T4171 |
conj |
function,phenotypes |
R2865 |
T4176 |
T4175 |
amod |
presumed,function |
R2866 |
T4177 |
T4175 |
amod |
underlying,function |
R2867 |
T4178 |
T4175 |
compound |
TFIIH,function |
R2868 |
T4179 |
T4165 |
prep |
in,relationships |
R2869 |
T4180 |
T4179 |
pobj |
mice,in |
R287 |
T609 |
T610 |
amod |
human,disease |
R2870 |
T4181 |
T4180 |
cc |
and,mice |
R2871 |
T4182 |
T4180 |
conj |
cells,mice |
R2872 |
T4183 |
T4162 |
auxpass |
is,presented |
R2873 |
T4184 |
T4162 |
prep |
in,presented |
R2874 |
T4185 |
T4184 |
pobj |
Table,in |
R2875 |
T4186 |
T4185 |
nummod |
2,Table |
R2876 |
T4187 |
T4162 |
punct |
.,presented |
R2877 |
T4260 |
T4259 |
prep |
of,Dissection |
R2878 |
T4261 |
T4262 |
amod |
Biallelic,Effects |
R2879 |
T4262 |
T4260 |
pobj |
Effects,of |
R288 |
T610 |
T608 |
pobj |
disease,in |
R2880 |
T4263 |
T4259 |
prep |
from,Dissection |
R2881 |
T4264 |
T4265 |
amod |
other,Determinants |
R2882 |
T4265 |
T4263 |
pobj |
Determinants,from |
R2883 |
T4266 |
T4265 |
prep |
of,Determinants |
R2884 |
T4267 |
T4266 |
pobj |
Phenotype,of |
R2885 |
T4269 |
T4270 |
mark |
Although,postulated |
R2886 |
T4270 |
T4293 |
advcl |
postulated,been |
R2887 |
T4271 |
T4272 |
amod |
phenotypic,consequences |
R2888 |
T4272 |
T4270 |
nsubjpass |
consequences,postulated |
R2889 |
T4273 |
T4272 |
punct |
", ",consequences |
R289 |
T611 |
T590 |
auxpass |
is,considered |
R2890 |
T4274 |
T4272 |
acl |
referred,consequences |
R2891 |
T4275 |
T4274 |
prep |
to,referred |
R2892 |
T4276 |
T4274 |
advmod |
here,referred |
R2893 |
T4277 |
T4274 |
prep |
as,referred |
R2894 |
T4278 |
T4279 |
amod |
biallelic,effects |
R2895 |
T4279 |
T4277 |
pobj |
effects,as |
R2896 |
T4280 |
T4272 |
punct |
", ",consequences |
R2897 |
T4281 |
T4272 |
acl |
resulting,consequences |
R2898 |
T4282 |
T4281 |
prep |
from,resulting |
R2899 |
T4283 |
T4284 |
nummod |
two,alleles |
R290 |
T612 |
T590 |
advmod |
seldom,considered |
R2900 |
T4284 |
T4282 |
pobj |
alleles,from |
R2901 |
T4285 |
T4284 |
amod |
different,alleles |
R2902 |
T4286 |
T4284 |
amod |
mutant,alleles |
R2903 |
T4287 |
T4284 |
prep |
in,alleles |
R2904 |
T4288 |
T4289 |
compound |
compound,patients |
R2905 |
T4289 |
T4287 |
pobj |
patients,in |
R2906 |
T4290 |
T4289 |
compound |
heterozygote,patients |
R2907 |
T4291 |
T4270 |
aux |
have,postulated |
R2908 |
T4292 |
T4270 |
auxpass |
been,postulated |
R2909 |
T4294 |
T4293 |
punct |
", ",been |
R291 |
T613 |
T590 |
punct |
.,considered |
R2910 |
T4295 |
T4296 |
amod |
such,effects |
R2911 |
T4296 |
T4293 |
nsubj |
effects,been |
R2912 |
T4297 |
T4293 |
aux |
have,been |
R2913 |
T4298 |
T4293 |
advmod |
historically,been |
R2914 |
T4299 |
T4293 |
acomp |
difficult,been |
R2915 |
T4300 |
T4301 |
aux |
to,distinguish |
R2916 |
T4301 |
T4299 |
xcomp |
distinguish,difficult |
R2917 |
T4302 |
T4301 |
prep |
from,distinguish |
R2918 |
T4303 |
T4304 |
det |
the,influence |
R2919 |
T4304 |
T4302 |
pobj |
influence,from |
R292 |
T615 |
T616 |
nsubjpass |
Evidence,limited |
R2920 |
T4305 |
T4304 |
prep |
of,influence |
R2921 |
T4306 |
T4305 |
pobj |
environment,of |
R2922 |
T4307 |
T4306 |
cc |
and,environment |
R2923 |
T4308 |
T4309 |
amod |
genetic,background |
R2924 |
T4309 |
T4306 |
conj |
background,environment |
R2925 |
T4310 |
T4293 |
punct |
.,been |
R2926 |
T4312 |
T4313 |
nsubj |
We,used |
R2927 |
T4314 |
T4315 |
det |
a,system |
R2928 |
T4315 |
T4313 |
dobj |
system,used |
R2929 |
T4316 |
T4317 |
advmod |
genetically,defined |
R293 |
T617 |
T615 |
prep |
of,Evidence |
R2930 |
T4317 |
T4315 |
amod |
defined,system |
R2931 |
T4318 |
T4315 |
amod |
mammalian,system |
R2932 |
T4319 |
T4315 |
compound |
model,system |
R2933 |
T4320 |
T4313 |
prep |
under,used |
R2934 |
T4321 |
T4322 |
amod |
controlled,conditions |
R2935 |
T4322 |
T4320 |
pobj |
conditions,under |
R2936 |
T4323 |
T4322 |
amod |
environmental,conditions |
R2937 |
T4324 |
T4325 |
aux |
to,reveal |
R2938 |
T4325 |
T4313 |
advcl |
reveal,used |
R2939 |
T4326 |
T4327 |
amod |
phenotypic,effects |
R294 |
T618 |
T619 |
amod |
interallelic,complementation |
R2940 |
T4327 |
T4325 |
dobj |
effects,reveal |
R2941 |
T4328 |
T4327 |
amod |
attributable,effects |
R2942 |
T4329 |
T4330 |
advmod |
specifically,to |
R2943 |
T4330 |
T4328 |
prep |
to,attributable |
R2944 |
T4331 |
T4330 |
pobj |
combinations,to |
R2945 |
T4332 |
T4331 |
prep |
of,combinations |
R2946 |
T4333 |
T4334 |
advmod |
differentially,mutated |
R2947 |
T4334 |
T4335 |
amod |
mutated,alleles |
R2948 |
T4335 |
T4332 |
pobj |
alleles,of |
R2949 |
T4336 |
T4335 |
compound |
Xpd,alleles |
R295 |
T619 |
T617 |
pobj |
complementation,of |
R2950 |
T4337 |
T4313 |
punct |
.,used |
R2951 |
T4339 |
T4340 |
det |
The,effects |
R2952 |
T4340 |
T4343 |
nsubj |
effects,were |
R2953 |
T4341 |
T4340 |
amod |
observed,effects |
R2954 |
T4342 |
T4340 |
amod |
biallelic,effects |
R2955 |
T4344 |
T4343 |
prep |
of,were |
R2956 |
T4345 |
T4346 |
nummod |
three,types |
R2957 |
T4346 |
T4344 |
pobj |
types,of |
R2958 |
T4347 |
T4346 |
amod |
general,types |
R2959 |
T4348 |
T4343 |
punct |
.,were |
R296 |
T620 |
T619 |
prep |
at,complementation |
R2960 |
T4350 |
T4351 |
prep |
In,determined |
R2961 |
T4352 |
T4353 |
det |
the,first |
R2962 |
T4353 |
T4350 |
pobj |
first,In |
R2963 |
T4354 |
T4351 |
punct |
", ",determined |
R2964 |
T4355 |
T4356 |
det |
the,allele |
R2965 |
T4356 |
T4351 |
nsubj |
allele,determined |
R2966 |
T4357 |
T4356 |
acl |
associated,allele |
R2967 |
T4358 |
T4357 |
prep |
in,associated |
R2968 |
T4359 |
T4360 |
det |
a,state |
R2969 |
T4360 |
T4358 |
pobj |
state,in |
R297 |
T621 |
T622 |
advmod |
clinically,relevant |
R2970 |
T4361 |
T4360 |
amod |
homozygous,state |
R2971 |
T4362 |
T4357 |
prep |
with,associated |
R2972 |
T4363 |
T4364 |
det |
a,phenotype |
R2973 |
T4364 |
T4362 |
pobj |
phenotype,with |
R2974 |
T4365 |
T4366 |
advmod |
closer,to |
R2975 |
T4366 |
T4364 |
amod |
to,phenotype |
R2976 |
T4367 |
T4366 |
pobj |
wt,to |
R2977 |
T4368 |
T4351 |
advmod |
singularly,determined |
R2978 |
T4369 |
T4370 |
det |
the,outcome |
R2979 |
T4370 |
T4351 |
dobj |
outcome,determined |
R298 |
T622 |
T623 |
amod |
relevant,loci |
R2980 |
T4371 |
T4370 |
amod |
phenotypic,outcome |
R2981 |
T4372 |
T4351 |
punct |
", ",determined |
R2982 |
T4373 |
T4374 |
det |
a,phenomenon |
R2983 |
T4374 |
T4351 |
npadvmod |
phenomenon,determined |
R2984 |
T4375 |
T4376 |
advmod |
widely,known |
R2985 |
T4376 |
T4374 |
acl |
known,phenomenon |
R2986 |
T4377 |
T4376 |
prep |
in,known |
R2987 |
T4378 |
T4379 |
amod |
human,disease |
R2988 |
T4379 |
T4377 |
pobj |
disease,in |
R2989 |
T4380 |
T4379 |
amod |
recessive,disease |
R299 |
T623 |
T620 |
pobj |
loci,at |
R2990 |
T4381 |
T4351 |
punct |
.,determined |
R2991 |
T4383 |
T4384 |
mark |
Because,functioned |
R2992 |
T4384 |
T4388 |
advcl |
functioned,call |
R2993 |
T4385 |
T4386 |
det |
these,alleles |
R2994 |
T4386 |
T4384 |
nsubj |
alleles,functioned |
R2995 |
T4387 |
T4386 |
compound |
Xpd,alleles |
R2996 |
T4389 |
T4384 |
prep |
at,functioned |
R2997 |
T4390 |
T4389 |
cc |
or,at |
R2998 |
T4391 |
T4389 |
conj |
near,at |
R2999 |
T4392 |
T4393 |
compound |
wt,levels |
R300 |
T624 |
T616 |
auxpass |
is,limited |
R3000 |
T4393 |
T4391 |
pobj |
levels,near |
R3001 |
T4394 |
T4384 |
prep |
with,functioned |
R3002 |
T4395 |
T4394 |
pobj |
respect,with |
R3003 |
T4396 |
T4395 |
prep |
to,respect |
R3004 |
T4397 |
T4398 |
det |
a,function |
R3005 |
T4398 |
T4396 |
pobj |
function,to |
R3006 |
T4399 |
T4398 |
amod |
particular,function |
R3007 |
T4400 |
T4388 |
punct |
", ",call |
R3008 |
T4401 |
T4388 |
nsubj |
we,call |
R3009 |
T4402 |
T4403 |
det |
these,effects |
R301 |
T625 |
T616 |
prep |
to,limited |
R3010 |
T4403 |
T4388 |
dobj |
effects,call |
R3011 |
T4404 |
T4388 |
punct |
“,call |
R3012 |
T4405 |
T4388 |
oprd |
dominant,call |
R3013 |
T4406 |
T4388 |
punct |
”,call |
R3014 |
T4407 |
T4388 |
punct |
.,call |
R3015 |
T4409 |
T4410 |
amod |
Such,alleles |
R3016 |
T4410 |
T4411 |
nsubjpass |
alleles,referred |
R3017 |
T4412 |
T4411 |
aux |
can,referred |
R3018 |
T4413 |
T4411 |
advmod |
also,referred |
R3019 |
T4414 |
T4411 |
auxpass |
be,referred |
R302 |
T626 |
T627 |
amod |
biochemical,studies |
R3020 |
T4415 |
T4411 |
prep |
to,referred |
R3021 |
T4416 |
T4411 |
prep |
as,referred |
R3022 |
T4417 |
T4418 |
punct |
“,alleles |
R3023 |
T4418 |
T4416 |
pobj |
alleles,as |
R3024 |
T4419 |
T4418 |
nmod |
separation,alleles |
R3025 |
T4420 |
T4419 |
prep |
of,separation |
R3026 |
T4421 |
T4420 |
pobj |
function,of |
R3027 |
T4422 |
T4418 |
punct |
”,alleles |
R3028 |
T4423 |
T4411 |
punct |
", ",referred |
R3029 |
T4424 |
T4425 |
mark |
because,allow |
R303 |
T627 |
T625 |
pobj |
studies,to |
R3030 |
T4425 |
T4411 |
advcl |
allow,referred |
R3031 |
T4426 |
T4425 |
nsubj |
they,allow |
R3032 |
T4427 |
T4425 |
dobj |
dissection,allow |
R3033 |
T4428 |
T4427 |
prep |
of,dissection |
R3034 |
T4429 |
T4430 |
det |
the,roles |
R3035 |
T4430 |
T4428 |
pobj |
roles,of |
R3036 |
T4431 |
T4430 |
prep |
of,roles |
R3037 |
T4432 |
T4433 |
amod |
multifunctional,proteins |
R3038 |
T4433 |
T4431 |
pobj |
proteins,of |
R3039 |
T4434 |
T4425 |
prep |
in,allow |
R304 |
T628 |
T626 |
cc |
and,biochemical |
R3040 |
T4435 |
T4436 |
amod |
specific,phenotypes |
R3041 |
T4436 |
T4434 |
pobj |
phenotypes,in |
R3042 |
T4437 |
T4411 |
punct |
.,referred |
R3043 |
T4439 |
T4440 |
advmod |
Secondly,was |
R3044 |
T4441 |
T4440 |
punct |
", ",was |
R3045 |
T4442 |
T4440 |
dep |
highlighting,was |
R3046 |
T4443 |
T4444 |
det |
the,relevance |
R3047 |
T4444 |
T4442 |
dobj |
relevance,highlighting |
R3048 |
T4445 |
T4444 |
amod |
potential,relevance |
R3049 |
T4446 |
T4444 |
prep |
of,relevance |
R305 |
T629 |
T630 |
npadvmod |
cell,based |
R3050 |
T4447 |
T4448 |
amod |
current,findings |
R3051 |
T4448 |
T4446 |
pobj |
findings,of |
R3052 |
T4449 |
T4444 |
prep |
to,relevance |
R3053 |
T4450 |
T4451 |
det |
all,organisms |
R3054 |
T4451 |
T4449 |
pobj |
organisms,to |
R3055 |
T4452 |
T4451 |
amod |
diploid,organisms |
R3056 |
T4453 |
T4451 |
prep |
including,organisms |
R3057 |
T4454 |
T4453 |
pobj |
humans,including |
R3058 |
T4455 |
T4456 |
det |
the,observation |
R3059 |
T4456 |
T4440 |
nsubj |
observation,was |
R306 |
T630 |
T626 |
conj |
based,biochemical |
R3060 |
T4457 |
T4458 |
mark |
that,shift |
R3061 |
T4458 |
T4456 |
acl |
shift,observation |
R3062 |
T4459 |
T4458 |
prep |
in,shift |
R3063 |
T4460 |
T4461 |
nummod |
one,animal |
R3064 |
T4461 |
T4459 |
pobj |
animal,in |
R3065 |
T4462 |
T4461 |
nmod |
compound,animal |
R3066 |
T4463 |
T4461 |
amod |
heterozygous,animal |
R3067 |
T4464 |
T4458 |
punct |
", ",shift |
R3068 |
T4465 |
T4466 |
det |
the,relationship |
R3069 |
T4466 |
T4458 |
nsubj |
relationship,shift |
R307 |
T631 |
T630 |
punct |
-,based |
R3070 |
T4467 |
T4466 |
nmod |
Xpd,relationship |
R3071 |
T4468 |
T4466 |
amod |
allelic,relationship |
R3072 |
T4469 |
T4458 |
aux |
could,shift |
R3073 |
T4470 |
T4458 |
prep |
from,shift |
R3074 |
T4471 |
T4472 |
amod |
A dominant,a recessive |
R3075 |
T4472 |
T4470 |
pobj |
a recessive,from |
R3076 |
T4473 |
T4472 |
punct |
|,a recessive |
R3077 |
T4474 |
T4470 |
prep |
to,from |
R3078 |
T4475 |
T4476 |
amod |
A recessive,a dominant |
R3079 |
T4476 |
T4474 |
pobj |
a dominant,to |
R308 |
T632 |
T627 |
prep |
of,studies |
R3080 |
T4477 |
T4476 |
punct |
|,a dominant |
R3081 |
T4478 |
T4458 |
prep |
with,shift |
R3082 |
T4479 |
T4478 |
pobj |
respect,with |
R3083 |
T4480 |
T4479 |
prep |
to,respect |
R3084 |
T4481 |
T4482 |
amod |
different,phenotypes |
R3085 |
T4482 |
T4480 |
pobj |
phenotypes,to |
R3086 |
T4483 |
T4458 |
prep |
in,shift |
R3087 |
T4484 |
T4485 |
det |
a,manner |
R3088 |
T4485 |
T4483 |
pobj |
manner,in |
R3089 |
T4486 |
T4487 |
npadvmod |
time,dependent |
R309 |
T633 |
T634 |
det |
a,handful |
R3090 |
T4487 |
T4485 |
amod |
dependent,manner |
R3091 |
T4488 |
T4487 |
punct |
-,dependent |
R3092 |
T4489 |
T4487 |
cc |
and,dependent |
R3093 |
T4490 |
T4491 |
npadvmod |
tissue,specific |
R3094 |
T4491 |
T4487 |
conj |
specific,dependent |
R3095 |
T4492 |
T4491 |
punct |
-,specific |
R3096 |
T4493 |
T4494 |
punct |
(,see |
R3097 |
T4494 |
T4458 |
parataxis |
see,shift |
R3098 |
T4495 |
T4496 |
advmod |
below,Table |
R3099 |
T4496 |
T4494 |
dobj |
Table,see |
R310 |
T634 |
T632 |
pobj |
handful,of |
R3100 |
T4497 |
T4496 |
cc |
and,Table |
R3101 |
T4498 |
T4496 |
nummod |
2,Table |
R3102 |
T4499 |
T4494 |
punct |
),see |
R3103 |
T4500 |
T4440 |
punct |
.,was |
R3104 |
T4502 |
T4503 |
prep |
In,produced |
R3105 |
T4504 |
T4505 |
det |
the,type |
R3106 |
T4505 |
T4502 |
pobj |
type,In |
R3107 |
T4506 |
T4505 |
amod |
third,type |
R3108 |
T4507 |
T4505 |
prep |
of,type |
R3109 |
T4508 |
T4509 |
amod |
biallelic,effect |
R311 |
T635 |
T634 |
prep |
of,handful |
R3110 |
T4509 |
T4507 |
pobj |
effect,of |
R3111 |
T4510 |
T4505 |
punct |
", ",type |
R3112 |
T4511 |
T4505 |
acl |
known,type |
R3113 |
T4512 |
T4511 |
prep |
as,known |
R3114 |
T4513 |
T4514 |
amod |
interallelic,complementation |
R3115 |
T4514 |
T4512 |
pobj |
complementation,as |
R3116 |
T4515 |
T4503 |
punct |
", ",produced |
R3117 |
T4516 |
T4517 |
nummod |
two,alleles |
R3118 |
T4517 |
T4503 |
nsubj |
alleles,produced |
R3119 |
T4518 |
T4517 |
amod |
mutant,alleles |
R312 |
T636 |
T637 |
amod |
metabolic,disorders |
R3120 |
T4519 |
T4520 |
det |
a,phenotype |
R3121 |
T4520 |
T4503 |
dobj |
phenotype,produced |
R3122 |
T4521 |
T4522 |
advmod |
closer,to |
R3123 |
T4522 |
T4520 |
amod |
to,phenotype |
R3124 |
T4523 |
T4522 |
pobj |
wt,to |
R3125 |
T4524 |
T4525 |
mark |
than,alone |
R3126 |
T4525 |
T4522 |
advcl |
alone,to |
R3127 |
T4526 |
T4525 |
nsubj |
either,alone |
R3128 |
T4527 |
T4525 |
aux |
could,alone |
R3129 |
T4528 |
T4525 |
prep |
in,alone |
R313 |
T637 |
T635 |
pobj |
disorders,of |
R3130 |
T4529 |
T4530 |
det |
a,state |
R3131 |
T4530 |
T4528 |
pobj |
state,in |
R3132 |
T4531 |
T4532 |
advmod |
homo,hemizygous |
R3133 |
T4532 |
T4530 |
amod |
hemizygous,state |
R3134 |
T4533 |
T4532 |
punct |
-,hemizygous |
R3135 |
T4534 |
T4532 |
cc |
or,hemizygous |
R3136 |
T4535 |
T4503 |
punct |
.,produced |
R3137 |
T4537 |
T4538 |
mark |
As,summarised |
R3138 |
T4538 |
T4539 |
advcl |
summarised,observed |
R3139 |
T4540 |
T4538 |
prep |
in,summarised |
R314 |
T638 |
T637 |
prep |
with,disorders |
R3140 |
T4541 |
T4540 |
pobj |
Table,in |
R3141 |
T4542 |
T4541 |
nummod |
2,Table |
R3142 |
T4543 |
T4539 |
punct |
", ",observed |
R3143 |
T4544 |
T4539 |
nsubjpass |
examples,observed |
R3144 |
T4545 |
T4544 |
prep |
of,examples |
R3145 |
T4546 |
T4547 |
det |
all,types |
R3146 |
T4547 |
T4545 |
pobj |
types,of |
R3147 |
T4548 |
T4547 |
prep |
of,types |
R3148 |
T4549 |
T4550 |
amod |
biallelic,effects |
R3149 |
T4550 |
T4548 |
pobj |
effects,of |
R315 |
T639 |
T638 |
pobj |
defects,with |
R3150 |
T4551 |
T4539 |
auxpass |
were,observed |
R3151 |
T4552 |
T4539 |
prep |
in,observed |
R3152 |
T4553 |
T4554 |
det |
a,variety |
R3153 |
T4554 |
T4552 |
pobj |
variety,in |
R3154 |
T4555 |
T4554 |
prep |
of,variety |
R3155 |
T4556 |
T4557 |
npadvmod |
Xpd,associated |
R3156 |
T4557 |
T4559 |
amod |
associated,phenotypes |
R3157 |
T4558 |
T4557 |
punct |
-,associated |
R3158 |
T4559 |
T4555 |
pobj |
phenotypes,of |
R3159 |
T4560 |
T4554 |
punct |
", ",variety |
R316 |
T640 |
T639 |
prep |
in,defects |
R3160 |
T4561 |
T4554 |
acl |
ranging,variety |
R3161 |
T4562 |
T4561 |
prep |
from,ranging |
R3162 |
T4563 |
T4564 |
amod |
brittle,hair |
R3163 |
T4564 |
T4562 |
pobj |
hair,from |
R3164 |
T4565 |
T4562 |
prep |
to,from |
R3165 |
T4566 |
T4567 |
amod |
segmental,progeria |
R3166 |
T4567 |
T4565 |
pobj |
progeria,to |
R3167 |
T4568 |
T4539 |
punct |
.,observed |
R317 |
T641 |
T640 |
pobj |
enzymes,in |
R318 |
T642 |
T641 |
prep |
including,enzymes |
R3180 |
T4806 |
T4805 |
prep |
in,TFIIH |
R3181 |
T4807 |
T4806 |
pobj |
Transcription,in |
R3182 |
T4808 |
T4807 |
cc |
and,Transcription |
R3183 |
T4809 |
T4807 |
conj |
Repair,Transcription |
R3184 |
T4810 |
T4805 |
punct |
: ,TFIIH |
R3185 |
T4811 |
T4805 |
appos |
Mechanisms,TFIIH |
R3186 |
T4812 |
T4811 |
prep |
of,Mechanisms |
R3187 |
T4813 |
T4814 |
compound |
XPD,Pleiotropy |
R3188 |
T4814 |
T4812 |
pobj |
Pleiotropy,of |
R3189 |
T4815 |
T4814 |
compound |
Disease,Pleiotropy |
R319 |
T643 |
T644 |
compound |
propinyl,CoA |
R3190 |
T4817 |
T4818 |
nsubj |
We,observed |
R3191 |
T4819 |
T4818 |
dobj |
differences,observed |
R3192 |
T4820 |
T4819 |
prep |
in,differences |
R3193 |
T4821 |
T4822 |
det |
the,ability |
R3194 |
T4822 |
T4820 |
pobj |
ability,in |
R3195 |
T4823 |
T4822 |
prep |
of,ability |
R3196 |
T4824 |
T4823 |
pobj |
XpdTTD,of |
R3197 |
T4825 |
T4824 |
cc |
versus,XpdTTD |
R3198 |
T4826 |
T4827 |
amod |
homozygous,alleles |
R3199 |
T4827 |
T4824 |
conj |
alleles,XpdTTD |
R320 |
T644 |
T646 |
compound |
CoA,carboxylase |
R3200 |
T4828 |
T4827 |
amod |
lethal,alleles |
R3201 |
T4829 |
T4827 |
nmod |
Xpd†XPCS,alleles |
R3202 |
T4830 |
T4829 |
cc |
and,Xpd†XPCS |
R3203 |
T4831 |
T4829 |
conj |
Xpd†XP,Xpd†XPCS |
R3204 |
T4832 |
T4833 |
aux |
to,function |
R3205 |
T4833 |
T4822 |
acl |
function,ability |
R3206 |
T4834 |
T4833 |
prep |
in,function |
R3207 |
T4835 |
T4836 |
nummod |
two,phenotypes |
R3208 |
T4836 |
T4834 |
pobj |
phenotypes,in |
R3209 |
T4837 |
T4838 |
npadvmod |
transcription,related |
R321 |
T645 |
T644 |
punct |
-,CoA |
R3210 |
T4838 |
T4836 |
amod |
related,phenotypes |
R3211 |
T4839 |
T4838 |
punct |
-,related |
R3212 |
T4840 |
T4836 |
acl |
separated,phenotypes |
R3213 |
T4841 |
T4840 |
prep |
in,separated |
R3214 |
T4842 |
T4843 |
det |
the,organism |
R3215 |
T4843 |
T4841 |
pobj |
organism,in |
R3216 |
T4844 |
T4840 |
prep |
by,separated |
R3217 |
T4845 |
T4846 |
preconj |
both,time |
R3218 |
T4846 |
T4844 |
pobj |
time,by |
R3219 |
T4847 |
T4846 |
cc |
and,time |
R322 |
T646 |
T642 |
pobj |
carboxylase,including |
R3220 |
T4848 |
T4846 |
conj |
space,time |
R3221 |
T4849 |
T4819 |
punct |
: ,differences |
R3222 |
T4850 |
T4851 |
amod |
embryonic,lethality |
R3223 |
T4851 |
T4819 |
appos |
lethality,differences |
R3224 |
T4852 |
T4851 |
cc |
and,lethality |
R3225 |
T4853 |
T4854 |
amod |
terminal,differentiation |
R3226 |
T4854 |
T4851 |
conj |
differentiation,lethality |
R3227 |
T4855 |
T4854 |
prep |
of,differentiation |
R3228 |
T4856 |
T4857 |
amod |
enucleating,skin |
R3229 |
T4857 |
T4855 |
pobj |
skin,of |
R323 |
T647 |
T648 |
punct |
[,2 |
R3230 |
T4858 |
T4857 |
cc |
and,skin |
R3231 |
T4859 |
T4860 |
compound |
blood,cells |
R3232 |
T4860 |
T4857 |
conj |
cells,skin |
R3233 |
T4861 |
T4818 |
punct |
.,observed |
R3234 |
T4863 |
T4864 |
det |
The,lethality |
R3235 |
T4864 |
T4869 |
nsubj |
lethality,reflects |
R3236 |
T4865 |
T4866 |
nmod |
preblastocyst,stage |
R3237 |
T4866 |
T4864 |
nmod |
stage,lethality |
R3238 |
T4867 |
T4866 |
punct |
-,stage |
R3239 |
T4868 |
T4864 |
amod |
homozygous,lethality |
R324 |
T648 |
T646 |
parataxis |
2,carboxylase |
R3240 |
T4870 |
T4864 |
acl |
shared,lethality |
R3241 |
T4871 |
T4870 |
agent |
by,shared |
R3242 |
T4872 |
T4873 |
det |
the,alleles |
R3243 |
T4873 |
T4871 |
pobj |
alleles,by |
R3244 |
T4874 |
T4873 |
nmod |
XpdKO,alleles |
R3245 |
T4875 |
T4874 |
punct |
", ",XpdKO |
R3246 |
T4876 |
T4874 |
conj |
Xpd†XPCS,XpdKO |
R3247 |
T4877 |
T4876 |
punct |
", ",Xpd†XPCS |
R3248 |
T4878 |
T4876 |
cc |
and,Xpd†XPCS |
R3249 |
T4879 |
T4876 |
conj |
Xpd†XP,Xpd†XPCS |
R325 |
T649 |
T648 |
punct |
],2 |
R3250 |
T4880 |
T4881 |
advmod |
most,likely |
R3251 |
T4881 |
T4869 |
advmod |
likely,reflects |
R3252 |
T4882 |
T4883 |
det |
a,defect |
R3253 |
T4883 |
T4869 |
dobj |
defect,reflects |
R3254 |
T4884 |
T4883 |
prep |
in,defect |
R3255 |
T4885 |
T4886 |
amod |
basal,transcription |
R3256 |
T4886 |
T4884 |
pobj |
transcription,in |
R3257 |
T4887 |
T4888 |
dep |
that,is |
R3258 |
T4888 |
T4883 |
relcl |
is,defect |
R3259 |
T4889 |
T4888 |
acomp |
incompatible,is |
R326 |
T650 |
T646 |
punct |
", ",carboxylase |
R3260 |
T4890 |
T4889 |
prep |
with,incompatible |
R3261 |
T4891 |
T4890 |
pobj |
life,with |
R3262 |
T4892 |
T4869 |
punct |
.,reflects |
R3263 |
T4894 |
T4895 |
prep |
In,rescued |
R3264 |
T4896 |
T4897 |
nmod |
XpdTTD, †XPCS |
R3265 |
T4897 |
T4899 |
nmod |
†XPCS,mice |
R3266 |
T4898 |
T4897 |
punct |
/, †XPCS |
R3267 |
T4899 |
T4894 |
pobj |
mice,In |
R3268 |
T4900 |
T4897 |
cc |
and, †XPCS |
R3269 |
T4901 |
T4902 |
compound |
XpdTTD, †XP |
R327 |
T651 |
T652 |
compound |
argininosuccinate,lyase |
R3270 |
T4902 |
T4897 |
conj |
†XP, †XPCS |
R3271 |
T4903 |
T4902 |
punct |
/, †XP |
R3272 |
T4904 |
T4899 |
nmod |
compound,mice |
R3273 |
T4905 |
T4899 |
amod |
heterozygous,mice |
R3274 |
T4906 |
T4895 |
punct |
", ",rescued |
R3275 |
T4907 |
T4908 |
amod |
embryonic,lethality |
R3276 |
T4908 |
T4895 |
nsubjpass |
lethality,rescued |
R3277 |
T4909 |
T4895 |
auxpass |
was,rescued |
R3278 |
T4910 |
T4895 |
advmod |
fully,rescued |
R3279 |
T4911 |
T4895 |
agent |
by,rescued |
R328 |
T652 |
T646 |
conj |
lyase,carboxylase |
R3280 |
T4912 |
T4913 |
det |
the,allele |
R3281 |
T4913 |
T4911 |
pobj |
allele,by |
R3282 |
T4914 |
T4913 |
compound |
XpdTTD,allele |
R3283 |
T4915 |
T4895 |
punct |
.,rescued |
R3284 |
T4917 |
T4918 |
mark |
Because,rescued |
R3285 |
T4918 |
T4924 |
advcl |
rescued,considered |
R3286 |
T4919 |
T4920 |
amod |
embryonic,lethality |
R3287 |
T4920 |
T4918 |
nsubjpass |
lethality,rescued |
R3288 |
T4921 |
T4918 |
auxpass |
was,rescued |
R3289 |
T4922 |
T4918 |
advmod |
also,rescued |
R329 |
T653 |
T654 |
punct |
[,3 |
R3290 |
T4923 |
T4918 |
advmod |
fully,rescued |
R3291 |
T4925 |
T4918 |
prep |
in,rescued |
R3292 |
T4926 |
T4927 |
nmod |
XpdTTD,KO |
R3293 |
T4927 |
T4929 |
nmod |
KO,mice |
R3294 |
T4928 |
T4927 |
punct |
/,KO |
R3295 |
T4929 |
T4925 |
pobj |
mice,in |
R3296 |
T4930 |
T4929 |
amod |
hemizygous,mice |
R3297 |
T4931 |
T4924 |
punct |
", ",considered |
R3298 |
T4932 |
T4933 |
det |
the,allele |
R3299 |
T4933 |
T4924 |
nsubjpass |
allele,considered |
R330 |
T654 |
T652 |
parataxis |
3,lyase |
R3300 |
T4934 |
T4933 |
compound |
XpdTTD,allele |
R3301 |
T4935 |
T4924 |
aux |
can,considered |
R3302 |
T4936 |
T4924 |
auxpass |
be,considered |
R3303 |
T4937 |
T4924 |
prep |
as,considered |
R3304 |
T4938 |
T4937 |
pobj |
wt,as |
R3305 |
T4939 |
T4938 |
cc |
and,wt |
R3306 |
T4940 |
T4941 |
advmod |
thus,dominant |
R3307 |
T4941 |
T4938 |
conj |
dominant,wt |
R3308 |
T4942 |
T4941 |
prep |
to,dominant |
R3309 |
T4943 |
T4942 |
pobj |
each,to |
R331 |
T655 |
T654 |
punct |
],3 |
R3310 |
T4944 |
T4943 |
prep |
of,each |
R3311 |
T4945 |
T4946 |
det |
the,alleles |
R3312 |
T4946 |
T4944 |
pobj |
alleles,of |
R3313 |
T4947 |
T4946 |
amod |
homozygous,alleles |
R3314 |
T4948 |
T4946 |
amod |
lethal,alleles |
R3315 |
T4949 |
T4950 |
punct |
(,XpdKO |
R3316 |
T4950 |
T4946 |
parataxis |
XpdKO,alleles |
R3317 |
T4951 |
T4950 |
punct |
", ",XpdKO |
R3318 |
T4952 |
T4950 |
conj |
Xpd†XPCS,XpdKO |
R3319 |
T4953 |
T4952 |
punct |
", ",Xpd†XPCS |
R332 |
T656 |
T652 |
punct |
", ",lyase |
R3320 |
T4954 |
T4952 |
cc |
and,Xpd†XPCS |
R3321 |
T4955 |
T4952 |
conj |
Xpd†XP,Xpd†XPCS |
R3322 |
T4956 |
T4950 |
punct |
),XpdKO |
R3323 |
T4957 |
T4941 |
prep |
with,dominant |
R3324 |
T4958 |
T4957 |
pobj |
respect,with |
R3325 |
T4959 |
T4958 |
prep |
to,respect |
R3326 |
T4960 |
T4961 |
det |
this,phenotype |
R3327 |
T4961 |
T4959 |
pobj |
phenotype,to |
R3328 |
T4962 |
T4961 |
amod |
particular,phenotype |
R3329 |
T4963 |
T4964 |
punct |
(,Table |
R333 |
T657 |
T658 |
nmod |
galactose,phosphate |
R3330 |
T4964 |
T4924 |
parataxis |
Table,considered |
R3331 |
T4965 |
T4964 |
nummod |
2,Table |
R3332 |
T4966 |
T4964 |
punct |
),Table |
R3333 |
T4967 |
T4924 |
punct |
.,considered |
R3334 |
T4969 |
T4970 |
npadvmod |
TTD,specific |
R3335 |
T4970 |
T4972 |
amod |
specific,features |
R3336 |
T4971 |
T4970 |
punct |
-,specific |
R3337 |
T4972 |
T4976 |
nsubjpass |
features,thought |
R3338 |
T4973 |
T4972 |
amod |
cutaneous,features |
R3339 |
T4974 |
T4973 |
cc |
and,cutaneous |
R334 |
T658 |
T662 |
compound |
phosphate,uridylyltransferase |
R3340 |
T4975 |
T4973 |
conj |
anaemic,cutaneous |
R3341 |
T4977 |
T4976 |
punct |
", ",thought |
R3342 |
T4978 |
T4976 |
prep |
on,thought |
R3343 |
T4979 |
T4980 |
det |
the,hand |
R3344 |
T4980 |
T4978 |
pobj |
hand,on |
R3345 |
T4981 |
T4980 |
amod |
other,hand |
R3346 |
T4982 |
T4976 |
punct |
", ",thought |
R3347 |
T4983 |
T4976 |
auxpass |
are,thought |
R3348 |
T4984 |
T4985 |
aux |
to,result |
R3349 |
T4985 |
T4976 |
xcomp |
result,thought |
R335 |
T659 |
T658 |
punct |
-,phosphate |
R3350 |
T4986 |
T4985 |
prep |
from,result |
R3351 |
T4987 |
T4988 |
det |
a,kind |
R3352 |
T4988 |
T4986 |
pobj |
kind,from |
R3353 |
T4989 |
T4988 |
amod |
specific,kind |
R3354 |
T4990 |
T4988 |
prep |
of,kind |
R3355 |
T4991 |
T4992 |
amod |
transcriptional,insufficiency |
R3356 |
T4992 |
T4990 |
pobj |
insufficiency,of |
R3357 |
T4993 |
T4988 |
acl |
caused,kind |
R3358 |
T4994 |
T4993 |
agent |
by,caused |
R3359 |
T4995 |
T4994 |
pobj |
depletion,by |
R336 |
T660 |
T658 |
nummod |
1,phosphate |
R3360 |
T4996 |
T4995 |
prep |
of,depletion |
R3361 |
T4997 |
T4998 |
amod |
unstable,TFIIH |
R3362 |
T4998 |
T4996 |
pobj |
TFIIH,of |
R3363 |
T4999 |
T4995 |
prep |
during,depletion |
R3364 |
T5000 |
T5001 |
det |
the,differentiation |
R3365 |
T5001 |
T4999 |
pobj |
differentiation,during |
R3366 |
T5002 |
T5001 |
amod |
terminal,differentiation |
R3367 |
T5003 |
T5001 |
prep |
of,differentiation |
R3368 |
T5004 |
T5005 |
nmod |
skin,cells |
R3369 |
T5005 |
T5003 |
pobj |
cells,of |
R337 |
T661 |
T658 |
punct |
-,phosphate |
R3370 |
T5006 |
T5004 |
punct |
", ",skin |
R3371 |
T5007 |
T5008 |
compound |
hair,shaft |
R3372 |
T5008 |
T5004 |
conj |
shaft,skin |
R3373 |
T5009 |
T5008 |
punct |
-,shaft |
R3374 |
T5010 |
T5008 |
punct |
", ",shaft |
R3375 |
T5011 |
T5008 |
cc |
and,shaft |
R3376 |
T5012 |
T5008 |
conj |
blood,shaft |
R3377 |
T5013 |
T5014 |
punct |
[,24 |
R3378 |
T5014 |
T4976 |
parataxis |
24,thought |
R3379 |
T5015 |
T5014 |
nummod |
16,24 |
R338 |
T662 |
T652 |
conj |
uridylyltransferase,lyase |
R3380 |
T5016 |
T5014 |
punct |
",",24 |
R3381 |
T5017 |
T5014 |
punct |
],24 |
R3382 |
T5018 |
T4976 |
punct |
.,thought |
R3383 |
T5020 |
T5021 |
prep |
In,were |
R3384 |
T5022 |
T5023 |
nmod |
compound,mice |
R3385 |
T5023 |
T5020 |
pobj |
mice,In |
R3386 |
T5024 |
T5023 |
amod |
heterozygous,mice |
R3387 |
T5025 |
T5021 |
punct |
", ",were |
R3388 |
T5026 |
T5027 |
det |
both,alleles |
R3389 |
T5027 |
T5021 |
nsubj |
alleles,were |
R339 |
T663 |
T664 |
punct |
[,4 |
R3390 |
T5028 |
T5027 |
amod |
homozygous,alleles |
R3391 |
T5029 |
T5027 |
amod |
lethal,alleles |
R3392 |
T5030 |
T5027 |
nmod |
Xpd†XPCS,alleles |
R3393 |
T5031 |
T5030 |
cc |
and,Xpd†XPCS |
R3394 |
T5032 |
T5030 |
conj |
Xpd†XP,Xpd†XPCS |
R3395 |
T5033 |
T5021 |
acomp |
able,were |
R3396 |
T5034 |
T5035 |
aux |
to,alleviate |
R3397 |
T5035 |
T5033 |
xcomp |
alleviate,able |
R3398 |
T5036 |
T5037 |
npadvmod |
XpdTTD,specific |
R3399 |
T5037 |
T5039 |
amod |
specific,features |
R340 |
T664 |
T662 |
parataxis |
4,uridylyltransferase |
R3400 |
T5038 |
T5037 |
punct |
-,specific |
R3401 |
T5039 |
T5035 |
dobj |
features,alleviate |
R3402 |
T5040 |
T5039 |
amod |
cutaneous,features |
R3403 |
T5041 |
T5040 |
cc |
and,cutaneous |
R3404 |
T5042 |
T5040 |
conj |
anaemic,cutaneous |
R3405 |
T5043 |
T5021 |
cc |
and,were |
R3406 |
T5044 |
T5045 |
aux |
can,defined |
R3407 |
T5045 |
T5021 |
conj |
defined,were |
R3408 |
T5046 |
T5045 |
advmod |
thus,defined |
R3409 |
T5047 |
T5045 |
auxpass |
be,defined |
R341 |
T665 |
T664 |
punct |
],4 |
R3410 |
T5048 |
T5045 |
prep |
as,defined |
R3411 |
T5049 |
T5048 |
amod |
dominant,as |
R3412 |
T5050 |
T5045 |
prep |
over,defined |
R3413 |
T5051 |
T5052 |
det |
the,allele |
R3414 |
T5052 |
T5050 |
pobj |
allele,over |
R3415 |
T5053 |
T5052 |
compound |
XpdTTD,allele |
R3416 |
T5054 |
T5045 |
prep |
with,defined |
R3417 |
T5055 |
T5054 |
pobj |
respect,with |
R3418 |
T5056 |
T5055 |
prep |
to,respect |
R3419 |
T5057 |
T5058 |
det |
these,phenotypes |
R342 |
T666 |
T662 |
punct |
", ",uridylyltransferase |
R3420 |
T5058 |
T5056 |
pobj |
phenotypes,to |
R3421 |
T5059 |
T5021 |
punct |
.,were |
R3422 |
T5061 |
T5062 |
nsubj |
We,conclude |
R3423 |
T5063 |
T5064 |
mark |
that,represent |
R3424 |
T5064 |
T5062 |
ccomp |
represent,conclude |
R3425 |
T5065 |
T5066 |
det |
the,defects |
R3426 |
T5066 |
T5064 |
nsubj |
defects,represent |
R3427 |
T5067 |
T5066 |
acl |
leading,defects |
R3428 |
T5068 |
T5067 |
prep |
to,leading |
R3429 |
T5069 |
T5070 |
amod |
embryonic,lethality |
R343 |
T667 |
T662 |
cc |
and,uridylyltransferase |
R3430 |
T5070 |
T5068 |
pobj |
lethality,to |
R3431 |
T5071 |
T5070 |
cc |
and,lethality |
R3432 |
T5072 |
T5073 |
amod |
aberrant,differentiation |
R3433 |
T5073 |
T5070 |
conj |
differentiation,lethality |
R3434 |
T5074 |
T5073 |
amod |
terminal,differentiation |
R3435 |
T5075 |
T5073 |
prep |
of,differentiation |
R3436 |
T5076 |
T5077 |
det |
the,skin |
R3437 |
T5077 |
T5075 |
pobj |
skin,of |
R3438 |
T5078 |
T5077 |
punct |
", ",skin |
R3439 |
T5079 |
T5077 |
conj |
hair,skin |
R344 |
T668 |
T669 |
compound |
methylmalonyl,mutase |
R3440 |
T5080 |
T5079 |
punct |
", ",hair |
R3441 |
T5081 |
T5079 |
cc |
and,hair |
R3442 |
T5082 |
T5079 |
conj |
blood,hair |
R3443 |
T5083 |
T5084 |
nummod |
two,deficiencies |
R3444 |
T5084 |
T5064 |
dobj |
deficiencies,represent |
R3445 |
T5085 |
T5086 |
advmod |
qualitatively,different |
R3446 |
T5086 |
T5084 |
amod |
different,deficiencies |
R3447 |
T5087 |
T5085 |
cc |
and,qualitatively |
R3448 |
T5088 |
T5087 |
punct |
/,and |
R3449 |
T5089 |
T5087 |
cc |
or,and |
R345 |
T669 |
T662 |
conj |
mutase,uridylyltransferase |
R3450 |
T5090 |
T5085 |
conj |
quantitatively,qualitatively |
R3451 |
T5091 |
T5084 |
amod |
transcriptional,deficiencies |
R3452 |
T5092 |
T5062 |
punct |
.,conclude |
R3453 |
T5094 |
T5095 |
prep |
During,is |
R3454 |
T5096 |
T5097 |
amod |
early,development |
R3455 |
T5097 |
T5094 |
pobj |
development,During |
R3456 |
T5098 |
T5097 |
amod |
embryonic,development |
R3457 |
T5099 |
T5095 |
punct |
", ",is |
R3458 |
T5100 |
T5095 |
nsubj |
XpdTTD,is |
R3459 |
T5101 |
T5095 |
acomp |
dominant,is |
R346 |
T670 |
T669 |
compound |
CoA,mutase |
R3460 |
T5102 |
T5101 |
prep |
over,dominant |
R3461 |
T5103 |
T5104 |
det |
the,alleles |
R3462 |
T5104 |
T5102 |
pobj |
alleles,over |
R3463 |
T5105 |
T5104 |
nmod |
Xpd†XPCS,alleles |
R3464 |
T5106 |
T5105 |
cc |
and,Xpd†XPCS |
R3465 |
T5107 |
T5105 |
conj |
Xpd†XP,Xpd†XPCS |
R3466 |
T5108 |
T5095 |
punct |
", ",is |
R3467 |
T5109 |
T5110 |
mark |
whereas,reversed |
R3468 |
T5110 |
T5095 |
advcl |
reversed,is |
R3469 |
T5111 |
T5110 |
advmod |
later,reversed |
R347 |
T671 |
T672 |
punct |
[,5 |
R3470 |
T5112 |
T5111 |
prep |
in,later |
R3471 |
T5113 |
T5114 |
det |
the,ontogenesis |
R3472 |
T5114 |
T5112 |
pobj |
ontogenesis,in |
R3473 |
T5115 |
T5114 |
prep |
of,ontogenesis |
R3474 |
T5116 |
T5115 |
pobj |
skin,of |
R3475 |
T5117 |
T5116 |
punct |
", ",skin |
R3476 |
T5118 |
T5119 |
compound |
hair,shaft |
R3477 |
T5119 |
T5116 |
conj |
shaft,skin |
R3478 |
T5120 |
T5119 |
punct |
-,shaft |
R3479 |
T5121 |
T5119 |
punct |
", ",shaft |
R348 |
T672 |
T669 |
parataxis |
5,mutase |
R3480 |
T5122 |
T5119 |
cc |
and,shaft |
R3481 |
T5123 |
T5124 |
compound |
blood,cells |
R3482 |
T5124 |
T5119 |
conj |
cells,shaft |
R3483 |
T5125 |
T5110 |
punct |
", ",reversed |
R3484 |
T5126 |
T5127 |
det |
the,situation |
R3485 |
T5127 |
T5110 |
nsubjpass |
situation,reversed |
R3486 |
T5128 |
T5110 |
auxpass |
is,reversed |
R3487 |
T5129 |
T5095 |
punct |
.,is |
R3488 |
T5131 |
T5132 |
prep |
In,imparted |
R3489 |
T5133 |
T5134 |
poss |
its,role |
R349 |
T673 |
T672 |
punct |
],5 |
R3490 |
T5134 |
T5131 |
pobj |
role,In |
R3491 |
T5135 |
T5134 |
prep |
in,role |
R3492 |
T5136 |
T5137 |
det |
the,repair |
R3493 |
T5137 |
T5135 |
pobj |
repair,in |
R3494 |
T5138 |
T5137 |
prep |
of,repair |
R3495 |
T5139 |
T5140 |
compound |
UV,photolesions |
R3496 |
T5140 |
T5138 |
pobj |
photolesions,of |
R3497 |
T5141 |
T5132 |
punct |
", ",imparted |
R3498 |
T5142 |
T5143 |
det |
the,allele |
R3499 |
T5143 |
T5132 |
nsubj |
allele,imparted |
R350 |
T674 |
T616 |
punct |
.,limited |
R3500 |
T5144 |
T5143 |
compound |
Xpd†XPCS,allele |
R3501 |
T5145 |
T5146 |
det |
a,benefit |
R3502 |
T5146 |
T5132 |
dobj |
benefit,imparted |
R3503 |
T5147 |
T5146 |
amod |
clear,benefit |
R3504 |
T5148 |
T5146 |
compound |
UV,benefit |
R3505 |
T5149 |
T5146 |
compound |
survival,benefit |
R3506 |
T5150 |
T5146 |
prep |
over,benefit |
R3507 |
T5151 |
T5152 |
det |
a,allele |
R3508 |
T5152 |
T5150 |
pobj |
allele,over |
R3509 |
T5153 |
T5152 |
amod |
single,allele |
R351 |
T676 |
T677 |
amod |
Compound,heterozygotes |
R3510 |
T5154 |
T5152 |
compound |
XpdTTD,allele |
R3511 |
T5155 |
T5152 |
cc |
or,allele |
R3512 |
T5156 |
T5157 |
nummod |
two,alleles |
R3513 |
T5157 |
T5152 |
conj |
alleles,allele |
R3514 |
T5158 |
T5157 |
compound |
XpdXPCS,alleles |
R3515 |
T5159 |
T5146 |
amod |
independent,benefit |
R3516 |
T5160 |
T5159 |
prep |
of,independent |
R3517 |
T5161 |
T5162 |
compound |
expression,levels |
R3518 |
T5162 |
T5160 |
pobj |
levels,of |
R3519 |
T5163 |
T5132 |
punct |
", ",imparted |
R352 |
T677 |
T678 |
nsubj |
heterozygotes,are |
R3520 |
T5164 |
T5165 |
dep |
which,is |
R3521 |
T5165 |
T5132 |
advcl |
is,imparted |
R3522 |
T5166 |
T5165 |
acomp |
consistent,is |
R3523 |
T5167 |
T5166 |
prep |
with,consistent |
R3524 |
T5168 |
T5169 |
amod |
interallelic,complementation |
R3525 |
T5169 |
T5167 |
pobj |
complementation,with |
R3526 |
T5170 |
T5132 |
punct |
.,imparted |
R3527 |
T5172 |
T5173 |
advmod |
However,argues |
R3528 |
T5174 |
T5173 |
punct |
", ",argues |
R3529 |
T5175 |
T5176 |
det |
the,observation |
R353 |
T679 |
T678 |
attr |
individuals,are |
R3530 |
T5176 |
T5173 |
nsubj |
observation,argues |
R3531 |
T5177 |
T5178 |
mark |
that,improved |
R3532 |
T5178 |
T5176 |
acl |
improved,observation |
R3533 |
T5179 |
T5180 |
det |
no,parameters |
R3534 |
T5180 |
T5178 |
nsubjpass |
parameters,improved |
R3535 |
T5181 |
T5180 |
amod |
other,parameters |
R3536 |
T5182 |
T5180 |
amod |
cellular,parameters |
R3537 |
T5183 |
T5182 |
cc |
or,cellular |
R3538 |
T5184 |
T5182 |
conj |
biochemical,cellular |
R3539 |
T5185 |
T5186 |
npadvmod |
UV,related |
R354 |
T680 |
T679 |
acl |
carrying,individuals |
R3540 |
T5186 |
T5180 |
amod |
related,parameters |
R3541 |
T5187 |
T5186 |
punct |
-,related |
R3542 |
T5188 |
T5178 |
auxpass |
were,improved |
R3543 |
T5189 |
T5178 |
prep |
in,improved |
R3544 |
T5190 |
T5191 |
compound |
XpdTTD, †XPCS |
R3545 |
T5191 |
T5189 |
pobj |
†XPCS,in |
R3546 |
T5192 |
T5191 |
punct |
/, †XPCS |
R3547 |
T5193 |
T5173 |
prep |
against,argues |
R3548 |
T5194 |
T5193 |
pobj |
complementation,against |
R3549 |
T5195 |
T5194 |
prep |
of,complementation |
R355 |
T681 |
T682 |
nummod |
two,alleles |
R3550 |
T5196 |
T5197 |
det |
this,activity |
R3551 |
T5197 |
T5195 |
pobj |
activity,of |
R3552 |
T5198 |
T5197 |
compound |
repair,activity |
R3553 |
T5199 |
T5194 |
prep |
in,complementation |
R3554 |
T5200 |
T5201 |
det |
the,rescue |
R3555 |
T5201 |
T5199 |
pobj |
rescue,in |
R3556 |
T5202 |
T5201 |
prep |
of,rescue |
R3557 |
T5203 |
T5204 |
nmod |
TTD,symptoms |
R3558 |
T5204 |
T5202 |
pobj |
symptoms,of |
R3559 |
T5205 |
T5204 |
amod |
progeroid,symptoms |
R356 |
T682 |
T680 |
dobj |
alleles,carrying |
R3560 |
T5206 |
T5207 |
advmod |
in,vivo |
R3561 |
T5207 |
T5201 |
advmod |
vivo,rescue |
R3562 |
T5208 |
T5173 |
punct |
.,argues |
R3565 |
T5295 |
T5296 |
amod |
Interallelic,Complementation |
R3566 |
T5297 |
T5296 |
cc |
and,Complementation |
R3567 |
T5298 |
T5299 |
compound |
XPD,Function |
R3568 |
T5299 |
T5296 |
conj |
Function,Complementation |
R3569 |
T5301 |
T5302 |
dep |
What,tell |
R357 |
T683 |
T682 |
amod |
different,alleles |
R3570 |
T5303 |
T5302 |
aux |
does,tell |
R3571 |
T5304 |
T5305 |
amod |
interallelic,complementation |
R3572 |
T5305 |
T5302 |
nsubj |
complementation,tell |
R3573 |
T5306 |
T5302 |
dobj |
us,tell |
R3574 |
T5307 |
T5302 |
prep |
about,tell |
R3575 |
T5308 |
T5309 |
det |
the,mechanism |
R3576 |
T5309 |
T5307 |
pobj |
mechanism,about |
R3577 |
T5310 |
T5309 |
prep |
of,mechanism |
R3578 |
T5311 |
T5312 |
compound |
XPD,function |
R3579 |
T5312 |
T5310 |
pobj |
function,of |
R358 |
T684 |
T682 |
amod |
mutant,alleles |
R3580 |
T5313 |
T5302 |
punct |
?,tell |
R3581 |
T5315 |
T5316 |
amod |
Interallelic,complementation |
R3582 |
T5316 |
T5317 |
nsubjpass |
complementation,observed |
R3583 |
T5318 |
T5317 |
auxpass |
is,observed |
R3584 |
T5319 |
T5320 |
advmod |
most,often |
R3585 |
T5320 |
T5317 |
advmod |
often,observed |
R3586 |
T5321 |
T5317 |
prep |
in,observed |
R3587 |
T5322 |
T5323 |
amod |
multimeric,proteins |
R3588 |
T5323 |
T5321 |
pobj |
proteins,in |
R3589 |
T5324 |
T5323 |
prep |
with,proteins |
R359 |
T685 |
T682 |
prep |
of,alleles |
R3590 |
T5325 |
T5326 |
amod |
multiple,domains |
R3591 |
T5326 |
T5324 |
pobj |
domains,with |
R3592 |
T5327 |
T5326 |
amod |
functional,domains |
R3593 |
T5328 |
T5317 |
punct |
.,observed |
R3594 |
T5330 |
T5331 |
advmod |
Unfortunately,remains |
R3595 |
T5332 |
T5331 |
punct |
", ",remains |
R3596 |
T5333 |
T5334 |
det |
the,relationship |
R3597 |
T5334 |
T5331 |
nsubj |
relationship,remains |
R3598 |
T5335 |
T5336 |
compound |
structure,function |
R3599 |
T5336 |
T5334 |
compound |
function,relationship |
R360 |
T686 |
T687 |
det |
the,gene |
R3600 |
T5337 |
T5336 |
punct |
–,function |
R3601 |
T5338 |
T5334 |
prep |
between,relationship |
R3602 |
T5339 |
T5340 |
npadvmod |
disease,causing |
R3603 |
T5340 |
T5342 |
amod |
causing,mutations |
R3604 |
T5341 |
T5340 |
punct |
-,causing |
R3605 |
T5342 |
T5338 |
pobj |
mutations,between |
R3606 |
T5343 |
T5342 |
cc |
and,mutations |
R3607 |
T5344 |
T5345 |
nmod |
XPD,domains |
R3608 |
T5345 |
T5342 |
conj |
domains,mutations |
R3609 |
T5346 |
T5345 |
amod |
functional,domains |
R361 |
T687 |
T685 |
pobj |
gene,of |
R3610 |
T5347 |
T5334 |
punct |
", ",relationship |
R3611 |
T5348 |
T5334 |
prep |
including,relationship |
R3612 |
T5349 |
T5350 |
amod |
detailed,information |
R3613 |
T5350 |
T5348 |
pobj |
information,including |
R3614 |
T5351 |
T5350 |
amod |
structural,information |
R3615 |
T5352 |
T5350 |
prep |
on,information |
R3616 |
T5353 |
T5352 |
pobj |
XPD,on |
R3617 |
T5354 |
T5353 |
cc |
or,XPD |
R3618 |
T5355 |
T5356 |
advmod |
even,stoichiometry |
R3619 |
T5356 |
T5353 |
conj |
stoichiometry,XPD |
R362 |
T688 |
T687 |
amod |
same,gene |
R3620 |
T5357 |
T5356 |
poss |
its,stoichiometry |
R3621 |
T5358 |
T5350 |
prep |
within,information |
R3622 |
T5359 |
T5358 |
pobj |
TFIIH,within |
R3623 |
T5360 |
T5331 |
punct |
", ",remains |
R3624 |
T5361 |
T5331 |
acomp |
unknown,remains |
R3625 |
T5362 |
T5331 |
punct |
.,remains |
R3626 |
T5364 |
T5365 |
advmod |
However,is |
R3627 |
T5366 |
T5365 |
punct |
", ",is |
R3628 |
T5367 |
T5365 |
prep |
based,is |
R3629 |
T5368 |
T5367 |
prep |
on,based |
R363 |
T689 |
T678 |
punct |
.,are |
R3630 |
T5369 |
T5370 |
det |
the,ability |
R3631 |
T5370 |
T5368 |
pobj |
ability,on |
R3632 |
T5371 |
T5370 |
prep |
of,ability |
R3633 |
T5372 |
T5373 |
compound |
cell,extracts |
R3634 |
T5373 |
T5371 |
pobj |
extracts,of |
R3635 |
T5374 |
T5375 |
dep |
that,are |
R3636 |
T5375 |
T5373 |
relcl |
are,extracts |
R3637 |
T5376 |
T5375 |
acomp |
defective,are |
R3638 |
T5377 |
T5376 |
prep |
in,defective |
R3639 |
T5378 |
T5379 |
nummod |
two,components |
R364 |
T691 |
T692 |
prep |
In,result |
R3640 |
T5379 |
T5377 |
pobj |
components,in |
R3641 |
T5380 |
T5379 |
amod |
different,components |
R3642 |
T5381 |
T5379 |
compound |
TFIIH,components |
R3643 |
T5382 |
T5379 |
punct |
(,components |
R3644 |
T5383 |
T5379 |
appos |
XPD,components |
R3645 |
T5384 |
T5383 |
cc |
and,XPD |
R3646 |
T5385 |
T5383 |
conj |
XPB,XPD |
R3647 |
T5386 |
T5370 |
punct |
),ability |
R3648 |
T5387 |
T5388 |
aux |
to,complement |
R3649 |
T5388 |
T5370 |
acl |
complement,ability |
R365 |
T693 |
T694 |
det |
the,absence |
R3650 |
T5389 |
T5390 |
compound |
NER,activity |
R3651 |
T5390 |
T5388 |
dobj |
activity,complement |
R3652 |
T5391 |
T5392 |
advmod |
in,vitro |
R3653 |
T5392 |
T5388 |
advmod |
vitro,complement |
R3654 |
T5393 |
T5394 |
punct |
[,26 |
R3655 |
T5394 |
T5370 |
parataxis |
26,ability |
R3656 |
T5395 |
T5394 |
punct |
],26 |
R3657 |
T5396 |
T5365 |
punct |
", ",is |
R3658 |
T5397 |
T5365 |
nsubj |
it,is |
R3659 |
T5398 |
T5365 |
acomp |
likely,is |
R366 |
T694 |
T691 |
pobj |
absence,In |
R3660 |
T5399 |
T5400 |
mark |
that,multimerise |
R3661 |
T5400 |
T5365 |
ccomp |
multimerise,is |
R3662 |
T5401 |
T5400 |
nsubj |
TFIIH,multimerise |
R3663 |
T5402 |
T5401 |
punct |
(,TFIIH |
R3664 |
T5403 |
T5401 |
cc |
or,TFIIH |
R3665 |
T5404 |
T5405 |
poss |
its,components |
R3666 |
T5405 |
T5401 |
conj |
components,TFIIH |
R3667 |
T5406 |
T5400 |
punct |
),multimerise |
R3668 |
T5407 |
T5400 |
aux |
can,multimerise |
R3669 |
T5408 |
T5400 |
preconj |
either,multimerise |
R367 |
T695 |
T694 |
prep |
of,absence |
R3670 |
T5409 |
T5400 |
cc |
or,multimerise |
R3671 |
T5410 |
T5400 |
conj |
exchange,multimerise |
R3672 |
T5411 |
T5412 |
advmod |
at,least |
R3673 |
T5412 |
T5413 |
advmod |
least,during |
R3674 |
T5413 |
T5410 |
prep |
during,exchange |
R3675 |
T5414 |
T5415 |
det |
the,reaction |
R3676 |
T5415 |
T5413 |
pobj |
reaction,during |
R3677 |
T5416 |
T5415 |
compound |
NER,reaction |
R3678 |
T5417 |
T5365 |
punct |
.,is |
R3679 |
T5419 |
T5420 |
advmod |
Furthermore,known |
R368 |
T696 |
T697 |
det |
a,allele |
R3680 |
T5421 |
T5420 |
punct |
", ",known |
R3681 |
T5422 |
T5420 |
nsubjpass |
XPD,known |
R3682 |
T5423 |
T5420 |
auxpass |
is,known |
R3683 |
T5424 |
T5425 |
aux |
to,be |
R3684 |
T5425 |
T5420 |
xcomp |
be,known |
R3685 |
T5426 |
T5427 |
det |
a,subunit |
R3686 |
T5427 |
T5425 |
attr |
subunit,be |
R3687 |
T5428 |
T5427 |
advmod |
“,subunit |
R3688 |
T5429 |
T5430 |
advmod |
loosely,bound |
R3689 |
T5430 |
T5427 |
amod |
bound,subunit |
R369 |
T697 |
T695 |
pobj |
allele,of |
R3690 |
T5431 |
T5427 |
punct |
”,subunit |
R3691 |
T5432 |
T5427 |
prep |
of,subunit |
R3692 |
T5433 |
T5432 |
pobj |
TFIIH,of |
R3693 |
T5434 |
T5435 |
punct |
[,27 |
R3694 |
T5435 |
T5420 |
parataxis |
27,known |
R3695 |
T5436 |
T5435 |
punct |
],27 |
R3696 |
T5437 |
T5420 |
punct |
.,known |
R3697 |
T5439 |
T5440 |
nsubj |
We,envisage |
R3698 |
T5441 |
T5440 |
advmod |
thus,envisage |
R3699 |
T5442 |
T5443 |
det |
the,mechanism |
R370 |
T698 |
T697 |
amod |
dominant,allele |
R3700 |
T5443 |
T5445 |
nsubj |
mechanism,involve |
R3701 |
T5444 |
T5443 |
amod |
molecular,mechanism |
R3702 |
T5445 |
T5440 |
ccomp |
involve,envisage |
R3703 |
T5446 |
T5443 |
prep |
of,mechanism |
R3704 |
T5447 |
T5448 |
amod |
interallelic,complementation |
R3705 |
T5448 |
T5446 |
pobj |
complementation,of |
R3706 |
T5449 |
T5445 |
aux |
to,involve |
R3707 |
T5450 |
T5451 |
det |
the,exchange |
R3708 |
T5451 |
T5445 |
dobj |
exchange,involve |
R3709 |
T5452 |
T5451 |
prep |
of,exchange |
R371 |
T699 |
T697 |
punct |
(,allele |
R3710 |
T5453 |
T5454 |
compound |
XPD,molecules |
R3711 |
T5454 |
T5452 |
pobj |
molecules,of |
R3712 |
T5455 |
T5451 |
prep |
within,exchange |
R3713 |
T5456 |
T5457 |
det |
the,complex |
R3714 |
T5457 |
T5455 |
pobj |
complex,within |
R3715 |
T5458 |
T5457 |
compound |
TFIIH,complex |
R3716 |
T5459 |
T5451 |
cc |
or,exchange |
R3717 |
T5460 |
T5451 |
conj |
turnover,exchange |
R3718 |
T5461 |
T5460 |
prep |
of,turnover |
R3719 |
T5462 |
T5463 |
compound |
TFIIH,complexes |
R372 |
T700 |
T701 |
amod |
wild,type |
R3720 |
T5463 |
T5461 |
pobj |
complexes,of |
R3721 |
T5464 |
T5463 |
acl |
containing,complexes |
R3722 |
T5465 |
T5466 |
amod |
different,molecules |
R3723 |
T5466 |
T5464 |
dobj |
molecules,containing |
R3724 |
T5467 |
T5466 |
compound |
XPD,molecules |
R3725 |
T5468 |
T5460 |
prep |
at,turnover |
R3726 |
T5469 |
T5470 |
det |
the,site |
R3727 |
T5470 |
T5468 |
pobj |
site,at |
R3728 |
T5471 |
T5470 |
prep |
of,site |
R3729 |
T5472 |
T5473 |
compound |
DNA,damage |
R373 |
T701 |
T697 |
nmod |
type,allele |
R3730 |
T5473 |
T5471 |
pobj |
damage,of |
R3731 |
T5474 |
T5460 |
prep |
during,turnover |
R3732 |
T5475 |
T5476 |
det |
the,course |
R3733 |
T5476 |
T5474 |
pobj |
course,during |
R3734 |
T5477 |
T5476 |
prep |
of,course |
R3735 |
T5478 |
T5479 |
det |
the,genome |
R3736 |
T5479 |
T5477 |
pobj |
genome,of |
R3737 |
T5480 |
T5479 |
amod |
global,genome |
R3738 |
T5481 |
T5482 |
advmod |
as,as |
R3739 |
T5482 |
T5451 |
cc |
as,exchange |
R374 |
T702 |
T701 |
punct |
-,type |
R3740 |
T5483 |
T5482 |
advmod |
well,as |
R3741 |
T5484 |
T5485 |
npadvmod |
transcription,coupled |
R3742 |
T5485 |
T5487 |
amod |
coupled,repair |
R3743 |
T5486 |
T5485 |
punct |
-,coupled |
R3744 |
T5487 |
T5451 |
conj |
repair,exchange |
R3745 |
T5488 |
T5487 |
prep |
of,repair |
R3746 |
T5489 |
T5490 |
preconj |
either,damage |
R3747 |
T5490 |
T5488 |
pobj |
damage,of |
R3748 |
T5491 |
T5492 |
npadvmod |
UV,induced |
R3749 |
T5492 |
T5490 |
amod |
induced,damage |
R375 |
T703 |
T701 |
punct |
[,type |
R3750 |
T5493 |
T5492 |
punct |
-,induced |
R3751 |
T5494 |
T5492 |
cc |
or,induced |
R3752 |
T5495 |
T5492 |
conj |
endogenous,induced |
R3753 |
T5496 |
T5490 |
compound |
DNA,damage |
R3754 |
T5497 |
T5440 |
punct |
.,envisage |
R3755 |
T5607 |
T5608 |
det |
A,Paradigm |
R3756 |
T5609 |
T5608 |
amod |
Biallelic,Paradigm |
R3757 |
T5610 |
T5608 |
prep |
for,Paradigm |
R3758 |
T5611 |
T5612 |
compound |
XPD,Disorders |
R3759 |
T5612 |
T5610 |
pobj |
Disorders,for |
R376 |
T704 |
T701 |
appos |
wt,type |
R3760 |
T5614 |
T5615 |
advmod |
Recently,characterised |
R3761 |
T5616 |
T5615 |
punct |
", ",characterised |
R3762 |
T5617 |
T5615 |
nsubjpass |
proteins,characterised |
R3763 |
T5618 |
T5617 |
acl |
originating,proteins |
R3764 |
T5619 |
T5618 |
prep |
from,originating |
R3765 |
T5620 |
T5621 |
amod |
presumed,alleles |
R3766 |
T5621 |
T5619 |
pobj |
alleles,from |
R3767 |
T5622 |
T5621 |
amod |
null,alleles |
R3768 |
T5623 |
T5615 |
auxpass |
were,characterised |
R3769 |
T5624 |
T5615 |
advmod |
biochemically,characterised |
R377 |
T705 |
T697 |
punct |
],allele |
R3770 |
T5625 |
T5615 |
prep |
as,characterised |
R3771 |
T5626 |
T5625 |
amod |
inactive,as |
R3772 |
T5627 |
T5615 |
prep |
in,characterised |
R3773 |
T5628 |
T5629 |
amod |
basal,transcription |
R3774 |
T5629 |
T5627 |
pobj |
transcription,in |
R3775 |
T5630 |
T5631 |
punct |
[,27 |
R3776 |
T5631 |
T5615 |
parataxis |
27,characterised |
R3777 |
T5632 |
T5631 |
punct |
],27 |
R3778 |
T5633 |
T5615 |
punct |
", ",characterised |
R3779 |
T5634 |
T5615 |
advcl |
providing,characterised |
R378 |
T706 |
T697 |
punct |
),allele |
R3780 |
T5635 |
T5636 |
det |
an,explanation |
R3781 |
T5636 |
T5634 |
dobj |
explanation,providing |
R3782 |
T5637 |
T5636 |
prep |
as,explanation |
R3783 |
T5638 |
T5637 |
prep |
to,as |
R3784 |
T5639 |
T5640 |
advmod |
why,failed |
R3785 |
T5640 |
T5638 |
pcomp |
failed,to |
R3786 |
T5641 |
T5642 |
det |
these,alleles |
R3787 |
T5642 |
T5640 |
nsubj |
alleles,failed |
R3788 |
T5643 |
T5644 |
aux |
to,rescue |
R3789 |
T5644 |
T5640 |
xcomp |
rescue,failed |
R379 |
T707 |
T692 |
punct |
", ",result |
R3790 |
T5645 |
T5644 |
dobj |
lethality,rescue |
R3791 |
T5646 |
T5644 |
prep |
in,rescue |
R3792 |
T5647 |
T5648 |
amod |
haploid,pombe |
R3793 |
T5648 |
T5646 |
pobj |
pombe,in |
R3794 |
T5649 |
T5648 |
nmod |
S.,pombe |
R3795 |
T5650 |
T5648 |
prep |
with,pombe |
R3796 |
T5651 |
T5652 |
det |
a,mutation |
R3797 |
T5652 |
T5650 |
pobj |
mutation,with |
R3798 |
T5653 |
T5652 |
amod |
null,mutation |
R3799 |
T5654 |
T5652 |
prep |
in,mutation |
R380 |
T708 |
T709 |
amod |
genetic,interactions |
R3800 |
T5655 |
T5656 |
det |
the,homologue |
R3801 |
T5656 |
T5654 |
pobj |
homologue,in |
R3802 |
T5657 |
T5656 |
compound |
XPD,homologue |
R3803 |
T5658 |
T5656 |
appos |
rad15,homologue |
R3804 |
T5659 |
T5660 |
punct |
[,19 |
R3805 |
T5660 |
T5640 |
parataxis |
19,failed |
R3806 |
T5661 |
T5660 |
punct |
],19 |
R3807 |
T5662 |
T5615 |
punct |
.,characterised |
R3808 |
T5664 |
T5665 |
poss |
Our,data |
R3809 |
T5665 |
T5666 |
nsubj |
data,suggest |
R381 |
T709 |
T692 |
nsubj |
interactions,result |
R3810 |
T5667 |
T5668 |
mark |
that,have |
R3811 |
T5668 |
T5666 |
ccomp |
have,suggest |
R3812 |
T5669 |
T5670 |
amod |
certain,alleles |
R3813 |
T5670 |
T5668 |
nsubj |
alleles,have |
R3814 |
T5671 |
T5672 |
advmod |
presumed,null |
R3815 |
T5672 |
T5670 |
amod |
null,alleles |
R3816 |
T5673 |
T5668 |
punct |
", ",have |
R3817 |
T5674 |
T5675 |
mark |
although,unable |
R3818 |
T5675 |
T5668 |
advcl |
unable,have |
R3819 |
T5676 |
T5677 |
prep |
on,support |
R382 |
T710 |
T709 |
prep |
between,interactions |
R3820 |
T5677 |
T5675 |
xcomp |
support,unable |
R3821 |
T5678 |
T5679 |
poss |
their,own |
R3822 |
T5679 |
T5676 |
pobj |
own,on |
R3823 |
T5680 |
T5677 |
aux |
to,support |
R3824 |
T5681 |
T5682 |
amod |
basal,transcription |
R3825 |
T5682 |
T5677 |
dobj |
transcription,support |
R3826 |
T5683 |
T5668 |
punct |
", ",have |
R3827 |
T5684 |
T5668 |
aux |
may,have |
R3828 |
T5685 |
T5668 |
prep |
in,have |
R3829 |
T5686 |
T5685 |
pobj |
fact,in |
R383 |
T711 |
T712 |
amod |
recessive,alleles |
R3830 |
T5687 |
T5688 |
det |
a,impact |
R3831 |
T5688 |
T5668 |
dobj |
impact,have |
R3832 |
T5689 |
T5688 |
amod |
substantial,impact |
R3833 |
T5690 |
T5688 |
prep |
on,impact |
R3834 |
T5691 |
T5692 |
compound |
disease,outcome |
R3835 |
T5692 |
T5690 |
pobj |
outcome,on |
R3836 |
T5693 |
T5688 |
prep |
in,impact |
R3837 |
T5694 |
T5695 |
nmod |
compound,humans |
R3838 |
T5695 |
T5693 |
pobj |
humans,in |
R3839 |
T5696 |
T5695 |
amod |
heterozygous,humans |
R384 |
T712 |
T710 |
pobj |
alleles,between |
R3840 |
T5697 |
T5668 |
punct |
", ",have |
R3841 |
T5698 |
T5699 |
mark |
as,in |
R3842 |
T5699 |
T5668 |
advcl |
in,have |
R3843 |
T5700 |
T5699 |
nsubj |
they,in |
R3844 |
T5701 |
T5699 |
aux |
do,in |
R3845 |
T5702 |
T5703 |
compound |
mouse,models |
R3846 |
T5703 |
T5699 |
pobj |
models,in |
R3847 |
T5704 |
T5666 |
punct |
.,suggest |
R3848 |
T5706 |
T5707 |
amod |
Clinical,evidence |
R3849 |
T5707 |
T5708 |
nsubj |
evidence,comes |
R385 |
T713 |
T709 |
punct |
(,interactions |
R3850 |
T5709 |
T5707 |
prep |
in,evidence |
R3851 |
T5710 |
T5709 |
pobj |
support,in |
R3852 |
T5711 |
T5710 |
prep |
of,support |
R3853 |
T5712 |
T5713 |
det |
this,hypothesis |
R3854 |
T5713 |
T5711 |
pobj |
hypothesis,of |
R3855 |
T5714 |
T5708 |
prep |
from,comes |
R3856 |
T5715 |
T5716 |
det |
a,number |
R3857 |
T5716 |
T5714 |
pobj |
number,from |
R3858 |
T5717 |
T5716 |
prep |
of,number |
R3859 |
T5718 |
T5719 |
compound |
XP,patients |
R386 |
T714 |
T709 |
acl |
referred,interactions |
R3860 |
T5719 |
T5717 |
pobj |
patients,of |
R3861 |
T5720 |
T5719 |
compound |
complementation,patients |
R3862 |
T5721 |
T5722 |
compound |
group,D |
R3863 |
T5722 |
T5719 |
compound |
D,patients |
R3864 |
T5723 |
T5724 |
dep |
that,fit |
R3865 |
T5724 |
T5719 |
relcl |
fit,patients |
R3866 |
T5725 |
T5724 |
aux |
do,fit |
R3867 |
T5726 |
T5724 |
neg |
not,fit |
R3868 |
T5727 |
T5724 |
prep |
within,fit |
R3869 |
T5728 |
T5729 |
det |
the,framework |
R387 |
T715 |
T714 |
prep |
to,referred |
R3870 |
T5729 |
T5727 |
pobj |
framework,within |
R3871 |
T5730 |
T5729 |
prep |
of,framework |
R3872 |
T5731 |
T5732 |
det |
the,paradigm |
R3873 |
T5732 |
T5730 |
pobj |
paradigm,of |
R3874 |
T5733 |
T5732 |
amod |
current,paradigm |
R3875 |
T5734 |
T5732 |
amod |
monoallelic,paradigm |
R3876 |
T5735 |
T5732 |
prep |
of,paradigm |
R3877 |
T5736 |
T5737 |
compound |
XPD,disorders |
R3878 |
T5737 |
T5735 |
pobj |
disorders,of |
R3879 |
T5738 |
T5739 |
punct |
(,Figure |
R388 |
T716 |
T714 |
advmod |
here,referred |
R3880 |
T5739 |
T5708 |
parataxis |
Figure,comes |
R3881 |
T5740 |
T5739 |
nummod |
5,Figure |
R3882 |
T5741 |
T5739 |
punct |
),Figure |
R3883 |
T5742 |
T5708 |
punct |
.,comes |
R3884 |
T5744 |
T5745 |
prep |
In,had |
R3885 |
T5746 |
T5744 |
pobj |
contrast,In |
R3886 |
T5747 |
T5746 |
prep |
to,contrast |
R3887 |
T5748 |
T5749 |
nummod |
two,patients |
R3888 |
T5749 |
T5747 |
pobj |
patients,to |
R3889 |
T5750 |
T5749 |
amod |
hemizygous,patients |
R389 |
T717 |
T714 |
prep |
as,referred |
R3890 |
T5751 |
T5749 |
compound |
XPDXPCS,patients |
R3891 |
T5752 |
T5749 |
acl |
carrying,patients |
R3892 |
T5753 |
T5754 |
det |
the,alleles |
R3893 |
T5754 |
T5752 |
dobj |
alleles,carrying |
R3894 |
T5755 |
T5756 |
npadvmod |
XPDG47R,encoding |
R3895 |
T5756 |
T5754 |
amod |
encoding,alleles |
R3896 |
T5757 |
T5755 |
punct |
-,XPDG47R |
R3897 |
T5758 |
T5755 |
cc |
or,XPDG47R |
R3898 |
T5759 |
T5755 |
conj |
XPDR666W,XPDG47R |
R3899 |
T5760 |
T5756 |
punct |
-,encoding |
R390 |
T718 |
T717 |
punct |
“,as |
R3900 |
T5761 |
T5762 |
dep |
who,died |
R3901 |
T5762 |
T5754 |
relcl |
died,alleles |
R3902 |
T5763 |
T5762 |
prep |
of,died |
R3903 |
T5764 |
T5765 |
det |
the,disease |
R3904 |
T5765 |
T5763 |
pobj |
disease,of |
R3905 |
T5766 |
T5762 |
prep |
before,died |
R3906 |
T5767 |
T5768 |
nummod |
2,y |
R3907 |
T5768 |
T5766 |
pobj |
y,before |
R3908 |
T5769 |
T5768 |
prep |
of,y |
R3909 |
T5770 |
T5769 |
pobj |
age,of |
R391 |
T719 |
T720 |
amod |
biallelic,effects |
R3910 |
T5771 |
T5745 |
punct |
", ",had |
R3911 |
T5772 |
T5773 |
nummod |
two,patients |
R3912 |
T5773 |
T5745 |
nsubj |
patients,had |
R3913 |
T5774 |
T5773 |
amod |
compound,patients |
R3914 |
T5775 |
T5773 |
amod |
heterozygous,patients |
R3915 |
T5776 |
T5773 |
compound |
XPDXPCS,patients |
R3916 |
T5777 |
T5773 |
acl |
carrying,patients |
R3917 |
T5778 |
T5779 |
det |
the,alleles |
R3918 |
T5779 |
T5777 |
dobj |
alleles,carrying |
R3919 |
T5780 |
T5779 |
amod |
same,alleles |
R392 |
T720 |
T717 |
pobj |
effects,as |
R3920 |
T5781 |
T5782 |
npadvmod |
XPDG47R,encoding |
R3921 |
T5782 |
T5779 |
amod |
encoding,alleles |
R3922 |
T5783 |
T5781 |
punct |
-,XPDG47R |
R3923 |
T5784 |
T5781 |
cc |
or,XPDG47R |
R3924 |
T5785 |
T5781 |
conj |
XPDR666W,XPDG47R |
R3925 |
T5786 |
T5782 |
punct |
-,encoding |
R3926 |
T5787 |
T5779 |
prep |
in,alleles |
R3927 |
T5788 |
T5787 |
pobj |
addition,in |
R3928 |
T5789 |
T5788 |
prep |
to,addition |
R3929 |
T5790 |
T5791 |
det |
the,730 |
R393 |
T721 |
T720 |
punct |
”,effects |
R3930 |
T5791 |
T5789 |
pobj |
730,to |
R3931 |
T5792 |
T5793 |
advmod |
presumed,null |
R3932 |
T5793 |
T5791 |
amod |
null,730 |
R3933 |
T5794 |
T5791 |
nmod |
XPDL461V,730 |
R3934 |
T5795 |
T5791 |
punct |
+,730 |
R3935 |
T5796 |
T5791 |
compound |
del716,730 |
R3936 |
T5797 |
T5791 |
punct |
−,730 |
R3937 |
T5798 |
T5773 |
appos |
both,patients |
R3938 |
T5799 |
T5800 |
advmod |
considerably,milder |
R3939 |
T5800 |
T5801 |
amod |
milder,symptoms |
R394 |
T722 |
T692 |
punct |
),result |
R3940 |
T5801 |
T5745 |
dobj |
symptoms,had |
R3941 |
T5802 |
T5801 |
compound |
disease,symptoms |
R3942 |
T5803 |
T5745 |
cc |
and,had |
R3943 |
T5804 |
T5745 |
conj |
survived,had |
R3944 |
T5805 |
T5806 |
amod |
more,ten |
R3945 |
T5806 |
T5808 |
nummod |
ten,times |
R3946 |
T5807 |
T5806 |
quantmod |
than,ten |
R3947 |
T5808 |
T5809 |
npadvmod |
times,longer |
R3948 |
T5809 |
T5804 |
advmod |
longer,survived |
R3949 |
T5810 |
T5811 |
punct |
(,A. |
R395 |
T723 |
T692 |
aux |
could,result |
R3950 |
T5811 |
T5804 |
meta |
A.,survived |
R3951 |
T5812 |
T5811 |
nmod |
Lehmann,A. |
R3952 |
T5813 |
T5811 |
punct |
", ",A. |
R3953 |
T5814 |
T5811 |
amod |
personal,A. |
R3954 |
T5815 |
T5811 |
nmod |
communication,A. |
R3955 |
T5816 |
T5811 |
punct |
),A. |
R3956 |
T5817 |
T5818 |
punct |
(,Figure |
R3957 |
T5818 |
T5804 |
parataxis |
Figure,survived |
R3958 |
T5819 |
T5818 |
nummod |
5,Figure |
R3959 |
T5820 |
T5818 |
punct |
),Figure |
R396 |
T724 |
T692 |
prep |
in,result |
R3960 |
T5821 |
T5745 |
punct |
.,had |
R3961 |
T5823 |
T5824 |
compound |
Compound,heterozygosity |
R3962 |
T5824 |
T5825 |
nsubjpass |
heterozygosity,associated |
R3963 |
T5826 |
T5825 |
auxpass |
is,associated |
R3964 |
T5827 |
T5825 |
advmod |
also,associated |
R3965 |
T5828 |
T5825 |
prep |
with,associated |
R3966 |
T5829 |
T5830 |
det |
the,syndrome |
R3967 |
T5830 |
T5828 |
pobj |
syndrome,with |
R3968 |
T5831 |
T5832 |
advmod |
recently,reported |
R3969 |
T5832 |
T5830 |
amod |
reported,syndrome |
R397 |
T725 |
T726 |
amod |
different,outcomes |
R3970 |
T5833 |
T5830 |
nmod |
combination,syndrome |
R3971 |
T5834 |
T5830 |
nmod |
XP,syndrome |
R3972 |
T5835 |
T5834 |
cc |
and,XP |
R3973 |
T5836 |
T5834 |
conj |
TTD,XP |
R3974 |
T5837 |
T5838 |
punct |
(,XPTTD |
R3975 |
T5838 |
T5836 |
parataxis |
XPTTD,TTD |
R3976 |
T5839 |
T5838 |
punct |
),XPTTD |
R3977 |
T5840 |
T5841 |
punct |
[,8 |
R3978 |
T5841 |
T5825 |
parataxis |
8,associated |
R3979 |
T5842 |
T5841 |
punct |
],8 |
R398 |
T726 |
T724 |
pobj |
outcomes,in |
R3980 |
T5843 |
T5825 |
punct |
.,associated |
R3981 |
T5845 |
T5846 |
advcl |
Similar,had |
R3982 |
T5847 |
T5845 |
prep |
to,Similar |
R3983 |
T5848 |
T5849 |
det |
the,mice |
R3984 |
T5849 |
T5847 |
pobj |
mice,to |
R3985 |
T5850 |
T5851 |
nmod |
XpdTTD,†XPCS |
R3986 |
T5851 |
T5849 |
nmod |
†XPCS,mice |
R3987 |
T5852 |
T5851 |
punct |
/,†XPCS |
R3988 |
T5853 |
T5851 |
cc |
and,†XPCS |
R3989 |
T5854 |
T5855 |
compound |
XpdTTD,†XP |
R399 |
T727 |
T726 |
amod |
phenotypic,outcomes |
R3990 |
T5855 |
T5851 |
conj |
†XP,†XPCS |
R3991 |
T5856 |
T5855 |
punct |
/,†XP |
R3992 |
T5857 |
T5849 |
acl |
described,mice |
R3993 |
T5858 |
T5857 |
advmod |
here,described |
R3994 |
T5859 |
T5846 |
punct |
", ",had |
R3995 |
T5860 |
T5861 |
det |
both,patients |
R3996 |
T5861 |
T5846 |
nsubj |
patients,had |
R3997 |
T5862 |
T5861 |
prep |
with,patients |
R3998 |
T5863 |
T5862 |
pobj |
XPTTD,with |
R3999 |
T5864 |
T5861 |
acl |
described,patients |
R400 |
T728 |
T726 |
prep |
including,outcomes |
R4000 |
T5865 |
T5866 |
advmod |
so,far |
R4001 |
T5866 |
T5864 |
advmod |
far,described |
R4002 |
T5867 |
T5868 |
amod |
intermediate,values |
R4003 |
T5868 |
T5846 |
dobj |
values,had |
R4004 |
T5869 |
T5870 |
compound |
hair,cysteine |
R4005 |
T5870 |
T5868 |
compound |
cysteine,values |
R4006 |
T5871 |
T5846 |
punct |
.,had |
R4007 |
T5873 |
T5874 |
advmod |
Furthermore,carried |
R4008 |
T5875 |
T5874 |
punct |
", ",carried |
R4009 |
T5876 |
T5877 |
compound |
XPTTD,XP38BR |
R401 |
T729 |
T730 |
amod |
interallelic,complementation |
R4010 |
T5877 |
T5874 |
nsubj |
XP38BR,carried |
R4011 |
T5878 |
T5877 |
compound |
patient,XP38BR |
R4012 |
T5879 |
T5880 |
det |
a,mutation |
R4013 |
T5880 |
T5874 |
dobj |
mutation,carried |
R4014 |
T5881 |
T5880 |
punct |
“,mutation |
R4015 |
T5882 |
T5880 |
amod |
causative,mutation |
R4016 |
T5883 |
T5880 |
punct |
”,mutation |
R4017 |
T5884 |
T5880 |
compound |
TTD,mutation |
R4018 |
T5885 |
T5874 |
prep |
in,carried |
R4019 |
T5886 |
T5887 |
nummod |
one,allele |
R402 |
T730 |
T728 |
pobj |
complementation,including |
R4020 |
T5887 |
T5885 |
pobj |
allele,in |
R4021 |
T5888 |
T5874 |
cc |
and,carried |
R4022 |
T5889 |
T5890 |
det |
a,mutation |
R4023 |
T5890 |
T5874 |
conj |
mutation,carried |
R4024 |
T5891 |
T5890 |
amod |
novel,mutation |
R4025 |
T5892 |
T5890 |
compound |
point,mutation |
R4026 |
T5893 |
T5890 |
acl |
encoding,mutation |
R4027 |
T5894 |
T5893 |
dobj |
XPDL485P,encoding |
R4028 |
T5895 |
T5890 |
prep |
in,mutation |
R4029 |
T5896 |
T5897 |
det |
the,other |
R403 |
T731 |
T692 |
punct |
.,result |
R4030 |
T5897 |
T5895 |
pobj |
other,in |
R4031 |
T5898 |
T5874 |
punct |
.,carried |
R4032 |
T5900 |
T5901 |
mark |
Although,fails |
R4033 |
T5901 |
T5907 |
advcl |
fails,suggest |
R4034 |
T5902 |
T5903 |
det |
the,allele |
R4035 |
T5903 |
T5901 |
nsubj |
allele,fails |
R4036 |
T5904 |
T5905 |
npadvmod |
XPDL485P,encoding |
R4037 |
T5905 |
T5903 |
amod |
encoding,allele |
R4038 |
T5906 |
T5905 |
punct |
-,encoding |
R4039 |
T5908 |
T5909 |
aux |
to,complement |
R404 |
T733 |
T734 |
mark |
Although,create |
R4040 |
T5909 |
T5901 |
xcomp |
complement,fails |
R4041 |
T5910 |
T5909 |
dobj |
viability,complement |
R4042 |
T5911 |
T5909 |
prep |
in,complement |
R4043 |
T5912 |
T5913 |
det |
the,strain |
R4044 |
T5913 |
T5911 |
pobj |
strain,in |
R4045 |
T5914 |
T5913 |
amod |
haploid,strain |
R4046 |
T5915 |
T5913 |
nmod |
S.,strain |
R4047 |
T5916 |
T5913 |
nmod |
pombe,strain |
R4048 |
T5917 |
T5913 |
compound |
rad15,strain |
R4049 |
T5918 |
T5913 |
compound |
deletion,strain |
R405 |
T734 |
T743 |
advcl |
create,caused |
R4050 |
T5919 |
T5901 |
cc |
and,fails |
R4051 |
T5920 |
T5901 |
conj |
is,fails |
R4052 |
T5921 |
T5920 |
advmod |
thus,is |
R4053 |
T5922 |
T5920 |
acomp |
interpretable,is |
R4054 |
T5923 |
T5922 |
prep |
as,interpretable |
R4055 |
T5924 |
T5925 |
det |
a,allele |
R4056 |
T5925 |
T5923 |
pobj |
allele,as |
R4057 |
T5926 |
T5925 |
amod |
null,allele |
R4058 |
T5927 |
T5928 |
punct |
[,8 |
R4059 |
T5928 |
T5920 |
parataxis |
8,is |
R406 |
T735 |
T734 |
nsubj |
amelioration,create |
R4060 |
T5929 |
T5928 |
punct |
],8 |
R4061 |
T5930 |
T5907 |
punct |
", ",suggest |
R4062 |
T5931 |
T5907 |
nsubj |
we,suggest |
R4063 |
T5932 |
T5907 |
advmod |
nonetheless,suggest |
R4064 |
T5933 |
T5934 |
mark |
that,involves |
R4065 |
T5934 |
T5907 |
ccomp |
involves,suggest |
R4066 |
T5935 |
T5936 |
det |
the,phenotype |
R4067 |
T5936 |
T5934 |
nsubj |
phenotype,involves |
R4068 |
T5937 |
T5936 |
amod |
combined,phenotype |
R4069 |
T5938 |
T5936 |
compound |
XPTTD,phenotype |
R407 |
T736 |
T735 |
prep |
of,amelioration |
R4070 |
T5939 |
T5936 |
prep |
in,phenotype |
R4071 |
T5940 |
T5941 |
det |
this,patient |
R4072 |
T5941 |
T5939 |
pobj |
patient,in |
R4073 |
T5942 |
T5943 |
amod |
phenotypic,contributions |
R4074 |
T5943 |
T5934 |
dobj |
contributions,involves |
R4075 |
T5944 |
T5943 |
prep |
from,contributions |
R4076 |
T5945 |
T5946 |
det |
both,alleles |
R4077 |
T5946 |
T5944 |
pobj |
alleles,from |
R4078 |
T5947 |
T5907 |
punct |
.,suggest |
R4079 |
T5949 |
T5950 |
advcl |
Taken,suggest |
R408 |
T737 |
T738 |
compound |
disease,symptoms |
R4080 |
T5951 |
T5949 |
advmod |
together,Taken |
R4081 |
T5952 |
T5950 |
punct |
", ",suggest |
R4082 |
T5953 |
T5954 |
det |
these,data |
R4083 |
T5954 |
T5950 |
nsubj |
data,suggest |
R4084 |
T5955 |
T5956 |
det |
a,shift |
R4085 |
T5956 |
T5950 |
dobj |
shift,suggest |
R4086 |
T5957 |
T5956 |
prep |
to,shift |
R4087 |
T5958 |
T5959 |
det |
a,paradigm |
R4088 |
T5959 |
T5957 |
pobj |
paradigm,to |
R4089 |
T5960 |
T5959 |
amod |
biallelic,paradigm |
R409 |
T738 |
T736 |
pobj |
symptoms,of |
R4090 |
T5961 |
T5959 |
prep |
for,paradigm |
R4091 |
T5962 |
T5963 |
nmod |
compound,patients |
R4092 |
T5963 |
T5961 |
pobj |
patients,for |
R4093 |
T5964 |
T5963 |
amod |
heterozygous,patients |
R4094 |
T5965 |
T5963 |
prep |
in,patients |
R4095 |
T5966 |
T5967 |
compound |
XP,D |
R4096 |
T5967 |
T5965 |
pobj |
D,in |
R4097 |
T5968 |
T5967 |
compound |
complementation,D |
R4098 |
T5969 |
T5967 |
compound |
group,D |
R4099 |
T5970 |
T5950 |
punct |
.,suggest |
R410 |
T739 |
T735 |
prep |
by,amelioration |
R4100 |
T6042 |
T6041 |
prep |
of,Potential |
R4101 |
T6043 |
T6044 |
amod |
Combined,Alleles |
R4102 |
T6044 |
T6042 |
pobj |
Alleles,of |
R4103 |
T6045 |
T6044 |
amod |
Recessive,Alleles |
R4104 |
T6046 |
T6047 |
aux |
to,Affect |
R4105 |
T6047 |
T6041 |
acl |
Affect,Potential |
R4106 |
T6048 |
T6049 |
amod |
Phenotypic,Diversity |
R4107 |
T6049 |
T6047 |
dobj |
Diversity,Affect |
R4108 |
T6050 |
T6047 |
prep |
in,Affect |
R4109 |
T6051 |
T6050 |
pobj |
Mammals,in |
R411 |
T740 |
T741 |
amod |
interallelic,complementation |
R4110 |
T6053 |
T6054 |
prep |
In,remains |
R4111 |
T6055 |
T6053 |
pobj |
humans,In |
R4112 |
T6056 |
T6054 |
punct |
", ",remains |
R4113 |
T6057 |
T6058 |
det |
the,relevance |
R4114 |
T6058 |
T6054 |
nsubj |
relevance,remains |
R4115 |
T6059 |
T6058 |
amod |
clinical,relevance |
R4116 |
T6060 |
T6058 |
prep |
of,relevance |
R4117 |
T6061 |
T6062 |
amod |
biallelic,effects |
R4118 |
T6062 |
T6060 |
pobj |
effects,of |
R4119 |
T6063 |
T6064 |
amod |
such,as |
R412 |
T741 |
T739 |
pobj |
complementation,by |
R4120 |
T6064 |
T6062 |
prep |
as,effects |
R4121 |
T6065 |
T6066 |
amod |
interallelic,complementation |
R4122 |
T6066 |
T6064 |
pobj |
complementation,as |
R4123 |
T6067 |
T6054 |
acomp |
unknown,remains |
R4124 |
T6068 |
T6054 |
punct |
.,remains |
R4125 |
T6070 |
T6071 |
mark |
Although,described |
R4126 |
T6071 |
T6081 |
advcl |
described,noted |
R4127 |
T6072 |
T6073 |
amod |
interallelic,complementation |
R4128 |
T6073 |
T6071 |
nsubjpass |
complementation,described |
R4129 |
T6074 |
T6073 |
prep |
between,complementation |
R413 |
T742 |
T734 |
aux |
would,create |
R4130 |
T6075 |
T6076 |
nummod |
two,alleles |
R4131 |
T6076 |
T6074 |
pobj |
alleles,between |
R4132 |
T6077 |
T6076 |
amod |
endogenous,alleles |
R4133 |
T6078 |
T6076 |
amod |
mutant,alleles |
R4134 |
T6079 |
T6071 |
aux |
has,described |
R4135 |
T6080 |
T6071 |
auxpass |
been,described |
R4136 |
T6082 |
T6071 |
prep |
in,described |
R4137 |
T6083 |
T6082 |
pobj |
cells,in |
R4138 |
T6084 |
T6083 |
prep |
from,cells |
R4139 |
T6085 |
T6086 |
det |
a,patient |
R414 |
T744 |
T745 |
det |
an,bias |
R4140 |
T6086 |
T6084 |
pobj |
patient,from |
R4141 |
T6087 |
T6086 |
nmod |
compound,patient |
R4142 |
T6088 |
T6086 |
amod |
heterozygous,patient |
R4143 |
T6089 |
T6086 |
prep |
with,patient |
R4144 |
T6090 |
T6091 |
amod |
methylmalonic,acidaemia |
R4145 |
T6091 |
T6089 |
pobj |
acidaemia,with |
R4146 |
T6092 |
T6081 |
punct |
", ",noted |
R4147 |
T6093 |
T6094 |
det |
no,effects |
R4148 |
T6094 |
T6081 |
nsubjpass |
effects,noted |
R4149 |
T6095 |
T6094 |
amod |
observable,effects |
R415 |
T745 |
T734 |
dobj |
bias,create |
R4150 |
T6096 |
T6094 |
prep |
on,effects |
R4151 |
T6097 |
T6098 |
compound |
disease,outcome |
R4152 |
T6098 |
T6096 |
pobj |
outcome,on |
R4153 |
T6099 |
T6081 |
auxpass |
were,noted |
R4154 |
T6100 |
T6081 |
prep |
in,noted |
R4155 |
T6101 |
T6102 |
det |
the,patient |
R4156 |
T6102 |
T6100 |
pobj |
patient,in |
R4157 |
T6103 |
T6104 |
punct |
[,28 |
R4158 |
T6104 |
T6081 |
parataxis |
28,noted |
R4159 |
T6105 |
T6104 |
punct |
],28 |
R416 |
T746 |
T745 |
compound |
ascertainment,bias |
R4160 |
T6106 |
T6081 |
punct |
.,noted |
R4161 |
T6108 |
T6109 |
advmod |
Thus,is |
R4162 |
T6110 |
T6109 |
punct |
", ",is |
R4163 |
T6111 |
T6109 |
prep |
to,is |
R4164 |
T6112 |
T6113 |
det |
the,best |
R4165 |
T6113 |
T6111 |
pobj |
best,to |
R4166 |
T6114 |
T6113 |
prep |
of,best |
R4167 |
T6115 |
T6116 |
poss |
our,knowledge |
R4168 |
T6116 |
T6114 |
pobj |
knowledge,of |
R4169 |
T6117 |
T6109 |
punct |
", ",is |
R417 |
T747 |
T734 |
prep |
in,create |
R4170 |
T6118 |
T6119 |
det |
the,amelioration |
R4171 |
T6119 |
T6109 |
nsubj |
amelioration,is |
R4172 |
T6120 |
T6119 |
prep |
of,amelioration |
R4173 |
T6121 |
T6122 |
amod |
progeroid,features |
R4174 |
T6122 |
T6120 |
pobj |
features,of |
R4175 |
T6123 |
T6119 |
acl |
observed,amelioration |
R4176 |
T6124 |
T6123 |
advmod |
here,observed |
R4177 |
T6125 |
T6126 |
det |
the,demonstration |
R4178 |
T6126 |
T6109 |
attr |
demonstration,is |
R4179 |
T6127 |
T6126 |
amod |
first,demonstration |
R418 |
T748 |
T749 |
det |
the,clinic |
R4180 |
T6128 |
T6129 |
advmod |
in,vivo |
R4181 |
T6129 |
T6126 |
amod |
vivo,demonstration |
R4182 |
T6130 |
T6126 |
prep |
in,demonstration |
R4183 |
T6131 |
T6132 |
nmod |
compound,animals |
R4184 |
T6132 |
T6130 |
pobj |
animals,in |
R4185 |
T6133 |
T6132 |
amod |
heterozygous,animals |
R4186 |
T6134 |
T6132 |
prep |
of,animals |
R4187 |
T6135 |
T6136 |
amod |
interallelic,complementation |
R4188 |
T6136 |
T6134 |
pobj |
complementation,of |
R4189 |
T6137 |
T6126 |
amod |
relevant,demonstration |
R419 |
T749 |
T747 |
pobj |
clinic,in |
R4190 |
T6138 |
T6137 |
prep |
to,relevant |
R4191 |
T6139 |
T6140 |
det |
a,disease |
R4192 |
T6140 |
T6138 |
pobj |
disease,to |
R4193 |
T6141 |
T6140 |
amod |
human,disease |
R4194 |
T6142 |
T6109 |
punct |
.,is |
R4195 |
T6144 |
T6145 |
advcl |
Keeping,is |
R4196 |
T6146 |
T6144 |
prep |
in,Keeping |
R4197 |
T6147 |
T6146 |
pobj |
mind,in |
R4198 |
T6148 |
T6149 |
mark |
that,result |
R4199 |
T6149 |
T6144 |
ccomp |
result,Keeping |
R420 |
T750 |
T743 |
punct |
", ",caused |
R4200 |
T6150 |
T6151 |
det |
the,alleles |
R4201 |
T6151 |
T6149 |
nsubj |
alleles,result |
R4202 |
T6152 |
T6153 |
punct |
~,"1,200" |
R4203 |
T6153 |
T6151 |
nummod |
"1,200",alleles |
R4204 |
T6154 |
T6151 |
acl |
known,alleles |
R4205 |
T6155 |
T6156 |
aux |
to,exist |
R4206 |
T6156 |
T6154 |
xcomp |
exist,known |
R4207 |
T6157 |
T6156 |
prep |
for,exist |
R4208 |
T6158 |
T6159 |
det |
the,gene |
R4209 |
T6159 |
T6157 |
pobj |
gene,for |
R421 |
T751 |
T752 |
det |
the,lack |
R4210 |
T6160 |
T6159 |
compound |
CTRF,gene |
R4211 |
T6161 |
T6159 |
acl |
implicated,gene |
R4212 |
T6162 |
T6161 |
prep |
in,implicated |
R4213 |
T6163 |
T6164 |
det |
the,disorder |
R4214 |
T6164 |
T6162 |
pobj |
disorder,in |
R4215 |
T6165 |
T6164 |
amod |
common,disorder |
R4216 |
T6166 |
T6164 |
amod |
autosomal,disorder |
R4217 |
T6167 |
T6164 |
amod |
recessive,disorder |
R4218 |
T6168 |
T6169 |
amod |
cystic,fibrosis |
R4219 |
T6169 |
T6164 |
appos |
fibrosis,disorder |
R422 |
T752 |
T743 |
nsubjpass |
lack,caused |
R4220 |
T6170 |
T6161 |
advmod |
alone,implicated |
R4221 |
T6171 |
T6172 |
punct |
[,29 |
R4222 |
T6172 |
T6154 |
parataxis |
29,known |
R4223 |
T6173 |
T6172 |
punct |
],29 |
R4224 |
T6174 |
T6149 |
aux |
can,result |
R4225 |
T6175 |
T6149 |
advmod |
theoretically,result |
R4226 |
T6176 |
T6149 |
prep |
in,result |
R4227 |
T6177 |
T6178 |
punct |
~,"700,000" |
R4228 |
T6178 |
T6179 |
nummod |
"700,000",combinations |
R4229 |
T6179 |
T6176 |
pobj |
combinations,in |
R423 |
T753 |
T752 |
prep |
of,lack |
R4230 |
T6180 |
T6179 |
amod |
different,combinations |
R4231 |
T6181 |
T6179 |
amod |
allelic,combinations |
R4232 |
T6182 |
T6145 |
punct |
", ",is |
R4233 |
T6183 |
T6184 |
det |
the,number |
R4234 |
T6184 |
T6145 |
nsubj |
number,is |
R4235 |
T6185 |
T6184 |
amod |
potential,number |
R4236 |
T6186 |
T6184 |
prep |
of,number |
R4237 |
T6187 |
T6188 |
amod |
allelic,combinations |
R4238 |
T6188 |
T6186 |
pobj |
combinations,of |
R4239 |
T6189 |
T6188 |
prep |
of,combinations |
R424 |
T754 |
T753 |
pobj |
evidence,of |
R4240 |
T6190 |
T6191 |
amod |
different,mutations |
R4241 |
T6191 |
T6189 |
pobj |
mutations,of |
R4242 |
T6192 |
T6191 |
amod |
recessive,mutations |
R4243 |
T6193 |
T6191 |
cc |
and,mutations |
R4244 |
T6194 |
T6195 |
amod |
single,polymorphisms |
R4245 |
T6195 |
T6191 |
conj |
polymorphisms,mutations |
R4246 |
T6196 |
T6195 |
compound |
nucleotide,polymorphisms |
R4247 |
T6197 |
T6198 |
npadvmod |
genome,wide |
R4248 |
T6198 |
T6184 |
amod |
wide,number |
R4249 |
T6199 |
T6198 |
punct |
-,wide |
R425 |
T755 |
T754 |
prep |
concerning,evidence |
R4250 |
T6200 |
T6145 |
advmod |
currently,is |
R4251 |
T6201 |
T6145 |
acomp |
incalculable,is |
R4252 |
T6202 |
T6145 |
punct |
.,is |
R4253 |
T6204 |
T6205 |
nsubj |
We,suggest |
R4254 |
T6206 |
T6207 |
amod |
biallelic,effects |
R4255 |
T6207 |
T6205 |
dobj |
effects,suggest |
R4256 |
T6208 |
T6205 |
prep |
as,suggest |
R4257 |
T6209 |
T6210 |
det |
a,variable |
R4258 |
T6210 |
T6208 |
pobj |
variable,as |
R4259 |
T6211 |
T6212 |
advmod |
previously,underestimated |
R426 |
T756 |
T757 |
amod |
interallelic,complementation |
R4260 |
T6212 |
T6213 |
amod |
underestimated,important |
R4261 |
T6213 |
T6210 |
amod |
important,variable |
R4262 |
T6214 |
T6213 |
advmod |
yet,important |
R4263 |
T6215 |
T6205 |
prep |
in,suggest |
R4264 |
T6216 |
T6215 |
pcomp |
considering,in |
R4265 |
T6217 |
T6218 |
compound |
genotype,phenotype |
R4266 |
T6218 |
T6220 |
compound |
phenotype,relationships |
R4267 |
T6219 |
T6218 |
punct |
–,phenotype |
R4268 |
T6220 |
T6216 |
dobj |
relationships,considering |
R4269 |
T6221 |
T6216 |
prep |
from,considering |
R427 |
T757 |
T755 |
pobj |
complementation,concerning |
R4270 |
T6222 |
T6223 |
amod |
autosomal,disease |
R4271 |
T6223 |
T6221 |
pobj |
disease,from |
R4272 |
T6224 |
T6223 |
amod |
recessive,disease |
R4273 |
T6225 |
T6221 |
prep |
to,from |
R4274 |
T6226 |
T6227 |
amod |
normal,diversity |
R4275 |
T6227 |
T6225 |
pobj |
diversity,to |
R4276 |
T6228 |
T6227 |
amod |
phenotypic,diversity |
R4277 |
T6229 |
T6216 |
prep |
in,considering |
R4278 |
T6230 |
T6229 |
pobj |
mammals,in |
R4279 |
T6231 |
T6205 |
punct |
.,suggest |
R428 |
T758 |
T757 |
cc |
or,complementation |
R4280 |
T6233 |
T6234 |
nsubj |
Extension,implies |
R4281 |
T6235 |
T6233 |
prep |
of,Extension |
R4282 |
T6236 |
T6237 |
det |
the,concept |
R4283 |
T6237 |
T6235 |
pobj |
concept,of |
R4284 |
T6238 |
T6237 |
amod |
above,concept |
R4285 |
T6239 |
T6240 |
mark |
that,enter |
R4286 |
T6240 |
T6234 |
ccomp |
enter,implies |
R4287 |
T6241 |
T6242 |
amod |
recessive,mutations |
R4288 |
T6242 |
T6240 |
nsubj |
mutations,enter |
R4289 |
T6243 |
T6240 |
aux |
can,enter |
R429 |
T759 |
T760 |
amod |
other,effects |
R4290 |
T6244 |
T6245 |
amod |
evolutionary,selection |
R4291 |
T6245 |
T6240 |
dobj |
selection,enter |
R4292 |
T6246 |
T6240 |
prep |
in,enter |
R4293 |
T6247 |
T6246 |
pobj |
F1,in |
R4294 |
T6248 |
T6240 |
prep |
provided,enter |
R4295 |
T6249 |
T6250 |
mark |
that,carries |
R4296 |
T6250 |
T6248 |
pcomp |
carries,provided |
R4297 |
T6251 |
T6252 |
det |
the,allele |
R4298 |
T6252 |
T6250 |
nsubj |
allele,carries |
R4299 |
T6253 |
T6252 |
amod |
second,allele |
R430 |
T760 |
T757 |
conj |
effects,complementation |
R4300 |
T6254 |
T6255 |
det |
a,alteration |
R4301 |
T6255 |
T6250 |
dobj |
alteration,carries |
R4302 |
T6256 |
T6255 |
amod |
different,alteration |
R4303 |
T6257 |
T6255 |
amod |
recessive,alteration |
R4304 |
T6258 |
T6234 |
punct |
.,implies |
R4305 |
T6260 |
T6261 |
advmod |
Finally,highlight |
R4306 |
T6262 |
T6261 |
punct |
", ",highlight |
R4307 |
T6263 |
T6264 |
poss |
our,data |
R4308 |
T6264 |
T6261 |
nsubj |
data,highlight |
R4309 |
T6265 |
T6266 |
det |
the,potential |
R431 |
T761 |
T760 |
amod |
biallelic,effects |
R4310 |
T6266 |
T6261 |
dobj |
potential,highlight |
R4311 |
T6267 |
T6266 |
prep |
of,potential |
R4312 |
T6268 |
T6269 |
advmod |
clinically,relevant |
R4313 |
T6269 |
T6270 |
amod |
relevant,alleles |
R4314 |
T6270 |
T6267 |
pobj |
alleles,of |
R4315 |
T6271 |
T6272 |
advmod |
previously,designated |
R4316 |
T6272 |
T6270 |
acl |
designated,alleles |
R4317 |
T6273 |
T6272 |
prep |
as,designated |
R4318 |
T6274 |
T6273 |
amod |
null,as |
R4319 |
T6275 |
T6270 |
punct |
", ",alleles |
R432 |
T762 |
T757 |
prep |
in,complementation |
R4320 |
T6276 |
T6270 |
prep |
with,alleles |
R4321 |
T6277 |
T6278 |
amod |
little,expression |
R4322 |
T6278 |
T6276 |
pobj |
expression,with |
R4323 |
T6279 |
T6277 |
cc |
or,little |
R4324 |
T6280 |
T6277 |
conj |
no,little |
R4325 |
T6281 |
T6278 |
amod |
detectable,expression |
R4326 |
T6282 |
T6278 |
cc |
or,expression |
R4327 |
T6283 |
T6278 |
conj |
activity,expression |
R4328 |
T6284 |
T6266 |
punct |
", ",potential |
R4329 |
T6285 |
T6286 |
aux |
to,contribute |
R433 |
T763 |
T764 |
amod |
human,disease |
R4330 |
T6286 |
T6266 |
acl |
contribute,potential |
R4331 |
T6287 |
T6286 |
advmod |
nonetheless,contribute |
R4332 |
T6288 |
T6286 |
prep |
to,contribute |
R4333 |
T6289 |
T6288 |
pobj |
phenotype,to |
R4334 |
T6290 |
T6261 |
punct |
.,highlight |
R4335 |
T6365 |
T6364 |
cc |
and,Derivation |
R4336 |
T6366 |
T6364 |
conj |
analysis,Derivation |
R4337 |
T6367 |
T6364 |
prep |
of,Derivation |
R4338 |
T6368 |
T6369 |
amod |
mutant,mice |
R4339 |
T6369 |
T6367 |
pobj |
mice,of |
R434 |
T764 |
T762 |
pobj |
disease,in |
R4340 |
T6370 |
T6364 |
punct |
.,Derivation |
R4341 |
T6372 |
T6373 |
nsubjpass |
Generation,described |
R4342 |
T6374 |
T6372 |
prep |
of,Generation |
R4343 |
T6375 |
T6376 |
nmod |
XpdTTD,mice |
R4344 |
T6376 |
T6374 |
pobj |
mice,of |
R4345 |
T6377 |
T6378 |
punct |
(,XPDR722W |
R4346 |
T6378 |
T6375 |
parataxis |
XPDR722W,XpdTTD |
R4347 |
T6379 |
T6378 |
punct |
),XPDR722W |
R4348 |
T6380 |
T6375 |
cc |
and,XpdTTD |
R4349 |
T6381 |
T6382 |
compound |
XpdTTD,KO |
R435 |
T765 |
T743 |
auxpass |
is,caused |
R4350 |
T6382 |
T6375 |
conj |
KO,XpdTTD |
R4351 |
T6383 |
T6382 |
punct |
/,KO |
R4352 |
T6384 |
T6373 |
aux |
has,described |
R4353 |
T6385 |
T6373 |
auxpass |
been,described |
R4354 |
T6386 |
T6373 |
advmod |
previously,described |
R4355 |
T6387 |
T6388 |
punct |
[,22 |
R4356 |
T6388 |
T6373 |
parataxis |
22,described |
R4357 |
T6389 |
T6388 |
nummod |
21,22 |
R4358 |
T6390 |
T6388 |
punct |
",",22 |
R4359 |
T6391 |
T6388 |
punct |
],22 |
R436 |
T766 |
T743 |
advmod |
likely,caused |
R4360 |
T6392 |
T6373 |
punct |
.,described |
R4361 |
T6394 |
T6395 |
det |
A,description |
R4362 |
T6395 |
T6397 |
nsubjpass |
description,provided |
R4363 |
T6396 |
T6395 |
amod |
detailed,description |
R4364 |
T6398 |
T6395 |
prep |
of,description |
R4365 |
T6399 |
T6400 |
det |
the,generation |
R4366 |
T6400 |
T6398 |
pobj |
generation,of |
R4367 |
T6401 |
T6400 |
prep |
of,generation |
R4368 |
T6402 |
T6403 |
amod |
targeting,constructs |
R4369 |
T6403 |
T6401 |
pobj |
constructs,of |
R437 |
T767 |
T743 |
agent |
by,caused |
R4370 |
T6404 |
T6403 |
prep |
for,constructs |
R4371 |
T6405 |
T6406 |
nmod |
Xpd†XPCS,alleles |
R4372 |
T6406 |
T6404 |
pobj |
alleles,for |
R4373 |
T6407 |
T6405 |
cc |
and,Xpd†XPCS |
R4374 |
T6408 |
T6405 |
conj |
Xpd †XP,Xpd†XPCS |
R4375 |
T6409 |
T6406 |
acl |
carrying,alleles |
R4376 |
T6410 |
T6409 |
dobj |
mutations,carrying |
R4377 |
T6411 |
T6410 |
acl |
encoding,mutations |
R4378 |
T6412 |
T6413 |
det |
the,alterations |
R4379 |
T6413 |
T6411 |
dobj |
alterations,encoding |
R438 |
T768 |
T769 |
det |
the,difficulty |
R4380 |
T6414 |
T6413 |
nmod |
G602D,alterations |
R4381 |
T6415 |
T6414 |
cc |
and,G602D |
R4382 |
T6416 |
T6414 |
conj |
R683W,G602D |
R4383 |
T6417 |
T6397 |
aux |
will,provided |
R4384 |
T6418 |
T6397 |
auxpass |
be,provided |
R4385 |
T6419 |
T6397 |
prep |
upon,provided |
R4386 |
T6420 |
T6419 |
pobj |
request,upon |
R4387 |
T6421 |
T6397 |
punct |
.,provided |
R4388 |
T6423 |
T6424 |
amod |
Chimeric,fibroblasts |
R4389 |
T6424 |
T6429 |
nsubjpass |
fibroblasts,generated |
R439 |
T769 |
T767 |
pobj |
difficulty,by |
R4390 |
T6425 |
T6424 |
nmod |
mice,fibroblasts |
R4391 |
T6426 |
T6425 |
cc |
and,mice |
R4392 |
T6427 |
T6428 |
npadvmod |
mouse,embryonic |
R4393 |
T6428 |
T6425 |
conj |
embryonic,mice |
R4394 |
T6430 |
T6429 |
auxpass |
were,generated |
R4395 |
T6431 |
T6429 |
prep |
according,generated |
R4396 |
T6432 |
T6431 |
prep |
to,according |
R4397 |
T6433 |
T6434 |
amod |
standard,procedures |
R4398 |
T6434 |
T6432 |
pobj |
procedures,to |
R4399 |
T6435 |
T6429 |
punct |
.,generated |
R440 |
T770 |
T769 |
prep |
in,difficulty |
R4400 |
T6437 |
T6438 |
nmod |
Haematoxylin,staining |
R4401 |
T6438 |
T6441 |
nsubjpass |
staining,performed |
R4402 |
T6439 |
T6437 |
cc |
and,Haematoxylin |
R4403 |
T6440 |
T6437 |
conj |
eosin,Haematoxylin |
R4404 |
T6442 |
T6441 |
auxpass |
was,performed |
R4405 |
T6443 |
T6441 |
prep |
according,performed |
R4406 |
T6444 |
T6443 |
prep |
to,according |
R4407 |
T6445 |
T6446 |
amod |
standard,procedures |
R4408 |
T6446 |
T6444 |
pobj |
procedures,to |
R4409 |
T6447 |
T6441 |
punct |
.,performed |
R441 |
T771 |
T770 |
pcomp |
distinguishing,in |
R4410 |
T6449 |
T6450 |
compound |
Amino,acid |
R4411 |
T6450 |
T6451 |
compound |
acid,analysis |
R4412 |
T6451 |
T6452 |
nsubjpass |
analysis,conducted |
R4413 |
T6453 |
T6452 |
auxpass |
was,conducted |
R4414 |
T6454 |
T6455 |
mark |
as,described |
R4415 |
T6455 |
T6452 |
advcl |
described,conducted |
R4416 |
T6456 |
T6455 |
prep |
in,described |
R4417 |
T6457 |
T6456 |
punct |
[,in |
R4418 |
T6458 |
T6456 |
pobj |
21,in |
R4419 |
T6459 |
T6452 |
punct |
],conducted |
R442 |
T772 |
T773 |
amod |
such,effects |
R4420 |
T6460 |
T6452 |
punct |
.,conducted |
R4421 |
T6462 |
T6463 |
compound |
Blood,values |
R4422 |
T6463 |
T6464 |
nsubjpass |
values,analysed |
R4423 |
T6465 |
T6464 |
auxpass |
were,analysed |
R4424 |
T6466 |
T6464 |
advcl |
using,analysed |
R4425 |
T6467 |
T6468 |
nmod |
Animal,Vet |
R4426 |
T6468 |
T6466 |
dobj |
Vet,using |
R4427 |
T6469 |
T6468 |
nmod |
Blood,Vet |
R4428 |
T6470 |
T6468 |
amod |
Counter,Vet |
R4429 |
T6471 |
T6472 |
punct |
(,Diagnostix |
R443 |
T773 |
T771 |
dobj |
effects,distinguishing |
R4430 |
T6472 |
T6468 |
parataxis |
Diagnostix,Vet |
R4431 |
T6473 |
T6472 |
compound |
ABX,Diagnostix |
R4432 |
T6474 |
T6472 |
punct |
", ",Diagnostix |
R4433 |
T6475 |
T6472 |
npadvmod |
Montpellier,Diagnostix |
R4434 |
T6476 |
T6472 |
punct |
", ",Diagnostix |
R4435 |
T6477 |
T6472 |
npadvmod |
France,Diagnostix |
R4436 |
T6478 |
T6472 |
punct |
),Diagnostix |
R4437 |
T6479 |
T6464 |
punct |
.,analysed |
R4438 |
T6481 |
T6482 |
nsubjpass |
Radiographs,taken |
R4439 |
T6483 |
T6482 |
auxpass |
were,taken |
R444 |
T774 |
T771 |
prep |
from,distinguishing |
R4440 |
T6484 |
T6482 |
punct |
", ",taken |
R4441 |
T6485 |
T6482 |
cc |
and,taken |
R4442 |
T6486 |
T6487 |
amod |
relative,density |
R4443 |
T6487 |
T6490 |
nsubjpass |
density,calculated |
R4444 |
T6488 |
T6489 |
compound |
bone,mineral |
R4445 |
T6489 |
T6487 |
compound |
mineral,density |
R4446 |
T6490 |
T6482 |
conj |
calculated,taken |
R4447 |
T6491 |
T6490 |
auxpass |
was,calculated |
R4448 |
T6492 |
T6493 |
mark |
as,described |
R4449 |
T6493 |
T6490 |
advcl |
described,calculated |
R445 |
T775 |
T774 |
pobj |
environment,from |
R4450 |
T6494 |
T6493 |
prep |
in,described |
R4451 |
T6495 |
T6494 |
punct |
[,in |
R4452 |
T6496 |
T6494 |
pobj |
15,in |
R4453 |
T6497 |
T6490 |
punct |
],calculated |
R4454 |
T6498 |
T6490 |
punct |
.,calculated |
R4455 |
T6500 |
T6501 |
nsubj |
Mice,were |
R4456 |
T6502 |
T6500 |
acl |
used,Mice |
R4457 |
T6503 |
T6502 |
prep |
in,used |
R4458 |
T6504 |
T6505 |
det |
this,study |
R4459 |
T6505 |
T6503 |
pobj |
study,in |
R446 |
T776 |
T775 |
cc |
and,environment |
R4460 |
T6506 |
T6501 |
prep |
in,were |
R4461 |
T6507 |
T6508 |
det |
a,background |
R4462 |
T6508 |
T6506 |
pobj |
background,in |
R4463 |
T6509 |
T6510 |
nmod |
129Ola,C57BL6 |
R4464 |
T6510 |
T6508 |
nmod |
C57BL6,background |
R4465 |
T6511 |
T6510 |
punct |
/,C57BL6 |
R4466 |
T6512 |
T6508 |
amod |
mixed,background |
R4467 |
T6513 |
T6514 |
mark |
unless,noted |
R4468 |
T6514 |
T6501 |
advcl |
noted,were |
R4469 |
T6515 |
T6514 |
advmod |
differently,noted |
R447 |
T777 |
T778 |
amod |
genetic,background |
R4470 |
T6516 |
T6501 |
punct |
.,were |
R4471 |
T6518 |
T6519 |
det |
All,experiments |
R4472 |
T6519 |
T6520 |
nsubjpass |
experiments,judged |
R4473 |
T6521 |
T6519 |
acl |
involving,experiments |
R4474 |
T6522 |
T6521 |
dobj |
mice,involving |
R4475 |
T6523 |
T6520 |
auxpass |
were,judged |
R4476 |
T6524 |
T6520 |
cc |
and,judged |
R4477 |
T6525 |
T6520 |
conj |
approved,judged |
R4478 |
T6526 |
T6525 |
agent |
by,approved |
R4479 |
T6527 |
T6528 |
det |
the,committee |
R448 |
T778 |
T775 |
conj |
background,environment |
R4480 |
T6528 |
T6526 |
pobj |
committee,by |
R4481 |
T6529 |
T6528 |
amod |
national,committee |
R4482 |
T6530 |
T6528 |
prep |
for,committee |
R4483 |
T6531 |
T6532 |
amod |
genetic,identification |
R4484 |
T6532 |
T6530 |
pobj |
identification,for |
R4485 |
T6533 |
T6532 |
prep |
of,identification |
R4486 |
T6534 |
T6533 |
pobj |
organisms,of |
R4487 |
T6535 |
T6528 |
cc |
and,committee |
R4488 |
T6536 |
T6537 |
det |
the,committee |
R4489 |
T6537 |
T6528 |
conj |
committee,committee |
R449 |
T779 |
T743 |
punct |
.,caused |
R4490 |
T6538 |
T6537 |
nmod |
animal,committee |
R4491 |
T6539 |
T6537 |
amod |
ethical,committee |
R4492 |
T6540 |
T6520 |
punct |
", ",judged |
R4493 |
T6541 |
T6520 |
cc |
and,judged |
R4494 |
T6542 |
T6543 |
auxpass |
were,conducted |
R4495 |
T6543 |
T6520 |
conj |
conducted,judged |
R4496 |
T6544 |
T6543 |
prep |
according,conducted |
R4497 |
T6545 |
T6544 |
prep |
to,according |
R4498 |
T6546 |
T6547 |
amod |
national,guidelines |
R4499 |
T6547 |
T6545 |
pobj |
guidelines,to |
R450 |
T781 |
T782 |
nsubj |
XPD,encodes |
R4500 |
T6548 |
T6546 |
cc |
and,national |
R4501 |
T6549 |
T6546 |
conj |
international,national |
R4502 |
T6550 |
T6520 |
punct |
.,judged |
R4503 |
T6587 |
T6588 |
compound |
UV,sensitivity |
R4504 |
T6589 |
T6588 |
punct |
", ",sensitivity |
R4505 |
T6590 |
T6591 |
nmod |
UV,UDS |
R4506 |
T6591 |
T6593 |
nmod |
UDS,activity |
R4507 |
T6592 |
T6591 |
punct |
-,UDS |
R4508 |
T6593 |
T6588 |
appos |
activity,sensitivity |
R4509 |
T6594 |
T6591 |
punct |
", ",UDS |
R451 |
T783 |
T782 |
dobj |
one,encodes |
R4510 |
T6595 |
T6596 |
compound |
UV,RRS |
R4511 |
T6596 |
T6591 |
conj |
RRS,UDS |
R4512 |
T6597 |
T6596 |
punct |
-,RRS |
R4513 |
T6598 |
T6596 |
punct |
", ",RRS |
R4514 |
T6599 |
T6596 |
cc |
and,RRS |
R4515 |
T6600 |
T6596 |
conj |
TFIIH,RRS |
R4516 |
T6601 |
T6602 |
compound |
incision,excision |
R4517 |
T6602 |
T6593 |
compound |
excision,activity |
R4518 |
T6603 |
T6602 |
punct |
/,excision |
R4519 |
T6604 |
T6588 |
punct |
.,sensitivity |
R452 |
T784 |
T783 |
prep |
of,one |
R4520 |
T6606 |
T6607 |
nmod |
UV,survival |
R4521 |
T6607 |
T6608 |
nmod |
survival,assays |
R4522 |
T6608 |
T6618 |
nsubjpass |
assays,performed |
R4523 |
T6609 |
T6607 |
punct |
", ",survival |
R4524 |
T6610 |
T6611 |
compound |
UV,UDS |
R4525 |
T6611 |
T6607 |
conj |
UDS,survival |
R4526 |
T6612 |
T6611 |
punct |
-,UDS |
R4527 |
T6613 |
T6611 |
punct |
", ",UDS |
R4528 |
T6614 |
T6611 |
cc |
and,UDS |
R4529 |
T6615 |
T6616 |
compound |
UV,RRS |
R453 |
T785 |
T786 |
det |
the,components |
R4530 |
T6616 |
T6611 |
conj |
RRS,UDS |
R4531 |
T6617 |
T6616 |
punct |
-,RRS |
R4532 |
T6619 |
T6618 |
auxpass |
were,performed |
R4533 |
T6620 |
T6621 |
mark |
as,described |
R4534 |
T6621 |
T6618 |
advcl |
described,performed |
R4535 |
T6622 |
T6621 |
advmod |
previously,described |
R4536 |
T6623 |
T6624 |
punct |
[,30 |
R4537 |
T6624 |
T6618 |
parataxis |
30,performed |
R4538 |
T6625 |
T6624 |
nummod |
21,30 |
R4539 |
T6626 |
T6624 |
punct |
",",30 |
R454 |
T786 |
T784 |
pobj |
components,of |
R4540 |
T6627 |
T6624 |
punct |
],30 |
R4541 |
T6628 |
T6618 |
punct |
.,performed |
R4542 |
T6630 |
T6631 |
prep |
For,presented |
R4543 |
T6632 |
T6633 |
compound |
UV,RRS |
R4544 |
T6633 |
T6630 |
pobj |
RRS,For |
R4545 |
T6634 |
T6633 |
punct |
-,RRS |
R4546 |
T6635 |
T6631 |
punct |
", ",presented |
R4547 |
T6636 |
T6637 |
amod |
average,values |
R4548 |
T6637 |
T6631 |
nsubjpass |
values,presented |
R4549 |
T6638 |
T6637 |
prep |
from,values |
R455 |
T787 |
T786 |
nummod |
two,components |
R4550 |
T6639 |
T6640 |
det |
the,experiment |
R4551 |
T6640 |
T6638 |
pobj |
experiment,from |
R4552 |
T6641 |
T6640 |
amod |
representative,experiment |
R4553 |
T6642 |
T6640 |
acl |
containing,experiment |
R4554 |
T6643 |
T6644 |
nummod |
two,wt |
R4555 |
T6644 |
T6645 |
nmod |
wt,line |
R4556 |
T6645 |
T6642 |
dobj |
line,containing |
R4557 |
T6646 |
T6644 |
punct |
", ",wt |
R4558 |
T6647 |
T6648 |
nummod |
three,TTD |
R4559 |
T6648 |
T6644 |
conj |
TTD,wt |
R456 |
T788 |
T786 |
compound |
helicase,components |
R4560 |
T6649 |
T6648 |
compound |
XpdTTD,TTD |
R4561 |
T6650 |
T6648 |
punct |
/,TTD |
R4562 |
T6651 |
T6648 |
punct |
", ",TTD |
R4563 |
T6652 |
T6653 |
nummod |
two,XPCS |
R4564 |
T6653 |
T6648 |
conj |
XPCS,TTD |
R4565 |
T6654 |
T6653 |
compound |
XpdTTD,XPCS |
R4566 |
T6655 |
T6653 |
punct |
/,XPCS |
R4567 |
T6656 |
T6653 |
punct |
", ",XPCS |
R4568 |
T6657 |
T6653 |
cc |
and,XPCS |
R4569 |
T6658 |
T6659 |
nummod |
one,XP |
R457 |
T789 |
T786 |
prep |
of,components |
R4570 |
T6659 |
T6653 |
conj |
XP,XPCS |
R4571 |
T6660 |
T6659 |
compound |
XpdTTD,XP |
R4572 |
T6661 |
T6659 |
punct |
/,XP |
R4573 |
T6662 |
T6645 |
compound |
cell,line |
R4574 |
T6663 |
T6631 |
auxpass |
are,presented |
R4575 |
T6664 |
T6631 |
punct |
.,presented |
R4576 |
T6666 |
T6667 |
det |
The,value |
R4577 |
T6667 |
T6674 |
nsubj |
value,differs |
R4578 |
T6668 |
T6669 |
punct |
~,48 |
R4579 |
T6669 |
T6670 |
nummod |
48,% |
R458 |
T790 |
T791 |
amod |
basal,IIH |
R4580 |
T6670 |
T6667 |
compound |
%,value |
R4581 |
T6671 |
T6672 |
compound |
UV,UDS |
R4582 |
T6672 |
T6667 |
compound |
UDS,value |
R4583 |
T6673 |
T6672 |
punct |
-,UDS |
R4584 |
T6675 |
T6667 |
acl |
presented,value |
R4585 |
T6676 |
T6675 |
prep |
in,presented |
R4586 |
T6677 |
T6678 |
det |
this,study |
R4587 |
T6678 |
T6676 |
pobj |
study,in |
R4588 |
T6679 |
T6667 |
prep |
for,value |
R4589 |
T6680 |
T6681 |
compound |
XpdTTD,TTD |
R459 |
T791 |
T789 |
pobj |
IIH,of |
R4590 |
T6681 |
T6683 |
compound |
TTD,cells |
R4591 |
T6682 |
T6681 |
punct |
/,TTD |
R4592 |
T6683 |
T6679 |
pobj |
cells,for |
R4593 |
T6684 |
T6674 |
prep |
from,differs |
R4594 |
T6685 |
T6686 |
poss |
our,data |
R4595 |
T6686 |
T6684 |
pobj |
data,from |
R4596 |
T6687 |
T6688 |
advmod |
previously,published |
R4597 |
T6688 |
T6686 |
amod |
published,data |
R4598 |
T6689 |
T6686 |
prep |
of,data |
R4599 |
T6690 |
T6691 |
nummod |
25,% |
R460 |
T792 |
T791 |
nmod |
transcription,IIH |
R4600 |
T6691 |
T6692 |
compound |
%,UDS |
R4601 |
T6692 |
T6689 |
pobj |
UDS,of |
R4602 |
T6693 |
T6692 |
compound |
UV,UDS |
R4603 |
T6694 |
T6692 |
punct |
-,UDS |
R4604 |
T6695 |
T6696 |
punct |
[,21 |
R4605 |
T6696 |
T6674 |
parataxis |
21,differs |
R4606 |
T6697 |
T6696 |
punct |
],21 |
R4607 |
T6698 |
T6674 |
punct |
", ",differs |
R4608 |
T6699 |
T6700 |
advmod |
possibly,because |
R4609 |
T6700 |
T6674 |
prep |
because,differs |
R461 |
T793 |
T792 |
punct |
/,transcription |
R4610 |
T6701 |
T6700 |
prep |
of,because |
R4611 |
T6702 |
T6703 |
det |
the,variability |
R4612 |
T6703 |
T6701 |
pobj |
variability,of |
R4613 |
T6704 |
T6703 |
amod |
high,variability |
R4614 |
T6705 |
T6703 |
amod |
intrinsic,variability |
R4615 |
T6706 |
T6705 |
prep |
to,intrinsic |
R4616 |
T6707 |
T6708 |
det |
the,assay |
R4617 |
T6708 |
T6706 |
pobj |
assay,to |
R4618 |
T6709 |
T6708 |
cc |
or,assay |
R4619 |
T6710 |
T6711 |
amod |
routine,variations |
R462 |
T794 |
T795 |
compound |
DNA,repair |
R4620 |
T6711 |
T6708 |
conj |
variations,assay |
R4621 |
T6712 |
T6708 |
prep |
in,assay |
R4622 |
T6713 |
T6714 |
det |
the,conditions |
R4623 |
T6714 |
T6712 |
pobj |
conditions,in |
R4624 |
T6715 |
T6716 |
compound |
cell,culture |
R4625 |
T6716 |
T6714 |
compound |
culture,conditions |
R4626 |
T6717 |
T6674 |
punct |
.,differs |
R4627 |
T6719 |
T6720 |
prep |
For,prepared |
R4628 |
T6721 |
T6722 |
det |
the,assay |
R4629 |
T6722 |
T6719 |
pobj |
assay,For |
R463 |
T795 |
T792 |
appos |
repair,transcription |
R4630 |
T6723 |
T6724 |
compound |
incision,excision |
R4631 |
T6724 |
T6722 |
compound |
excision,assay |
R4632 |
T6725 |
T6724 |
punct |
/,excision |
R4633 |
T6726 |
T6722 |
compound |
activity,assay |
R4634 |
T6727 |
T6720 |
punct |
", ",prepared |
R4635 |
T6728 |
T6729 |
amod |
recombinant,TFIIH |
R4636 |
T6729 |
T6720 |
nsubjpass |
TFIIH,prepared |
R4637 |
T6730 |
T6720 |
auxpass |
was,prepared |
R4638 |
T6731 |
T6720 |
cc |
and,prepared |
R4639 |
T6732 |
T6720 |
conj |
assayed,prepared |
R464 |
T796 |
T791 |
compound |
factor,IIH |
R4640 |
T6733 |
T6734 |
mark |
as,described |
R4641 |
T6734 |
T6732 |
advcl |
described,assayed |
R4642 |
T6735 |
T6734 |
advmod |
previously,described |
R4643 |
T6736 |
T6737 |
punct |
[,27 |
R4644 |
T6737 |
T6732 |
parataxis |
27,assayed |
R4645 |
T6738 |
T6737 |
punct |
],27 |
R4646 |
T6739 |
T6720 |
punct |
.,prepared |
R4649 |
T6770 |
T6771 |
amod |
Comparative,immunofluorescence |
R465 |
T797 |
T791 |
punct |
(,IIH |
R4650 |
T6772 |
T6771 |
punct |
.,immunofluorescence |
R4651 |
T6774 |
T6775 |
compound |
Latex,labelling |
R4652 |
T6775 |
T6777 |
nsubjpass |
labelling,performed |
R4653 |
T6776 |
T6775 |
compound |
bead,labelling |
R4654 |
T6778 |
T6775 |
cc |
and,labelling |
R4655 |
T6779 |
T6780 |
amod |
comparative,analysis |
R4656 |
T6780 |
T6775 |
conj |
analysis,labelling |
R4657 |
T6781 |
T6780 |
compound |
immunofluorescence,analysis |
R4658 |
T6782 |
T6780 |
prep |
of,analysis |
R4659 |
T6783 |
T6784 |
det |
the,subunit |
R466 |
T798 |
T791 |
appos |
TFIIH,IIH |
R4660 |
T6784 |
T6782 |
pobj |
subunit,of |
R4661 |
T6785 |
T6784 |
compound |
p62,subunit |
R4662 |
T6786 |
T6784 |
prep |
of,subunit |
R4663 |
T6787 |
T6788 |
det |
the,TFIIH |
R4664 |
T6788 |
T6786 |
pobj |
TFIIH,of |
R4665 |
T6789 |
T6777 |
auxpass |
was,performed |
R4666 |
T6790 |
T6791 |
mark |
as,described |
R4667 |
T6791 |
T6777 |
advcl |
described,performed |
R4668 |
T6792 |
T6791 |
advmod |
previously,described |
R4669 |
T6793 |
T6794 |
punct |
[,17 |
R467 |
T799 |
T783 |
punct |
),one |
R4670 |
T6794 |
T6791 |
parataxis |
17,described |
R4671 |
T6795 |
T6794 |
nummod |
16,17 |
R4672 |
T6796 |
T6794 |
punct |
",",17 |
R4673 |
T6797 |
T6794 |
punct |
],17 |
R4674 |
T6798 |
T6777 |
advcl |
using,performed |
R4675 |
T6799 |
T6800 |
amod |
primary,fibroblasts |
R4676 |
T6800 |
T6798 |
dobj |
fibroblasts,using |
R4677 |
T6801 |
T6800 |
nmod |
mouse,fibroblasts |
R4678 |
T6802 |
T6800 |
amod |
embryonic,fibroblasts |
R4679 |
T6803 |
T6798 |
prep |
at,using |
R468 |
T800 |
T783 |
punct |
", ",one |
R4680 |
T6804 |
T6805 |
nmod |
passages,2 |
R4681 |
T6805 |
T6803 |
pobj |
2,at |
R4682 |
T6806 |
T6807 |
punct |
–,5 |
R4683 |
T6807 |
T6805 |
prep |
5,2 |
R4684 |
T6808 |
T6777 |
punct |
.,performed |
R4685 |
T6810 |
T6811 |
nummod |
Two,lines |
R4686 |
T6811 |
T6815 |
nsubjpass |
lines,used |
R4687 |
T6812 |
T6810 |
cc |
or,Two |
R4688 |
T6813 |
T6810 |
conj |
more,Two |
R4689 |
T6814 |
T6811 |
compound |
cell,lines |
R469 |
T801 |
T802 |
det |
a,complex |
R4690 |
T6816 |
T6811 |
prep |
per,lines |
R4691 |
T6817 |
T6816 |
pobj |
genotype,per |
R4692 |
T6818 |
T6819 |
punct |
(,except |
R4693 |
T6819 |
T6811 |
parataxis |
except,lines |
R4694 |
T6820 |
T6819 |
prep |
for,except |
R4695 |
T6821 |
T6822 |
det |
the,cells |
R4696 |
T6822 |
T6820 |
pobj |
cells,for |
R4697 |
T6823 |
T6824 |
compound |
XpdTTD,†XP |
R4698 |
T6824 |
T6822 |
compound |
†XP,cells |
R4699 |
T6825 |
T6824 |
punct |
/,†XP |
R470 |
T802 |
T783 |
appos |
complex,one |
R4700 |
T6826 |
T6822 |
punct |
", ",cells |
R4701 |
T6827 |
T6828 |
prep |
in,used |
R4702 |
T6828 |
T6822 |
relcl |
used,cells |
R4703 |
T6829 |
T6827 |
pobj |
which,in |
R4704 |
T6830 |
T6831 |
advmod |
only,line |
R4705 |
T6831 |
T6828 |
nsubjpass |
line,used |
R4706 |
T6832 |
T6831 |
nummod |
one,line |
R4707 |
T6833 |
T6831 |
compound |
cell,line |
R4708 |
T6834 |
T6828 |
auxpass |
was,used |
R4709 |
T6835 |
T6828 |
prep |
in,used |
R471 |
T803 |
T804 |
nummod |
ten,subunit |
R4710 |
T6836 |
T6837 |
amod |
repeated,experiments |
R4711 |
T6837 |
T6835 |
pobj |
experiments,in |
R4712 |
T6838 |
T6819 |
punct |
),except |
R4713 |
T6839 |
T6815 |
auxpass |
were,used |
R4714 |
T6840 |
T6815 |
punct |
", ",used |
R4715 |
T6841 |
T6815 |
cc |
and,used |
R4716 |
T6842 |
T6843 |
nsubjpass |
experiments,repeated |
R4717 |
T6843 |
T6815 |
conj |
repeated,used |
R4718 |
T6844 |
T6843 |
auxpass |
were,repeated |
R4719 |
T6845 |
T6846 |
compound |
2,6 |
R472 |
T804 |
T802 |
nmod |
subunit,complex |
R4720 |
T6846 |
T6848 |
nummod |
6,times |
R4721 |
T6847 |
T6846 |
punct |
–,6 |
R4722 |
T6848 |
T6843 |
dobj |
times,repeated |
R4723 |
T6849 |
T6848 |
prep |
per,times |
R4724 |
T6850 |
T6849 |
pobj |
genotype,per |
R4725 |
T6851 |
T6843 |
punct |
.,repeated |
R4726 |
T7096 |
T7095 |
prep |
of,Targeting |
R4727 |
T7097 |
T7098 |
det |
the,Gene |
R4728 |
T7098 |
T7096 |
pobj |
Gene,of |
R4729 |
T7099 |
T7098 |
compound |
Mouse,Gene |
R473 |
T805 |
T804 |
punct |
-,subunit |
R4730 |
T7100 |
T7098 |
compound |
Xpd,Gene |
R4731 |
T7102 |
T7103 |
punct |
(,A |
R4732 |
T7103 |
T7104 |
meta |
A,representation |
R4733 |
T7105 |
T7103 |
punct |
),A |
R4734 |
T7106 |
T7104 |
amod |
Schematic,representation |
R4735 |
T7107 |
T7104 |
prep |
of,representation |
R4736 |
T7108 |
T7109 |
det |
the,structure |
R4737 |
T7109 |
T7107 |
pobj |
structure,of |
R4738 |
T7110 |
T7109 |
amod |
genomic,structure |
R4739 |
T7111 |
T7104 |
cc |
and,representation |
R474 |
T806 |
T802 |
punct |
", ",complex |
R4740 |
T7112 |
T7113 |
amod |
partial,map |
R4741 |
T7113 |
T7104 |
conj |
map,representation |
R4742 |
T7114 |
T7113 |
compound |
restriction,map |
R4743 |
T7115 |
T7113 |
prep |
of,map |
R4744 |
T7116 |
T7117 |
det |
the,loci |
R4745 |
T7117 |
T7115 |
pobj |
loci,of |
R4746 |
T7118 |
T7117 |
nmod |
wt,loci |
R4747 |
T7119 |
T7118 |
cc |
and,wt |
R4748 |
T7120 |
T7118 |
conj |
targeted,wt |
R4749 |
T7121 |
T7117 |
compound |
mouse,loci |
R475 |
T807 |
T802 |
amod |
multifunctional,complex |
R4750 |
T7122 |
T7117 |
compound |
Xpd,loci |
R4751 |
T7123 |
T7113 |
punct |
.,map |
R4752 |
T7125 |
T7126 |
prep |
For,represented |
R4753 |
T7127 |
T7128 |
det |
the,allele |
R4754 |
T7128 |
T7125 |
pobj |
allele,For |
R4755 |
T7129 |
T7128 |
compound |
wt,allele |
R4756 |
T7130 |
T7128 |
compound |
Xpd,allele |
R4757 |
T7131 |
T7126 |
punct |
", ",represented |
R4758 |
T7132 |
T7133 |
amod |
shaded,boxes |
R4759 |
T7133 |
T7134 |
nsubj |
boxes,represent |
R476 |
T808 |
T809 |
dep |
that,is |
R4760 |
T7134 |
T7126 |
ccomp |
represent,represented |
R4761 |
T7135 |
T7136 |
amod |
coding,regions |
R4762 |
T7136 |
T7134 |
dobj |
regions,represent |
R4763 |
T7137 |
T7136 |
prep |
of,regions |
R4764 |
T7138 |
T7139 |
nmod |
exons,12 |
R4765 |
T7139 |
T7137 |
pobj |
12,of |
R4766 |
T7140 |
T7139 |
cc |
and,12 |
R4767 |
T7141 |
T7139 |
conj |
19,12 |
R4768 |
T7142 |
T7143 |
punct |
–,23 |
R4769 |
T7143 |
T7141 |
prep |
23,19 |
R477 |
T809 |
T802 |
relcl |
is,complex |
R4770 |
T7144 |
T7126 |
punct |
;,represented |
R4771 |
T7145 |
T7146 |
det |
the,UTR |
R4772 |
T7146 |
T7126 |
nsubjpass |
UTR,represented |
R4773 |
T7147 |
T7146 |
nummod |
3,UTR |
R4774 |
T7148 |
T7147 |
punct |
′,3 |
R4775 |
T7149 |
T7126 |
auxpass |
is,represented |
R4776 |
T7150 |
T7126 |
agent |
by,represented |
R4777 |
T7151 |
T7152 |
det |
an,box |
R4778 |
T7152 |
T7150 |
pobj |
box,by |
R4779 |
T7153 |
T7152 |
amod |
open,box |
R478 |
T810 |
T809 |
acomp |
essential,is |
R4780 |
T7154 |
T7126 |
punct |
.,represented |
R4781 |
T7156 |
T7157 |
nsubj |
TGA,indicates |
R4782 |
T7157 |
T7158 |
ccomp |
indicates,indicates |
R4783 |
T7159 |
T7160 |
det |
the,codon |
R4784 |
T7160 |
T7157 |
dobj |
codon,indicates |
R4785 |
T7161 |
T7160 |
amod |
translational,codon |
R4786 |
T7162 |
T7160 |
compound |
stop,codon |
R4787 |
T7163 |
T7158 |
punct |
;,indicates |
R4788 |
T7164 |
T7158 |
nsubj |
PolyA,indicates |
R4789 |
T7165 |
T7166 |
det |
the,signal |
R479 |
T811 |
T810 |
prep |
for,essential |
R4790 |
T7166 |
T7158 |
dobj |
signal,indicates |
R4791 |
T7167 |
T7166 |
compound |
polyadenylation,signal |
R4792 |
T7168 |
T7158 |
punct |
.,indicates |
R4793 |
T7170 |
T7171 |
prep |
For,indicated |
R4794 |
T7172 |
T7173 |
det |
the,allele |
R4795 |
T7173 |
T7170 |
pobj |
allele,For |
R4796 |
T7174 |
T7173 |
nmod |
XpdTTD,allele |
R4797 |
T7175 |
T7173 |
amod |
targeted,allele |
R4798 |
T7176 |
T7171 |
punct |
", ",indicated |
R4799 |
T7177 |
T7178 |
det |
the,fragment |
R480 |
T812 |
T813 |
amod |
multiple,processes |
R4800 |
T7178 |
T7171 |
nsubjpass |
fragment,indicated |
R4801 |
T7179 |
T7180 |
nummod |
194,pair |
R4802 |
T7180 |
T7178 |
nmod |
pair,fragment |
R4803 |
T7181 |
T7180 |
punct |
–,pair |
R4804 |
T7182 |
T7180 |
nmod |
base,pair |
R4805 |
T7183 |
T7180 |
punct |
(,pair |
R4806 |
T7184 |
T7180 |
appos |
bp,pair |
R4807 |
T7185 |
T7178 |
punct |
),fragment |
R4808 |
T7186 |
T7178 |
amod |
human,fragment |
R4809 |
T7187 |
T7178 |
compound |
XPD,fragment |
R481 |
T813 |
T811 |
pobj |
processes,for |
R4810 |
T7188 |
T7178 |
compound |
cDNA,fragment |
R4811 |
T7189 |
T7178 |
acl |
fused,fragment |
R4812 |
T7190 |
T7189 |
prep |
to,fused |
R4813 |
T7191 |
T7190 |
pobj |
exon,to |
R4814 |
T7192 |
T7191 |
nummod |
22,exon |
R4815 |
T7193 |
T7171 |
auxpass |
is,indicated |
R4816 |
T7194 |
T7171 |
prep |
as,indicated |
R4817 |
T7195 |
T7196 |
det |
a,box |
R4818 |
T7196 |
T7194 |
pobj |
box,as |
R4819 |
T7197 |
T7196 |
amod |
striped,box |
R482 |
T814 |
T813 |
punct |
", ",processes |
R4820 |
T7198 |
T7171 |
prep |
including,indicated |
R4821 |
T7199 |
T7200 |
det |
the,mutation |
R4822 |
T7200 |
T7198 |
pobj |
mutation,including |
R4823 |
T7201 |
T7200 |
nmod |
TTD,mutation |
R4824 |
T7202 |
T7203 |
punct |
(,R722W |
R4825 |
T7203 |
T7201 |
parataxis |
R722W,TTD |
R4826 |
T7204 |
T7203 |
punct |
),R722W |
R4827 |
T7205 |
T7200 |
acl |
indicated,mutation |
R4828 |
T7206 |
T7205 |
agent |
by,indicated |
R4829 |
T7207 |
T7208 |
det |
a,arrow |
R483 |
T815 |
T813 |
prep |
including,processes |
R4830 |
T7208 |
T7206 |
pobj |
arrow,by |
R4831 |
T7209 |
T7208 |
amod |
vertical,arrow |
R4832 |
T7210 |
T7171 |
punct |
.,indicated |
R4833 |
T7212 |
T7213 |
nmod |
Chicken,2 |
R4834 |
T7213 |
T7218 |
nsubjpass |
2,indicated |
R4835 |
T7214 |
T7215 |
nmod |
β,globin |
R4836 |
T7215 |
T7213 |
nmod |
globin,2 |
R4837 |
T7216 |
T7215 |
punct |
-,globin |
R4838 |
T7217 |
T7213 |
nmod |
exons,2 |
R4839 |
T7219 |
T7213 |
cc |
and,2 |
R484 |
T816 |
T817 |
amod |
basal,initiation |
R4840 |
T7220 |
T7213 |
conj |
3,2 |
R4841 |
T7221 |
T7213 |
prep |
including,2 |
R4842 |
T7222 |
T7223 |
det |
the,UTR |
R4843 |
T7223 |
T7221 |
pobj |
UTR,including |
R4844 |
T7224 |
T7223 |
nummod |
3,UTR |
R4845 |
T7225 |
T7224 |
punct |
′,3 |
R4846 |
T7226 |
T7218 |
auxpass |
are,indicated |
R4847 |
T7227 |
T7218 |
prep |
as,indicated |
R4848 |
T7228 |
T7229 |
amod |
black,boxes |
R4849 |
T7229 |
T7227 |
pobj |
boxes,as |
R485 |
T817 |
T815 |
pobj |
initiation,including |
R4850 |
T7230 |
T7229 |
prep |
with,boxes |
R4851 |
T7231 |
T7232 |
amod |
corresponding,numerals |
R4852 |
T7232 |
T7230 |
pobj |
numerals,with |
R4853 |
T7233 |
T7232 |
compound |
Roman,numerals |
R4854 |
T7234 |
T7232 |
acl |
followed,numerals |
R4855 |
T7235 |
T7234 |
agent |
by,followed |
R4856 |
T7236 |
T7237 |
det |
the,signal |
R4857 |
T7237 |
T7235 |
pobj |
signal,by |
R4858 |
T7238 |
T7239 |
compound |
β,globin |
R4859 |
T7239 |
T7237 |
compound |
globin,signal |
R486 |
T818 |
T817 |
compound |
transcription,initiation |
R4860 |
T7240 |
T7239 |
punct |
-,globin |
R4861 |
T7241 |
T7237 |
compound |
polyadenylation,signal |
R4862 |
T7242 |
T7243 |
punct |
(,PolyA* |
R4863 |
T7243 |
T7237 |
parataxis |
PolyA*,signal |
R4864 |
T7244 |
T7243 |
punct |
),PolyA* |
R4865 |
T7245 |
T7218 |
punct |
.,indicated |
R4866 |
T7247 |
T7248 |
prep |
For,indicate |
R4867 |
T7249 |
T7250 |
det |
the,alleles |
R4868 |
T7250 |
T7247 |
pobj |
alleles,For |
R4869 |
T7251 |
T7250 |
nmod |
Xpd†XP,alleles |
R487 |
T819 |
T817 |
cc |
and,initiation |
R4870 |
T7252 |
T7251 |
cc |
and,Xpd†XP |
R4871 |
T7253 |
T7251 |
conj |
Xpd†XPCS,Xpd†XP |
R4872 |
T7254 |
T7250 |
amod |
targeted,alleles |
R4873 |
T7255 |
T7248 |
punct |
", ",indicate |
R4874 |
T7256 |
T7257 |
amod |
vertical,arrows |
R4875 |
T7257 |
T7248 |
nsubj |
arrows,indicate |
R4876 |
T7258 |
T7259 |
nmod |
XPCS,mutations |
R4877 |
T7259 |
T7248 |
dobj |
mutations,indicate |
R4878 |
T7260 |
T7261 |
punct |
(,encoding |
R4879 |
T7261 |
T7258 |
parataxis |
encoding,XPCS |
R488 |
T820 |
T821 |
compound |
DNA,repair |
R4880 |
T7262 |
T7261 |
npadvmod |
G602D,encoding |
R4881 |
T7263 |
T7261 |
punct |
-,encoding |
R4882 |
T7264 |
T7261 |
punct |
),encoding |
R4883 |
T7265 |
T7258 |
cc |
and,XPCS |
R4884 |
T7266 |
T7258 |
conj |
XP,XPCS |
R4885 |
T7267 |
T7268 |
punct |
(,encoding |
R4886 |
T7268 |
T7266 |
parataxis |
encoding,XP |
R4887 |
T7269 |
T7268 |
npadvmod |
R683W,encoding |
R4888 |
T7270 |
T7268 |
punct |
-,encoding |
R4889 |
T7271 |
T7268 |
punct |
),encoding |
R489 |
T821 |
T817 |
conj |
repair,initiation |
R4890 |
T7272 |
T7259 |
prep |
in,mutations |
R4891 |
T7273 |
T7274 |
nmod |
exons,19 |
R4892 |
T7274 |
T7272 |
pobj |
19,in |
R4893 |
T7275 |
T7274 |
cc |
and,19 |
R4894 |
T7276 |
T7274 |
conj |
22,19 |
R4895 |
T7277 |
T7248 |
punct |
", ",indicate |
R4896 |
T7278 |
T7248 |
advmod |
respectively,indicate |
R4897 |
T7279 |
T7248 |
punct |
.,indicate |
R4898 |
T7281 |
T7282 |
det |
The,probe |
R4899 |
T7282 |
T7286 |
nsubjpass |
probe,marked |
R490 |
T822 |
T821 |
compound |
damage,repair |
R4900 |
T7283 |
T7282 |
amod |
unique,probe |
R4901 |
T7284 |
T7282 |
nummod |
3,probe |
R4902 |
T7285 |
T7284 |
punct |
′,3 |
R4903 |
T7287 |
T7282 |
acl |
located,probe |
R4904 |
T7288 |
T7287 |
prep |
outside,located |
R4905 |
T7289 |
T7290 |
det |
the,construct |
R4906 |
T7290 |
T7288 |
pobj |
construct,outside |
R4907 |
T7291 |
T7290 |
amod |
targeting,construct |
R4908 |
T7292 |
T7286 |
auxpass |
is,marked |
R4909 |
T7293 |
T7286 |
agent |
by,marked |
R491 |
T823 |
T821 |
prep |
via,repair |
R4910 |
T7294 |
T7295 |
det |
a,line |
R4911 |
T7295 |
T7293 |
pobj |
line,by |
R4912 |
T7296 |
T7295 |
amod |
thick,line |
R4913 |
T7297 |
T7295 |
amod |
black,line |
R4914 |
T7298 |
T7286 |
punct |
.,marked |
R4915 |
T7300 |
T7301 |
compound |
Restriction,sites |
R4916 |
T7302 |
T7301 |
punct |
: ,sites |
R4917 |
T7303 |
T7301 |
appos |
B,sites |
R4918 |
T7304 |
T7303 |
punct |
", ",B |
R4919 |
T7305 |
T7303 |
appos |
BamHI,B |
R492 |
T824 |
T825 |
det |
the,pathway |
R4920 |
T7306 |
T7303 |
punct |
;,B |
R4921 |
T7307 |
T7303 |
appos |
C,B |
R4922 |
T7308 |
T7307 |
punct |
", ",C |
R4923 |
T7309 |
T7307 |
appos |
ClaI,C |
R4924 |
T7310 |
T7303 |
punct |
;,B |
R4925 |
T7311 |
T7303 |
appos |
E,B |
R4926 |
T7312 |
T7311 |
punct |
", ",E |
R4927 |
T7313 |
T7311 |
appos |
EcoRI,E |
R4928 |
T7314 |
T7303 |
punct |
;,B |
R4929 |
T7315 |
T7303 |
appos |
H,B |
R493 |
T825 |
T823 |
pobj |
pathway,via |
R4930 |
T7316 |
T7315 |
punct |
", ",H |
R4931 |
T7317 |
T7315 |
appos |
HindIII,H |
R4932 |
T7318 |
T7303 |
punct |
;,B |
R4933 |
T7319 |
T7303 |
appos |
Hp,B |
R4934 |
T7320 |
T7319 |
punct |
", ",Hp |
R4935 |
T7321 |
T7319 |
appos |
HpaI,Hp |
R4936 |
T7322 |
T7303 |
punct |
;,B |
R4937 |
T7323 |
T7303 |
appos |
Sf,B |
R4938 |
T7324 |
T7323 |
punct |
", ",Sf |
R4939 |
T7325 |
T7323 |
appos |
SfiI,Sf |
R494 |
T826 |
T827 |
nmod |
nucleotide,repair |
R4940 |
T7326 |
T7301 |
punct |
.,sites |
R4941 |
T7328 |
T7329 |
punct |
(,B |
R4942 |
T7329 |
T7330 |
meta |
B,analysis |
R4943 |
T7331 |
T7329 |
punct |
),B |
R4944 |
T7332 |
T7333 |
compound |
Southern,blot |
R4945 |
T7333 |
T7330 |
compound |
blot,analysis |
R4946 |
T7334 |
T7330 |
prep |
of,analysis |
R4947 |
T7335 |
T7336 |
npadvmod |
EcoRI,digested |
R4948 |
T7336 |
T7338 |
amod |
digested,DNA |
R4949 |
T7337 |
T7336 |
punct |
-,digested |
R495 |
T827 |
T825 |
nmod |
repair,pathway |
R4950 |
T7338 |
T7334 |
pobj |
DNA,of |
R4951 |
T7339 |
T7338 |
amod |
genomic,DNA |
R4952 |
T7340 |
T7338 |
prep |
from,DNA |
R4953 |
T7341 |
T7342 |
nmod |
wt,clones |
R4954 |
T7342 |
T7340 |
pobj |
clones,from |
R4955 |
T7343 |
T7341 |
punct |
", ",wt |
R4956 |
T7344 |
T7345 |
compound |
Xpd†XPCS,wt |
R4957 |
T7345 |
T7341 |
conj |
wt,wt |
R4958 |
T7346 |
T7345 |
punct |
/,wt |
R4959 |
T7347 |
T7345 |
punct |
", ",wt |
R496 |
T828 |
T827 |
nmod |
excision,repair |
R4960 |
T7348 |
T7345 |
cc |
and,wt |
R4961 |
T7349 |
T7350 |
compound |
Xpd†XP,wt |
R4962 |
T7350 |
T7345 |
conj |
wt,wt |
R4963 |
T7351 |
T7350 |
punct |
/,wt |
R4964 |
T7352 |
T7342 |
amod |
recombinant,clones |
R4965 |
T7353 |
T7354 |
amod |
embryonic,cell |
R4966 |
T7354 |
T7342 |
compound |
cell,clones |
R4967 |
T7355 |
T7354 |
compound |
stem,cell |
R4968 |
T7356 |
T7342 |
acl |
hybridised,clones |
R4969 |
T7357 |
T7356 |
prep |
with,hybridised |
R497 |
T829 |
T827 |
punct |
(,repair |
R4970 |
T7358 |
T7359 |
det |
the,probe |
R4971 |
T7359 |
T7357 |
pobj |
probe,with |
R4972 |
T7360 |
T7359 |
nummod |
3,probe |
R4973 |
T7361 |
T7360 |
punct |
′,3 |
R4974 |
T7362 |
T7359 |
acl |
depicted,probe |
R4975 |
T7363 |
T7362 |
prep |
in,depicted |
R4976 |
T7364 |
T7363 |
punct |
(,in |
R4977 |
T7365 |
T7363 |
pobj |
A,in |
R4978 |
T7366 |
T7330 |
punct |
),analysis |
R4979 |
T7367 |
T7330 |
punct |
.,analysis |
R498 |
T830 |
T827 |
appos |
NER,repair |
R4980 |
T7369 |
T7370 |
det |
The,allele |
R4981 |
T7370 |
T7372 |
nsubj |
allele,yields |
R4982 |
T7371 |
T7370 |
compound |
wt,allele |
R4983 |
T7373 |
T7374 |
det |
a,fragment |
R4984 |
T7374 |
T7372 |
dobj |
fragment,yields |
R4985 |
T7375 |
T7376 |
nummod |
6.5,kilobase |
R4986 |
T7376 |
T7374 |
nmod |
kilobase,fragment |
R4987 |
T7377 |
T7376 |
punct |
-,kilobase |
R4988 |
T7378 |
T7376 |
punct |
(,kilobase |
R4989 |
T7379 |
T7376 |
appos |
kb,kilobase |
R499 |
T831 |
T825 |
punct |
),pathway |
R4990 |
T7380 |
T7374 |
punct |
),fragment |
R4991 |
T7381 |
T7372 |
punct |
", ",yields |
R4992 |
T7382 |
T7383 |
mark |
whereas,yield |
R4993 |
T7383 |
T7372 |
advcl |
yield,yields |
R4994 |
T7384 |
T7385 |
preconj |
both,alleles |
R4995 |
T7385 |
T7383 |
nsubj |
alleles,yield |
R4996 |
T7386 |
T7385 |
amod |
targeted,alleles |
R4997 |
T7387 |
T7385 |
nmod |
Xpd†XP,alleles |
R4998 |
T7388 |
T7387 |
cc |
and,Xpd†XP |
R4999 |
T7389 |
T7387 |
conj |
Xpd†XPCS,Xpd†XP |
R500 |
T832 |
T833 |
punct |
[,7 |
R5000 |
T7390 |
T7391 |
det |
a,fragment |
R5001 |
T7391 |
T7383 |
dobj |
fragment,yield |
R5002 |
T7392 |
T7393 |
nummod |
5.1,kb |
R5003 |
T7393 |
T7391 |
compound |
kb,fragment |
R5004 |
T7394 |
T7393 |
punct |
-,kb |
R5005 |
T7395 |
T7372 |
punct |
.,yields |
R5006 |
T7397 |
T7398 |
punct |
(,C |
R5007 |
T7398 |
T7399 |
meta |
C,Genotyping |
R5008 |
T7400 |
T7398 |
punct |
),C |
R5009 |
T7401 |
T7399 |
prep |
of,Genotyping |
R501 |
T833 |
T783 |
parataxis |
7,one |
R5010 |
T7402 |
T7403 |
nmod |
wt,alleles |
R5011 |
T7403 |
T7401 |
pobj |
alleles,of |
R5012 |
T7404 |
T7402 |
cc |
and,wt |
R5013 |
T7405 |
T7402 |
conj |
targeted,wt |
R5014 |
T7406 |
T7399 |
prep |
by,Genotyping |
R5015 |
T7407 |
T7406 |
pobj |
PCR,by |
R5016 |
T7408 |
T7399 |
acl |
using,Genotyping |
R5017 |
T7409 |
T7408 |
dobj |
primers,using |
R5018 |
T7410 |
T7409 |
appos |
F2,primers |
R5019 |
T7411 |
T7410 |
punct |
", ",F2 |
R502 |
T834 |
T833 |
nummod |
6,7 |
R5020 |
T7412 |
T7410 |
conj |
R1,F2 |
R5021 |
T7413 |
T7412 |
punct |
", ",R1 |
R5022 |
T7414 |
T7412 |
cc |
and,R1 |
R5023 |
T7415 |
T7412 |
conj |
mR,R1 |
R5024 |
T7416 |
T7417 |
mark |
as,indicated |
R5025 |
T7417 |
T7408 |
advcl |
indicated,using |
R5026 |
T7418 |
T7408 |
prep |
in,using |
R5027 |
T7419 |
T7420 |
punct |
(,A |
R5028 |
T7420 |
T7421 |
meta |
A,fragments |
R5029 |
T7421 |
T7418 |
pobj |
fragments,in |
R503 |
T835 |
T833 |
punct |
",",7 |
R5030 |
T7422 |
T7420 |
punct |
),A |
R5031 |
T7423 |
T7421 |
nmod |
yields,fragments |
R5032 |
T7424 |
T7421 |
prep |
of,fragments |
R5033 |
T7425 |
T7426 |
nummod |
399,bp |
R5034 |
T7426 |
T7424 |
pobj |
bp,of |
R5035 |
T7427 |
T7426 |
cc |
and,bp |
R5036 |
T7428 |
T7429 |
nummod |
468,bp |
R5037 |
T7429 |
T7426 |
conj |
bp,bp |
R5038 |
T7430 |
T7408 |
punct |
", ",using |
R5039 |
T7431 |
T7408 |
advmod |
respectively,using |
R504 |
T836 |
T833 |
punct |
],7 |
R5040 |
T7432 |
T7399 |
punct |
.,Genotyping |
R5041 |
T7434 |
T7435 |
punct |
(,D |
R5042 |
T7435 |
T7436 |
meta |
D,results |
R5043 |
T7437 |
T7435 |
punct |
),D |
R5044 |
T7438 |
T7439 |
compound |
RT,PCR |
R5045 |
T7439 |
T7441 |
compound |
PCR,detection |
R5046 |
T7440 |
T7439 |
punct |
-,PCR |
R5047 |
T7441 |
T7436 |
nsubj |
detection,results |
R5048 |
T7442 |
T7441 |
prep |
of,detection |
R5049 |
T7443 |
T7444 |
compound |
mRNA,expression |
R505 |
T837 |
T782 |
punct |
.,encodes |
R5050 |
T7444 |
T7442 |
pobj |
expression,of |
R5051 |
T7445 |
T7444 |
acl |
originating,expression |
R5052 |
T7446 |
T7445 |
prep |
from,originating |
R5053 |
T7447 |
T7448 |
det |
the,alleles |
R5054 |
T7448 |
T7446 |
pobj |
alleles,from |
R5055 |
T7449 |
T7448 |
amod |
targeted,alleles |
R5056 |
T7450 |
T7448 |
nmod |
†XP,alleles |
R5057 |
T7451 |
T7450 |
cc |
and,†XP |
R5058 |
T7452 |
T7450 |
conj |
†XPCS,†XP |
R5059 |
T7453 |
T7441 |
prep |
in,detection |
R506 |
T839 |
T840 |
nsubjpass |
Alterations,associated |
R5060 |
T7454 |
T7455 |
amod |
embryonic,cell |
R5061 |
T7455 |
T7457 |
compound |
cell,clones |
R5062 |
T7456 |
T7455 |
compound |
stem,cell |
R5063 |
T7457 |
T7453 |
pobj |
clones,in |
R5064 |
T7458 |
T7441 |
acl |
using,detection |
R5065 |
T7459 |
T7458 |
dobj |
primers,using |
R5066 |
T7460 |
T7459 |
appos |
F1,primers |
R5067 |
T7461 |
T7462 |
punct |
(,hybridising |
R5068 |
T7462 |
T7460 |
parataxis |
hybridising,F1 |
R5069 |
T7463 |
T7462 |
prep |
outside,hybridising |
R507 |
T841 |
T839 |
prep |
in,Alterations |
R5070 |
T7464 |
T7465 |
det |
the,construct |
R5071 |
T7465 |
T7463 |
pobj |
construct,outside |
R5072 |
T7466 |
T7465 |
amod |
targeting,construct |
R5073 |
T7467 |
T7462 |
punct |
),hybridising |
R5074 |
T7468 |
T7460 |
cc |
and,F1 |
R5075 |
T7469 |
T7460 |
conj |
mR,F1 |
R5076 |
T7470 |
T7471 |
mark |
as,indicated |
R5077 |
T7471 |
T7458 |
advcl |
indicated,using |
R5078 |
T7472 |
T7471 |
prep |
in,indicated |
R5079 |
T7473 |
T7472 |
punct |
(,in |
R508 |
T842 |
T841 |
pobj |
XPD,in |
R5080 |
T7474 |
T7472 |
pobj |
A,in |
R5081 |
T7475 |
T7436 |
punct |
),results |
R5082 |
T7476 |
T7436 |
prep |
in,results |
R5083 |
T7477 |
T7478 |
det |
a,fragment |
R5084 |
T7478 |
T7476 |
pobj |
fragment,in |
R5085 |
T7479 |
T7480 |
nummod |
"1,416",bp |
R5086 |
T7480 |
T7478 |
compound |
bp,fragment |
R5087 |
T7481 |
T7480 |
punct |
-,bp |
R5088 |
T7482 |
T7436 |
punct |
.,results |
R5089 |
T7484 |
T7485 |
punct |
(,E |
R509 |
T843 |
T839 |
acl |
resulting,Alterations |
R5090 |
T7485 |
T7486 |
meta |
E,analysis |
R5091 |
T7487 |
T7485 |
punct |
),E |
R5092 |
T7488 |
T7489 |
compound |
Northern,blot |
R5093 |
T7489 |
T7486 |
compound |
blot,analysis |
R5094 |
T7490 |
T7486 |
prep |
of,analysis |
R5095 |
T7491 |
T7492 |
amod |
total,RNA |
R5096 |
T7492 |
T7490 |
pobj |
RNA,of |
R5097 |
T7493 |
T7492 |
acl |
isolated,RNA |
R5098 |
T7494 |
T7493 |
prep |
from,isolated |
R5099 |
T7495 |
T7494 |
pobj |
testis,from |
R510 |
T844 |
T843 |
prep |
in,resulting |
R5100 |
T7496 |
T7495 |
prep |
of,testis |
R5101 |
T7497 |
T7498 |
amod |
homozygous,wt |
R5102 |
T7498 |
T7499 |
nmod |
wt,mice |
R5103 |
T7499 |
T7496 |
pobj |
mice,of |
R5104 |
T7500 |
T7498 |
cc |
and,wt |
R5105 |
T7501 |
T7502 |
compound |
XpdTTD,TTD |
R5106 |
T7502 |
T7498 |
conj |
TTD,wt |
R5107 |
T7503 |
T7502 |
punct |
/,TTD |
R5108 |
T7504 |
T7498 |
punct |
", ",wt |
R5109 |
T7505 |
T7506 |
amod |
heterozygous,wt |
R511 |
T845 |
T846 |
amod |
defective,function |
R5110 |
T7506 |
T7498 |
conj |
wt,wt |
R5111 |
T7507 |
T7506 |
compound |
Xpd†XPCS,wt |
R5112 |
T7508 |
T7506 |
punct |
/,wt |
R5113 |
T7509 |
T7506 |
cc |
and,wt |
R5114 |
T7510 |
T7511 |
compound |
XpdTTD,wt |
R5115 |
T7511 |
T7506 |
conj |
wt,wt |
R5116 |
T7512 |
T7511 |
punct |
/,wt |
R5117 |
T7513 |
T7506 |
punct |
", ",wt |
R5118 |
T7514 |
T7506 |
cc |
and,wt |
R5119 |
T7515 |
T7516 |
amod |
compound,TTD |
R512 |
T846 |
T844 |
pobj |
function,in |
R5120 |
T7516 |
T7506 |
conj |
TTD,wt |
R5121 |
T7517 |
T7516 |
amod |
heterozygous,TTD |
R5122 |
T7518 |
T7516 |
compound |
Xpd†XPCS,TTD |
R5123 |
T7519 |
T7516 |
punct |
/,TTD |
R5124 |
T7520 |
T7521 |
mark |
as,indicated |
R5125 |
T7521 |
T7493 |
advcl |
indicated,isolated |
R5126 |
T7522 |
T7486 |
punct |
.,analysis |
R5127 |
T7524 |
T7525 |
nsubj |
Hybridisation,detects |
R5128 |
T7526 |
T7524 |
prep |
with,Hybridisation |
R5129 |
T7527 |
T7528 |
det |
a,probe |
R513 |
T847 |
T846 |
compound |
TFIIH,function |
R5130 |
T7528 |
T7526 |
pobj |
probe,with |
R5131 |
T7529 |
T7530 |
nummod |
1.4,kb |
R5132 |
T7530 |
T7528 |
compound |
kb,probe |
R5133 |
T7531 |
T7530 |
punct |
-,kb |
R5134 |
T7532 |
T7528 |
compound |
mouse,probe |
R5135 |
T7533 |
T7528 |
compound |
Xpd,probe |
R5136 |
T7534 |
T7528 |
compound |
cDNA,probe |
R5137 |
T7535 |
T7525 |
dobj |
mRNAs,detects |
R5138 |
T7536 |
T7535 |
prep |
of,mRNAs |
R5139 |
T7537 |
T7538 |
nummod |
4,kb |
R514 |
T848 |
T840 |
auxpass |
are,associated |
R5140 |
T7538 |
T7536 |
pobj |
kb,of |
R5141 |
T7539 |
T7537 |
punct |
", ",4 |
R5142 |
T7540 |
T7537 |
conj |
3.3,4 |
R5143 |
T7541 |
T7540 |
punct |
", ",3.3 |
R5144 |
T7542 |
T7540 |
cc |
and,3.3 |
R5145 |
T7543 |
T7540 |
conj |
2.7,3.3 |
R5146 |
T7544 |
T7535 |
prep |
from,mRNAs |
R5147 |
T7545 |
T7546 |
nmod |
wt,alleles |
R5148 |
T7546 |
T7544 |
pobj |
alleles,from |
R5149 |
T7547 |
T7545 |
punct |
", ",wt |
R515 |
T849 |
T840 |
prep |
with,associated |
R5150 |
T7548 |
T7545 |
conj |
Xpd†XPCS,wt |
R5151 |
T7549 |
T7548 |
punct |
", ",Xpd†XPCS |
R5152 |
T7550 |
T7548 |
cc |
and,Xpd†XPCS |
R5153 |
T7551 |
T7548 |
conj |
XpdTTD,Xpd†XPCS |
R5154 |
T7552 |
T7535 |
punct |
", ",mRNAs |
R5155 |
T7553 |
T7535 |
advmod |
respectively,mRNAs |
R5156 |
T7554 |
T7525 |
punct |
.,detects |
R5157 |
T7556 |
T7557 |
det |
An,gel |
R5158 |
T7557 |
T7565 |
nsubjpass |
gel,shown |
R5159 |
T7558 |
T7559 |
compound |
ethidium,bromide |
R516 |
T850 |
T851 |
npadvmod |
UV,sensitive |
R5160 |
T7559 |
T7560 |
npadvmod |
bromide,stained |
R5161 |
T7560 |
T7557 |
amod |
stained,gel |
R5162 |
T7561 |
T7559 |
punct |
(,bromide |
R5163 |
T7562 |
T7559 |
appos |
EtBr,bromide |
R5164 |
T7563 |
T7560 |
punct |
),stained |
R5165 |
T7564 |
T7560 |
punct |
–,stained |
R5166 |
T7566 |
T7557 |
acl |
showing,gel |
R5167 |
T7567 |
T7568 |
det |
the,amount |
R5168 |
T7568 |
T7566 |
dobj |
amount,showing |
R5169 |
T7569 |
T7568 |
prep |
of,amount |
R517 |
T851 |
T853 |
amod |
sensitive,disorders |
R5170 |
T7570 |
T7571 |
amod |
total,RNA |
R5171 |
T7571 |
T7569 |
pobj |
RNA,of |
R5172 |
T7572 |
T7571 |
acl |
loaded,RNA |
R5173 |
T7573 |
T7565 |
auxpass |
is,shown |
R5174 |
T7574 |
T7565 |
advmod |
below,shown |
R5175 |
T7575 |
T7565 |
punct |
.,shown |
R5176 |
T7658 |
T7659 |
amod |
Partial,Rescue |
R5177 |
T7660 |
T7659 |
prep |
of,Rescue |
R5178 |
T7661 |
T7660 |
pobj |
TTD,of |
R5179 |
T7662 |
T7661 |
amod |
Cutaneous,TTD |
R518 |
T852 |
T851 |
punct |
-,sensitive |
R5180 |
T7663 |
T7661 |
punct |
", ",TTD |
R5181 |
T7664 |
T7661 |
conj |
Blood,TTD |
R5182 |
T7665 |
T7664 |
punct |
", ",Blood |
R5183 |
T7666 |
T7664 |
cc |
and,Blood |
R5184 |
T7667 |
T7668 |
amod |
Developmental,Phenotypes |
R5185 |
T7668 |
T7664 |
conj |
Phenotypes,Blood |
R5186 |
T7669 |
T7659 |
prep |
in,Rescue |
R5187 |
T7670 |
T7671 |
nmod |
Compound,Mice |
R5188 |
T7671 |
T7669 |
pobj |
Mice,in |
R5189 |
T7672 |
T7671 |
amod |
Heterozygous,Mice |
R519 |
T853 |
T849 |
pobj |
disorders,with |
R5190 |
T7673 |
T7674 |
compound |
XpdTTD,†XPCS |
R5191 |
T7674 |
T7671 |
compound |
†XPCS,Mice |
R5192 |
T7675 |
T7674 |
punct |
/,†XPCS |
R5193 |
T7677 |
T7678 |
punct |
(,A |
R5194 |
T7678 |
T7679 |
meta |
A,Photographs |
R5195 |
T7680 |
T7678 |
punct |
),A |
R5196 |
T7681 |
T7679 |
prep |
of,Photographs |
R5197 |
T7682 |
T7683 |
nummod |
5,mo |
R5198 |
T7683 |
T7685 |
npadvmod |
mo,old |
R5199 |
T7684 |
T7683 |
punct |
-,mo |
R520 |
T854 |
T853 |
punct |
", ",disorders |
R5200 |
T7685 |
T7687 |
amod |
old,mice |
R5201 |
T7686 |
T7685 |
punct |
-,old |
R5202 |
T7687 |
T7681 |
pobj |
mice,of |
R5203 |
T7688 |
T7689 |
amod |
homozygous,TTD |
R5204 |
T7689 |
T7687 |
nmod |
TTD,mice |
R5205 |
T7690 |
T7689 |
nmod |
XpdTTD,TTD |
R5206 |
T7691 |
T7689 |
punct |
/,TTD |
R5207 |
T7692 |
T7689 |
punct |
", ",TTD |
R5208 |
T7693 |
T7694 |
nmod |
compound,†XPCS |
R5209 |
T7694 |
T7689 |
conj |
†XPCS,TTD |
R521 |
T855 |
T853 |
amod |
multisystem,disorders |
R5210 |
T7695 |
T7694 |
amod |
heterozygous,†XPCS |
R5211 |
T7696 |
T7694 |
compound |
XpdTTD,†XPCS |
R5212 |
T7697 |
T7694 |
punct |
/,†XPCS |
R5213 |
T7698 |
T7694 |
punct |
", ",†XPCS |
R5214 |
T7699 |
T7694 |
cc |
and,†XPCS |
R5215 |
T7700 |
T7694 |
conj |
wt,†XPCS |
R5216 |
T7701 |
T7679 |
punct |
.,Photographs |
R5217 |
T7704 |
T7703 |
punct |
: ,Insets |
R5218 |
T7705 |
T7703 |
appos |
images,Insets |
R5219 |
T7706 |
T7705 |
prep |
of,images |
R522 |
T856 |
T853 |
prep |
including,disorders |
R5220 |
T7707 |
T7708 |
amod |
first,round |
R5221 |
T7708 |
T7710 |
compound |
round,loss |
R5222 |
T7709 |
T7708 |
punct |
-,round |
R5223 |
T7710 |
T7706 |
pobj |
loss,of |
R5224 |
T7711 |
T7710 |
compound |
hair,loss |
R5225 |
T7712 |
T7703 |
punct |
.,Insets |
R5226 |
T7714 |
T7715 |
punct |
(,B |
R5227 |
T7715 |
T7716 |
meta |
B,analysis |
R5228 |
T7717 |
T7715 |
punct |
),B |
R5229 |
T7718 |
T7716 |
amod |
Histological,analysis |
R523 |
T857 |
T858 |
compound |
xeroderma,pigmentosum |
R5230 |
T7719 |
T7716 |
prep |
of,analysis |
R5231 |
T7720 |
T7721 |
det |
the,skin |
R5232 |
T7721 |
T7719 |
pobj |
skin,of |
R5233 |
T7722 |
T7721 |
prep |
of,skin |
R5234 |
T7723 |
T7724 |
nmod |
XpdTTD,TTD |
R5235 |
T7724 |
T7726 |
nmod |
TTD,mice |
R5236 |
T7725 |
T7724 |
punct |
/,TTD |
R5237 |
T7726 |
T7722 |
pobj |
mice,of |
R5238 |
T7727 |
T7724 |
punct |
", ",TTD |
R5239 |
T7728 |
T7729 |
compound |
XpdTTD,†XPCS |
R524 |
T858 |
T856 |
pobj |
pigmentosum,including |
R5240 |
T7729 |
T7724 |
conj |
†XPCS,TTD |
R5241 |
T7730 |
T7729 |
punct |
/,†XPCS |
R5242 |
T7731 |
T7729 |
punct |
", ",†XPCS |
R5243 |
T7732 |
T7729 |
cc |
and,†XPCS |
R5244 |
T7733 |
T7729 |
conj |
wt,†XPCS |
R5245 |
T7734 |
T7716 |
punct |
.,analysis |
R5246 |
T7736 |
T7737 |
npadvmod |
TTD,associated |
R5247 |
T7737 |
T7739 |
amod |
associated,acanthosis |
R5248 |
T7738 |
T7737 |
punct |
-,associated |
R5249 |
T7739 |
T7740 |
nsubj |
acanthosis,were |
R525 |
T859 |
T858 |
punct |
(,pigmentosum |
R5250 |
T7741 |
T7742 |
punct |
(,epidermis |
R5251 |
T7742 |
T7739 |
parataxis |
epidermis,acanthosis |
R5252 |
T7743 |
T7742 |
amod |
thicker,epidermis |
R5253 |
T7744 |
T7742 |
punct |
", ",epidermis |
R5254 |
T7745 |
T7742 |
acl |
indicated,epidermis |
R5255 |
T7746 |
T7745 |
agent |
by,indicated |
R5256 |
T7747 |
T7748 |
amod |
solid,line |
R5257 |
T7748 |
T7746 |
pobj |
line,by |
R5258 |
T7749 |
T7748 |
amod |
vertical,line |
R5259 |
T7750 |
T7742 |
punct |
),epidermis |
R526 |
T860 |
T858 |
appos |
XP,pigmentosum |
R5260 |
T7751 |
T7739 |
punct |
", ",acanthosis |
R5261 |
T7752 |
T7753 |
amod |
pronounced,layer |
R5262 |
T7753 |
T7739 |
conj |
layer,acanthosis |
R5263 |
T7754 |
T7753 |
amod |
granular,layer |
R5264 |
T7755 |
T7753 |
punct |
(,layer |
R5265 |
T7756 |
T7753 |
acl |
indicated,layer |
R5266 |
T7757 |
T7756 |
agent |
by,indicated |
R5267 |
T7758 |
T7757 |
pobj |
arrows,by |
R5268 |
T7759 |
T7753 |
punct |
),layer |
R5269 |
T7760 |
T7753 |
punct |
", ",layer |
R527 |
T861 |
T858 |
punct |
),pigmentosum |
R5270 |
T7761 |
T7753 |
cc |
and,layer |
R5271 |
T7762 |
T7763 |
amod |
sebacious,hyperplasia |
R5272 |
T7763 |
T7753 |
conj |
hyperplasia,layer |
R5273 |
T7764 |
T7763 |
compound |
gland,hyperplasia |
R5274 |
T7765 |
T7763 |
punct |
(,hyperplasia |
R5275 |
T7766 |
T7763 |
acl |
indicated,hyperplasia |
R5276 |
T7767 |
T7766 |
agent |
by,indicated |
R5277 |
T7768 |
T7769 |
amod |
dotted,line |
R5278 |
T7769 |
T7767 |
pobj |
line,by |
R5279 |
T7770 |
T7769 |
amod |
vertical,line |
R528 |
T862 |
T858 |
punct |
", ",pigmentosum |
R5280 |
T7771 |
T7740 |
punct |
),were |
R5281 |
T7772 |
T7740 |
acomp |
absent,were |
R5282 |
T7773 |
T7740 |
prep |
in,were |
R5283 |
T7774 |
T7775 |
det |
the,epidermis |
R5284 |
T7775 |
T7773 |
pobj |
epidermis,in |
R5285 |
T7776 |
T7775 |
prep |
of,epidermis |
R5286 |
T7777 |
T7778 |
nmod |
XpdTTD,†XPCS |
R5287 |
T7778 |
T7780 |
nmod |
†XPCS,mice |
R5288 |
T7779 |
T7778 |
punct |
/,†XPCS |
R5289 |
T7780 |
T7776 |
pobj |
mice,of |
R529 |
T863 |
T858 |
conj |
XP,pigmentosum |
R5290 |
T7781 |
T7778 |
cc |
and,†XPCS |
R5291 |
T7782 |
T7778 |
conj |
wt,†XPCS |
R5292 |
T7783 |
T7740 |
punct |
.,were |
R5293 |
T7786 |
T7785 |
appos |
400,Magnification |
R5294 |
T7787 |
T7786 |
punct |
×,400 |
R5295 |
T7788 |
T7785 |
punct |
.,Magnification |
R5296 |
T7790 |
T7791 |
punct |
(,C |
R5297 |
T7791 |
T7792 |
meta |
C,content |
R5298 |
T7793 |
T7791 |
punct |
),C |
R5299 |
T7794 |
T7792 |
compound |
Cysteine,content |
R530 |
T864 |
T863 |
acl |
combined,XP |
R5300 |
T7795 |
T7792 |
prep |
of,content |
R5301 |
T7796 |
T7795 |
pobj |
hair,of |
R5302 |
T7797 |
T7796 |
prep |
from,hair |
R5303 |
T7798 |
T7799 |
nmod |
wt,mice |
R5304 |
T7799 |
T7797 |
pobj |
mice,from |
R5305 |
T7800 |
T7798 |
punct |
", ",wt |
R5306 |
T7801 |
T7802 |
compound |
XpdTTD,TTD |
R5307 |
T7802 |
T7798 |
conj |
TTD,wt |
R5308 |
T7803 |
T7802 |
punct |
/,TTD |
R5309 |
T7804 |
T7802 |
punct |
", ",TTD |
R531 |
T865 |
T864 |
prep |
with,combined |
R5310 |
T7805 |
T7802 |
cc |
and,TTD |
R5311 |
T7806 |
T7807 |
compound |
XpdTTD,†XPCS |
R5312 |
T7807 |
T7802 |
conj |
†XPCS,TTD |
R5313 |
T7808 |
T7807 |
punct |
/,†XPCS |
R5314 |
T7809 |
T7792 |
punct |
.,content |
R5315 |
T7811 |
T7812 |
det |
The,value |
R5316 |
T7812 |
T7815 |
nsubj |
value,indicates |
R5317 |
T7813 |
T7812 |
compound |
p,value |
R5318 |
T7814 |
T7812 |
punct |
-,value |
R5319 |
T7816 |
T7817 |
amod |
significant,differences |
R532 |
T866 |
T867 |
compound |
Cockayne,syndrome |
R5320 |
T7817 |
T7815 |
dobj |
differences,indicates |
R5321 |
T7818 |
T7817 |
prep |
between,differences |
R5322 |
T7819 |
T7818 |
pobj |
mutants,between |
R5323 |
T7820 |
T7819 |
cc |
and,mutants |
R5324 |
T7821 |
T7819 |
conj |
wt,mutants |
R5325 |
T7822 |
T7818 |
punct |
", ",between |
R5326 |
T7823 |
T7824 |
advmod |
as,as |
R5327 |
T7824 |
T7818 |
cc |
as,between |
R5328 |
T7825 |
T7824 |
advmod |
well,as |
R5329 |
T7826 |
T7818 |
conj |
between,between |
R533 |
T867 |
T865 |
pobj |
syndrome,with |
R5330 |
T7827 |
T7828 |
nmod |
XpdTTD,TTD |
R5331 |
T7828 |
T7830 |
nmod |
TTD,mice |
R5332 |
T7829 |
T7828 |
punct |
/,TTD |
R5333 |
T7830 |
T7826 |
pobj |
mice,between |
R5334 |
T7831 |
T7828 |
cc |
and,TTD |
R5335 |
T7832 |
T7833 |
compound |
XpdTTD,†XPCS |
R5336 |
T7833 |
T7828 |
conj |
†XPCS,TTD |
R5337 |
T7834 |
T7833 |
punct |
/,†XPCS |
R5338 |
T7835 |
T7815 |
punct |
.,indicates |
R5339 |
T7837 |
T7838 |
compound |
Error,bars |
R534 |
T868 |
T867 |
punct |
(,syndrome |
R5340 |
T7838 |
T7839 |
nsubj |
bars,indicate |
R5341 |
T7840 |
T7841 |
amod |
standard,error |
R5342 |
T7841 |
T7839 |
dobj |
error,indicate |
R5343 |
T7842 |
T7841 |
prep |
of,error |
R5344 |
T7843 |
T7844 |
det |
the,mean |
R5345 |
T7844 |
T7842 |
pobj |
mean,of |
R5346 |
T7845 |
T7841 |
punct |
(,error |
R5347 |
T7846 |
T7841 |
appos |
SEM,error |
R5348 |
T7847 |
T7839 |
punct |
),indicate |
R5349 |
T7848 |
T7839 |
punct |
.,indicate |
R535 |
T869 |
T867 |
appos |
CS,syndrome |
R5350 |
T7850 |
T7851 |
punct |
(,D |
R5351 |
T7851 |
T7852 |
meta |
D,values |
R5352 |
T7853 |
T7851 |
punct |
),D |
R5353 |
T7854 |
T7852 |
compound |
Hematocrit,values |
R5354 |
T7855 |
T7852 |
prep |
from,values |
R5355 |
T7856 |
T7855 |
pobj |
blood,from |
R5356 |
T7857 |
T7856 |
prep |
of,blood |
R5357 |
T7858 |
T7859 |
nmod |
XpdTTD,TTD |
R5358 |
T7859 |
T7861 |
nmod |
TTD,mice |
R5359 |
T7860 |
T7859 |
punct |
/,TTD |
R536 |
T870 |
T863 |
punct |
),XP |
R5360 |
T7861 |
T7857 |
pobj |
mice,of |
R5361 |
T7862 |
T7859 |
cc |
and,TTD |
R5362 |
T7863 |
T7864 |
compound |
XpdTTD,†XPCS |
R5363 |
T7864 |
T7859 |
conj |
†XPCS,TTD |
R5364 |
T7865 |
T7864 |
punct |
/,†XPCS |
R5365 |
T7866 |
T7852 |
punct |
.,values |
R5366 |
T7868 |
T7869 |
det |
The,values |
R5367 |
T7869 |
T7872 |
nsubj |
values,indicate |
R5368 |
T7870 |
T7869 |
compound |
p,values |
R5369 |
T7871 |
T7869 |
punct |
-,values |
R537 |
T871 |
T863 |
punct |
", ",XP |
R5370 |
T7873 |
T7874 |
det |
the,significance |
R5371 |
T7874 |
T7872 |
dobj |
significance,indicate |
R5372 |
T7875 |
T7874 |
prep |
of,significance |
R5373 |
T7876 |
T7877 |
det |
the,difference |
R5374 |
T7877 |
T7875 |
pobj |
difference,of |
R5375 |
T7878 |
T7872 |
advcl |
relative,indicate |
R5376 |
T7879 |
T7878 |
prep |
to,relative |
R5377 |
T7880 |
T7879 |
pobj |
wt,to |
R5378 |
T7881 |
T7872 |
punct |
.,indicate |
R5379 |
T7883 |
T7884 |
compound |
Error,bars |
R538 |
T872 |
T863 |
cc |
and,XP |
R5380 |
T7884 |
T7885 |
nsubj |
bars,indicate |
R5381 |
T7886 |
T7885 |
dobj |
SEM,indicate |
R5382 |
T7887 |
T7885 |
punct |
.,indicate |
R5383 |
T7889 |
T7890 |
punct |
(,E |
R5384 |
T7890 |
T7891 |
meta |
E,weights |
R5385 |
T7892 |
T7890 |
punct |
),E |
R5386 |
T7893 |
T7891 |
compound |
Body,weights |
R5387 |
T7894 |
T7891 |
prep |
of,weights |
R5388 |
T7895 |
T7896 |
amod |
developing,mice |
R5389 |
T7896 |
T7894 |
pobj |
mice,of |
R539 |
T873 |
T863 |
conj |
trichothiodystrophy,XP |
R5390 |
T7897 |
T7898 |
nmod |
XpdTTD,TTD |
R5391 |
T7898 |
T7896 |
nmod |
TTD,mice |
R5392 |
T7899 |
T7898 |
punct |
/,TTD |
R5393 |
T7900 |
T7898 |
cc |
and,TTD |
R5394 |
T7901 |
T7902 |
compound |
XpdTTD,†XPCS |
R5395 |
T7902 |
T7898 |
conj |
†XPCS,TTD |
R5396 |
T7903 |
T7902 |
punct |
/,†XPCS |
R5397 |
T7904 |
T7896 |
prep |
after,mice |
R5398 |
T7905 |
T7904 |
pobj |
weaning,after |
R5399 |
T7906 |
T7891 |
acl |
plotted,weights |
R540 |
T874 |
T873 |
punct |
(,trichothiodystrophy |
R5400 |
T7907 |
T7906 |
prep |
as,plotted |
R5401 |
T7908 |
T7909 |
det |
a,percentage |
R5402 |
T7909 |
T7907 |
pobj |
percentage,as |
R5403 |
T7910 |
T7909 |
prep |
of,percentage |
R5404 |
T7911 |
T7912 |
det |
the,weight |
R5405 |
T7912 |
T7910 |
pobj |
weight,of |
R5406 |
T7913 |
T7912 |
prep |
of,weight |
R5407 |
T7914 |
T7915 |
npadvmod |
age,matched |
R5408 |
T7915 |
T7917 |
amod |
matched,littermates |
R5409 |
T7916 |
T7915 |
punct |
-,matched |
R541 |
T875 |
T873 |
appos |
TTD,trichothiodystrophy |
R5410 |
T7917 |
T7913 |
pobj |
littermates,of |
R5411 |
T7918 |
T7917 |
nmod |
control,littermates |
R5412 |
T7919 |
T7917 |
nmod |
wt,littermates |
R5413 |
T7920 |
T7919 |
cc |
and,wt |
R5414 |
T7921 |
T7919 |
conj |
heterozygote,wt |
R5415 |
T7922 |
T7923 |
punct |
(,hz |
R5416 |
T7923 |
T7921 |
parataxis |
hz,heterozygote |
R5417 |
T7924 |
T7923 |
punct |
),hz |
R5418 |
T7925 |
T7926 |
punct |
(,set |
R5419 |
T7926 |
T7909 |
parataxis |
set,percentage |
R542 |
T876 |
T840 |
punct |
),associated |
R5420 |
T7927 |
T7926 |
prep |
at,set |
R5421 |
T7928 |
T7929 |
nummod |
100,% |
R5422 |
T7929 |
T7927 |
pobj |
%,at |
R5423 |
T7930 |
T7926 |
punct |
),set |
R5424 |
T7931 |
T7891 |
punct |
.,weights |
R5425 |
T7933 |
T7934 |
compound |
Error,bars |
R5426 |
T7934 |
T7935 |
nsubj |
bars,indicate |
R5427 |
T7936 |
T7935 |
dobj |
SEM,indicate |
R5428 |
T7937 |
T7935 |
punct |
.,indicate |
R5429 |
T8042 |
T8041 |
prep |
of,Rescue |
R543 |
T877 |
T878 |
punct |
[,8 |
R5430 |
T8043 |
T8044 |
npadvmod |
TTD,Associated |
R5431 |
T8044 |
T8046 |
amod |
Associated,Features |
R5432 |
T8045 |
T8044 |
punct |
-,Associated |
R5433 |
T8046 |
T8042 |
pobj |
Features,of |
R5434 |
T8047 |
T8046 |
amod |
Segmental,Features |
R5435 |
T8048 |
T8046 |
amod |
Progeroid,Features |
R5436 |
T8049 |
T8046 |
prep |
in,Features |
R5437 |
T8050 |
T8051 |
amod |
Compound,Mice |
R5438 |
T8051 |
T8049 |
pobj |
Mice,in |
R5439 |
T8052 |
T8051 |
amod |
Heterozygous,Mice |
R544 |
T878 |
T840 |
parataxis |
8,associated |
R5440 |
T8053 |
T8054 |
compound |
Xpd TTD,†XPCS |
R5441 |
T8054 |
T8051 |
compound |
†XPCS,Mice |
R5442 |
T8055 |
T8054 |
punct |
/,†XPCS |
R5443 |
T8057 |
T8058 |
punct |
(,A |
R5444 |
T8058 |
T8059 |
meta |
A,Photographs |
R5445 |
T8060 |
T8058 |
punct |
),A |
R5446 |
T8061 |
T8059 |
prep |
of,Photographs |
R5447 |
T8062 |
T8063 |
nummod |
20,mo |
R5448 |
T8063 |
T8065 |
npadvmod |
mo,old |
R5449 |
T8064 |
T8063 |
punct |
-,mo |
R545 |
T879 |
T880 |
punct |
–,10 |
R5450 |
T8065 |
T8067 |
amod |
old,mice |
R5451 |
T8066 |
T8065 |
punct |
-,old |
R5452 |
T8067 |
T8061 |
pobj |
mice,of |
R5453 |
T8068 |
T8067 |
nmod |
wt,mice |
R5454 |
T8069 |
T8068 |
punct |
", ",wt |
R5455 |
T8070 |
T8071 |
amod |
compound,†XPCS |
R5456 |
T8071 |
T8068 |
conj |
†XPCS,wt |
R5457 |
T8072 |
T8071 |
amod |
heterozygous,†XPCS |
R5458 |
T8073 |
T8071 |
compound |
XpdTTD,†XPCS |
R5459 |
T8074 |
T8071 |
punct |
/,†XPCS |
R546 |
T880 |
T878 |
prep |
10,8 |
R5460 |
T8075 |
T8071 |
punct |
", ",†XPCS |
R5461 |
T8076 |
T8071 |
cc |
and,†XPCS |
R5462 |
T8077 |
T8078 |
amod |
homozygous,TTD |
R5463 |
T8078 |
T8071 |
conj |
TTD,†XPCS |
R5464 |
T8079 |
T8078 |
compound |
XpdTTD,TTD |
R5465 |
T8080 |
T8078 |
punct |
/,TTD |
R5466 |
T8081 |
T8059 |
punct |
.,Photographs |
R5467 |
T8084 |
T8085 |
det |
the,cachexia |
R5468 |
T8085 |
T8083 |
dobj |
cachexia,Note |
R5469 |
T8086 |
T8085 |
amod |
extreme,cachexia |
R547 |
T881 |
T878 |
punct |
],8 |
R5470 |
T8087 |
T8085 |
punct |
(,cachexia |
R5471 |
T8088 |
T8085 |
appos |
lack,cachexia |
R5472 |
T8089 |
T8088 |
prep |
of,lack |
R5473 |
T8090 |
T8091 |
amod |
subcutaneous,fat |
R5474 |
T8091 |
T8089 |
pobj |
fat,of |
R5475 |
T8092 |
T8085 |
punct |
),cachexia |
R5476 |
T8093 |
T8085 |
prep |
in,cachexia |
R5477 |
T8094 |
T8095 |
det |
the,mouse |
R5478 |
T8095 |
T8093 |
pobj |
mouse,in |
R5479 |
T8096 |
T8097 |
compound |
XpdTTD,TTD |
R548 |
T882 |
T840 |
punct |
.,associated |
R5480 |
T8097 |
T8095 |
compound |
TTD,mouse |
R5481 |
T8098 |
T8097 |
punct |
/,TTD |
R5482 |
T8099 |
T8083 |
cc |
and,Note |
R5483 |
T8100 |
T8101 |
det |
the,absence |
R5484 |
T8101 |
T8083 |
conj |
absence,Note |
R5485 |
T8102 |
T8101 |
prep |
of,absence |
R5486 |
T8103 |
T8104 |
det |
this,phenotype |
R5487 |
T8104 |
T8102 |
pobj |
phenotype,of |
R5488 |
T8105 |
T8101 |
prep |
in,absence |
R5489 |
T8106 |
T8107 |
nmod |
wt,mice |
R549 |
T884 |
T885 |
nsubjpass |
XP,marked |
R5490 |
T8107 |
T8105 |
pobj |
mice,in |
R5491 |
T8108 |
T8106 |
cc |
and,wt |
R5492 |
T8109 |
T8110 |
compound |
XpdTTD,†XPCS |
R5493 |
T8110 |
T8106 |
conj |
†XPCS,wt |
R5494 |
T8111 |
T8110 |
punct |
/,†XPCS |
R5495 |
T8112 |
T8083 |
punct |
.,Note |
R5496 |
T8114 |
T8115 |
punct |
(,B |
R5497 |
T8115 |
T8116 |
meta |
B,Radiographs |
R5498 |
T8117 |
T8115 |
punct |
),B |
R5499 |
T8118 |
T8116 |
prep |
of,Radiographs |
R550 |
T886 |
T885 |
auxpass |
is,marked |
R5500 |
T8119 |
T8120 |
nummod |
20,mo |
R5501 |
T8120 |
T8122 |
npadvmod |
mo,old |
R5502 |
T8121 |
T8120 |
punct |
-,mo |
R5503 |
T8122 |
T8124 |
amod |
old,mice |
R5504 |
T8123 |
T8122 |
punct |
-,old |
R5505 |
T8124 |
T8118 |
pobj |
mice,of |
R5506 |
T8125 |
T8124 |
amod |
male,mice |
R5507 |
T8126 |
T8124 |
nmod |
wt,mice |
R5508 |
T8127 |
T8126 |
punct |
", ",wt |
R5509 |
T8128 |
T8129 |
compound |
XpdTTD,†XPCS |
R551 |
T887 |
T885 |
agent |
by,marked |
R5510 |
T8129 |
T8126 |
conj |
†XPCS,wt |
R5511 |
T8130 |
T8129 |
punct |
/,†XPCS |
R5512 |
T8131 |
T8129 |
punct |
", ",†XPCS |
R5513 |
T8132 |
T8129 |
cc |
and,†XPCS |
R5514 |
T8133 |
T8134 |
compound |
XpdTTD,TTD |
R5515 |
T8134 |
T8129 |
conj |
TTD,†XPCS |
R5516 |
T8135 |
T8134 |
punct |
/,TTD |
R5517 |
T8136 |
T8116 |
punct |
.,Radiographs |
R5518 |
T8138 |
T8139 |
amod |
Ageing,mice |
R5519 |
T8139 |
T8143 |
nsubj |
mice,develop |
R552 |
T888 |
T889 |
npadvmod |
sun,induced |
R5520 |
T8140 |
T8141 |
compound |
XpdTTD,TTD |
R5521 |
T8141 |
T8139 |
compound |
TTD,mice |
R5522 |
T8142 |
T8141 |
punct |
/,TTD |
R5523 |
T8144 |
T8143 |
dobj |
kyphosis,develop |
R5524 |
T8145 |
T8144 |
punct |
(,kyphosis |
R5525 |
T8146 |
T8144 |
appos |
curvature,kyphosis |
R5526 |
T8147 |
T8146 |
prep |
of,curvature |
R5527 |
T8148 |
T8149 |
det |
the,column |
R5528 |
T8149 |
T8147 |
pobj |
column,of |
R5529 |
T8150 |
T8149 |
amod |
spinal,column |
R553 |
T889 |
T891 |
amod |
induced,anomalies |
R5530 |
T8151 |
T8144 |
punct |
),kyphosis |
R5531 |
T8152 |
T8144 |
cc |
and,kyphosis |
R5532 |
T8153 |
T8144 |
conj |
reduction,kyphosis |
R5533 |
T8154 |
T8153 |
prep |
of,reduction |
R5534 |
T8155 |
T8156 |
compound |
bone,mineral |
R5535 |
T8156 |
T8157 |
compound |
mineral,density |
R5536 |
T8157 |
T8154 |
pobj |
density,of |
R5537 |
T8158 |
T8159 |
mark |
as,shown |
R5538 |
T8159 |
T8143 |
advcl |
shown,develop |
R5539 |
T8160 |
T8159 |
prep |
in,shown |
R554 |
T890 |
T889 |
punct |
-,induced |
R5540 |
T8161 |
T8162 |
det |
the,segment |
R5541 |
T8162 |
T8160 |
pobj |
segment,in |
R5542 |
T8163 |
T8164 |
quantmod |
6,8 |
R5543 |
T8164 |
T8162 |
nummod |
8,segment |
R5544 |
T8165 |
T8164 |
punct |
–,8 |
R5545 |
T8166 |
T8162 |
prep |
of,segment |
R5546 |
T8167 |
T8168 |
det |
the,vertebrae |
R5547 |
T8168 |
T8166 |
pobj |
vertebrae,of |
R5548 |
T8169 |
T8168 |
compound |
tail,vertebrae |
R5549 |
T8170 |
T8162 |
acl |
counted,segment |
R555 |
T891 |
T887 |
pobj |
anomalies,by |
R5550 |
T8171 |
T8170 |
prep |
from,counted |
R5551 |
T8172 |
T8173 |
det |
the,pelvis |
R5552 |
T8173 |
T8171 |
pobj |
pelvis,from |
R5553 |
T8174 |
T8175 |
punct |
(,see |
R5554 |
T8175 |
T8143 |
parataxis |
see,develop |
R5555 |
T8176 |
T8175 |
dobj |
close,see |
R5556 |
T8177 |
T8176 |
punct |
-,close |
R5557 |
T8178 |
T8176 |
prt |
up,close |
R5558 |
T8179 |
T8176 |
prep |
at,close |
R5559 |
T8180 |
T8179 |
pobj |
right,at |
R556 |
T892 |
T891 |
compound |
pigmentation,anomalies |
R5560 |
T8181 |
T8175 |
punct |
),see |
R5561 |
T8182 |
T8143 |
punct |
.,develop |
R5562 |
T8185 |
T8186 |
det |
the,absence |
R5563 |
T8186 |
T8184 |
dobj |
absence,Note |
R5564 |
T8187 |
T8186 |
prep |
of,absence |
R5565 |
T8188 |
T8189 |
det |
these,features |
R5566 |
T8189 |
T8187 |
pobj |
features,of |
R5567 |
T8190 |
T8186 |
prep |
in,absence |
R5568 |
T8191 |
T8192 |
det |
the,mouse |
R5569 |
T8192 |
T8190 |
pobj |
mouse,in |
R557 |
T893 |
T891 |
cc |
and,anomalies |
R5570 |
T8193 |
T8194 |
compound |
XpdTTD , † XPCS |
R5571 |
T8194 |
T8192 |
compound |
† XPCS,mouse |
R5572 |
T8195 |
T8194 |
punct |
/, † XPCS |
R5573 |
T8196 |
T8184 |
punct |
.,Note |
R5574 |
T8198 |
T8199 |
punct |
(,C |
R5575 |
T8199 |
T8200 |
meta |
C,Quantification |
R5576 |
T8201 |
T8199 |
punct |
),C |
R5577 |
T8202 |
T8200 |
prep |
of,Quantification |
R5578 |
T8203 |
T8204 |
amod |
relative,density |
R5579 |
T8204 |
T8202 |
pobj |
density,of |
R558 |
T894 |
T895 |
det |
a,elevation |
R5580 |
T8205 |
T8206 |
compound |
bone,mineral |
R5581 |
T8206 |
T8204 |
compound |
mineral,density |
R5582 |
T8207 |
T8204 |
prep |
of,density |
R5583 |
T8208 |
T8209 |
compound |
tail,vertebrae |
R5584 |
T8209 |
T8207 |
pobj |
vertebrae,of |
R5585 |
T8210 |
T8209 |
prep |
from,vertebrae |
R5586 |
T8211 |
T8212 |
nummod |
20,mo |
R5587 |
T8212 |
T8214 |
npadvmod |
mo,old |
R5588 |
T8213 |
T8212 |
punct |
-,mo |
R5589 |
T8214 |
T8216 |
amod |
old,mice |
R559 |
T895 |
T891 |
conj |
elevation,anomalies |
R5590 |
T8215 |
T8214 |
punct |
-,old |
R5591 |
T8216 |
T8210 |
pobj |
mice,from |
R5592 |
T8217 |
T8216 |
amod |
male,mice |
R5593 |
T8218 |
T8216 |
nmod |
wt,mice |
R5594 |
T8219 |
T8220 |
punct |
(,3 |
R5595 |
T8220 |
T8218 |
parataxis |
3,wt |
R5596 |
T8221 |
T8220 |
nsubj |
n,3 |
R5597 |
T8222 |
T8220 |
punct |
=,3 |
R5598 |
T8223 |
T8220 |
punct |
),3 |
R5599 |
T8224 |
T8218 |
punct |
", ",wt |
R560 |
T896 |
T897 |
amod |
greater,"1,000" |
R5600 |
T8225 |
T8226 |
compound |
XpdTTD,†XPCS |
R5601 |
T8226 |
T8218 |
conj |
†XPCS,wt |
R5602 |
T8227 |
T8226 |
punct |
/,†XPCS |
R5603 |
T8228 |
T8229 |
punct |
(,4 |
R5604 |
T8229 |
T8226 |
parataxis |
4,†XPCS |
R5605 |
T8230 |
T8229 |
nsubj |
n,4 |
R5606 |
T8231 |
T8229 |
punct |
=,4 |
R5607 |
T8232 |
T8229 |
punct |
),4 |
R5608 |
T8233 |
T8226 |
punct |
", ",†XPCS |
R5609 |
T8234 |
T8226 |
cc |
and,†XPCS |
R561 |
T897 |
T899 |
quantmod |
"1,000",fold |
R5610 |
T8235 |
T8236 |
compound |
XpdTTD,TTD |
R5611 |
T8236 |
T8226 |
conj |
TTD,†XPCS |
R5612 |
T8237 |
T8236 |
punct |
/,TTD |
R5613 |
T8238 |
T8239 |
punct |
(,3 |
R5614 |
T8239 |
T8236 |
parataxis |
3,TTD |
R5615 |
T8240 |
T8239 |
nsubj |
n,3 |
R5616 |
T8241 |
T8239 |
punct |
=,3 |
R5617 |
T8242 |
T8239 |
punct |
),3 |
R5618 |
T8243 |
T8200 |
punct |
.,Quantification |
R5619 |
T8245 |
T8246 |
det |
The,values |
R562 |
T898 |
T897 |
quantmod |
than,"1,000" |
R5620 |
T8246 |
T8249 |
nsubj |
values,indicate |
R5621 |
T8247 |
T8246 |
compound |
p,values |
R5622 |
T8248 |
T8246 |
punct |
-,values |
R5623 |
T8250 |
T8251 |
det |
the,significance |
R5624 |
T8251 |
T8249 |
dobj |
significance,indicate |
R5625 |
T8252 |
T8251 |
prep |
of,significance |
R5626 |
T8253 |
T8254 |
det |
the,difference |
R5627 |
T8254 |
T8252 |
pobj |
difference,of |
R5628 |
T8255 |
T8249 |
advcl |
relative,indicate |
R5629 |
T8256 |
T8255 |
prep |
to,relative |
R563 |
T899 |
T895 |
nummod |
fold,elevation |
R5630 |
T8257 |
T8258 |
compound |
XpdTTD,TTD |
R5631 |
T8258 |
T8256 |
pobj |
TTD,to |
R5632 |
T8259 |
T8258 |
punct |
/,TTD |
R5633 |
T8260 |
T8249 |
punct |
.,indicate |
R5634 |
T8262 |
T8263 |
compound |
Error,bars |
R5635 |
T8263 |
T8264 |
nsubj |
bars,indicate |
R5636 |
T8265 |
T8264 |
dobj |
SEM,indicate |
R5637 |
T8266 |
T8264 |
punct |
.,indicate |
R5638 |
T8268 |
T8269 |
punct |
(,D |
R5639 |
T8269 |
T8270 |
meta |
D,curves |
R564 |
T900 |
T899 |
punct |
-,fold |
R5640 |
T8271 |
T8269 |
punct |
),D |
R5641 |
T8272 |
T8273 |
compound |
Body,weight |
R5642 |
T8273 |
T8270 |
compound |
weight,curves |
R5643 |
T8274 |
T8270 |
prep |
as,curves |
R5644 |
T8275 |
T8276 |
det |
a,function |
R5645 |
T8276 |
T8274 |
pobj |
function,as |
R5646 |
T8277 |
T8276 |
prep |
of,function |
R5647 |
T8278 |
T8277 |
pobj |
time,of |
R5648 |
T8279 |
T8270 |
punct |
.,curves |
R5649 |
T8282 |
T8283 |
mark |
that,rescued |
R565 |
T901 |
T895 |
prep |
in,elevation |
R5650 |
T8283 |
T8281 |
ccomp |
rescued,Note |
R5651 |
T8284 |
T8285 |
det |
the,cachexia |
R5652 |
T8285 |
T8283 |
nsubjpass |
cachexia,rescued |
R5653 |
T8286 |
T8287 |
npadvmod |
age,dependent |
R5654 |
T8287 |
T8285 |
amod |
dependent,cachexia |
R5655 |
T8288 |
T8287 |
punct |
-,dependent |
R5656 |
T8289 |
T8285 |
acl |
observed,cachexia |
R5657 |
T8290 |
T8289 |
prep |
in,observed |
R5658 |
T8291 |
T8292 |
compound |
XpdTTD,TTD |
R5659 |
T8292 |
T8294 |
compound |
TTD,mice |
R566 |
T902 |
T903 |
compound |
skin,cancer |
R5660 |
T8293 |
T8292 |
punct |
/,TTD |
R5661 |
T8294 |
T8290 |
pobj |
mice,in |
R5662 |
T8295 |
T8283 |
auxpass |
was,rescued |
R5663 |
T8296 |
T8283 |
prep |
in,rescued |
R5664 |
T8297 |
T8298 |
preconj |
both,male |
R5665 |
T8298 |
T8299 |
nmod |
male,mice |
R5666 |
T8299 |
T8296 |
pobj |
mice,in |
R5667 |
T8300 |
T8298 |
cc |
and,male |
R5668 |
T8301 |
T8298 |
conj |
female,male |
R5669 |
T8302 |
T8303 |
compound |
XpdTTD , †XPCS |
R567 |
T903 |
T904 |
compound |
cancer,risk |
R5670 |
T8303 |
T8299 |
compound |
†XPCS,mice |
R5671 |
T8304 |
T8303 |
punct |
/, †XPCS |
R5672 |
T8305 |
T8281 |
punct |
.,Note |
R5673 |
T8307 |
T8308 |
amod |
Significant,differences |
R5674 |
T8308 |
T8309 |
nsubjpass |
differences,observed |
R5675 |
T8310 |
T8308 |
prep |
between,differences |
R5676 |
T8311 |
T8310 |
pobj |
wt,between |
R5677 |
T8312 |
T8311 |
cc |
and,wt |
R5678 |
T8313 |
T8314 |
compound |
XpdTTD,TTD |
R5679 |
T8314 |
T8311 |
conj |
TTD,wt |
R568 |
T904 |
T901 |
pobj |
risk,in |
R5680 |
T8315 |
T8314 |
punct |
/,TTD |
R5681 |
T8316 |
T8310 |
cc |
but,between |
R5682 |
T8317 |
T8316 |
neg |
not,but |
R5683 |
T8318 |
T8310 |
conj |
between,between |
R5684 |
T8319 |
T8320 |
nmod |
wt,mice |
R5685 |
T8320 |
T8318 |
pobj |
mice,between |
R5686 |
T8321 |
T8319 |
cc |
and,wt |
R5687 |
T8322 |
T8323 |
compound |
XpdTTD,†XPCS |
R5688 |
T8323 |
T8319 |
conj |
†XPCS,wt |
R5689 |
T8324 |
T8323 |
punct |
/,†XPCS |
R569 |
T905 |
T885 |
punct |
.,marked |
R5690 |
T8325 |
T8309 |
auxpass |
were,observed |
R5691 |
T8326 |
T8309 |
prep |
at,observed |
R5692 |
T8327 |
T8328 |
nummod |
9,mo |
R5693 |
T8328 |
T8326 |
pobj |
mo,at |
R5694 |
T8329 |
T8327 |
cc |
and,9 |
R5695 |
T8330 |
T8327 |
conj |
18,9 |
R5696 |
T8331 |
T8328 |
prep |
of,mo |
R5697 |
T8332 |
T8331 |
pobj |
age,of |
R5698 |
T8333 |
T8334 |
mark |
as,indicated |
R5699 |
T8334 |
T8309 |
advcl |
indicated,observed |
R570 |
T907 |
T908 |
amod |
Severe,cases |
R5700 |
T8335 |
T8334 |
agent |
by,indicated |
R5701 |
T8336 |
T8335 |
pobj |
asterisks,by |
R5702 |
T8337 |
T8309 |
punct |
.,observed |
R5703 |
T8339 |
T8340 |
compound |
Error,bars |
R5704 |
T8340 |
T8341 |
nsubj |
bars,indicate |
R5705 |
T8342 |
T8341 |
dobj |
SEM,indicate |
R5706 |
T8343 |
T8341 |
punct |
.,indicate |
R5707 |
T8564 |
T8565 |
compound |
TFIIH,Functions |
R5708 |
T8566 |
T8565 |
cc |
and,Functions |
R5709 |
T8567 |
T8565 |
conj |
Mechanisms,Functions |
R571 |
T908 |
T909 |
nsubj |
cases,present |
R5710 |
T8568 |
T8567 |
prep |
of,Mechanisms |
R5711 |
T8569 |
T8570 |
npadvmod |
XPD,Associated |
R5712 |
T8570 |
T8572 |
amod |
Associated,Pleiotropy |
R5713 |
T8571 |
T8570 |
punct |
-,Associated |
R5714 |
T8572 |
T8568 |
pobj |
Pleiotropy,of |
R5715 |
T8573 |
T8572 |
compound |
Disease,Pleiotropy |
R5716 |
T8575 |
T8576 |
punct |
(,A |
R5717 |
T8576 |
T8577 |
meta |
A,survival |
R5718 |
T8578 |
T8576 |
punct |
),A |
R5719 |
T8579 |
T8577 |
amod |
Cellular,survival |
R572 |
T910 |
T909 |
aux |
can,present |
R5720 |
T8580 |
T8577 |
prep |
after,survival |
R5721 |
T8581 |
T8582 |
compound |
UV,irradiation |
R5722 |
T8582 |
T8580 |
pobj |
irradiation,after |
R5723 |
T8583 |
T8577 |
punct |
.,survival |
R5724 |
T8585 |
T8586 |
nsubjpass |
Rescue,illustrated |
R5725 |
T8587 |
T8585 |
prep |
of,Rescue |
R5726 |
T8588 |
T8589 |
amod |
hemizygous,survival |
R5727 |
T8589 |
T8587 |
pobj |
survival,of |
R5728 |
T8590 |
T8591 |
compound |
XpdTTD,KO |
R5729 |
T8591 |
T8589 |
compound |
KO,survival |
R573 |
T911 |
T909 |
advmod |
also,present |
R5730 |
T8592 |
T8591 |
punct |
/,KO |
R5731 |
T8593 |
T8585 |
prep |
by,Rescue |
R5732 |
T8594 |
T8595 |
nmod |
Xpd†XPCS,alleles |
R5733 |
T8595 |
T8593 |
pobj |
alleles,by |
R5734 |
T8596 |
T8594 |
cc |
and,Xpd†XPCS |
R5735 |
T8597 |
T8594 |
conj |
Xpd†XP,Xpd†XPCS |
R5736 |
T8598 |
T8586 |
auxpass |
is,illustrated |
R5737 |
T8599 |
T8586 |
agent |
by,illustrated |
R5738 |
T8600 |
T8599 |
pobj |
arrows,by |
R5739 |
T8601 |
T8600 |
acl |
marked,arrows |
R574 |
T912 |
T909 |
prep |
with,present |
R5740 |
T8602 |
T8601 |
oprd |
A,marked |
R5741 |
T8603 |
T8602 |
cc |
and,A |
R5742 |
T8604 |
T8602 |
conj |
B,A |
R5743 |
T8605 |
T8601 |
punct |
", ",marked |
R5744 |
T8606 |
T8601 |
advmod |
respectively,marked |
R5745 |
T8607 |
T8586 |
punct |
.,illustrated |
R5746 |
T8609 |
T8610 |
compound |
UV,survival |
R5747 |
T8610 |
T8611 |
nsubjpass |
survival,depicted |
R5748 |
T8612 |
T8610 |
prep |
of,survival |
R5749 |
T8613 |
T8614 |
amod |
homozygous,cells |
R575 |
T913 |
T914 |
compound |
growth,retardation |
R5750 |
T8614 |
T8612 |
pobj |
cells,of |
R5751 |
T8615 |
T8616 |
compound |
XpdXPCS,XPCS |
R5752 |
T8616 |
T8614 |
compound |
XPCS,cells |
R5753 |
T8617 |
T8616 |
punct |
/,XPCS |
R5754 |
T8618 |
T8619 |
punct |
(,asterisk |
R5755 |
T8619 |
T8614 |
parataxis |
asterisk,cells |
R5756 |
T8620 |
T8619 |
punct |
),asterisk |
R5757 |
T8621 |
T8614 |
prep |
from,cells |
R5758 |
T8622 |
T8623 |
det |
the,allele |
R5759 |
T8623 |
T8621 |
pobj |
allele,from |
R576 |
T914 |
T912 |
pobj |
retardation,with |
R5760 |
T8624 |
T8625 |
advmod |
normally,expressed |
R5761 |
T8625 |
T8623 |
amod |
expressed,allele |
R5762 |
T8626 |
T8623 |
amod |
viable,allele |
R5763 |
T8627 |
T8628 |
punct |
(,XpdXPCS |
R5764 |
T8628 |
T8623 |
parataxis |
XpdXPCS,allele |
R5765 |
T8629 |
T8628 |
punct |
),XpdXPCS |
R5766 |
T8630 |
T8611 |
auxpass |
is,depicted |
R5767 |
T8631 |
T8611 |
prep |
by,depicted |
R5768 |
T8632 |
T8633 |
det |
a,line |
R5769 |
T8633 |
T8631 |
pobj |
line,by |
R577 |
T915 |
T914 |
cc |
and,retardation |
R5770 |
T8634 |
T8633 |
amod |
dotted,line |
R5771 |
T8635 |
T8611 |
punct |
.,depicted |
R5772 |
T8637 |
T8638 |
compound |
Survival,curves |
R5773 |
T8638 |
T8639 |
nsubj |
curves,represent |
R5774 |
T8639 |
T8640 |
ccomp |
represent,included |
R5775 |
T8641 |
T8642 |
det |
an,average |
R5776 |
T8642 |
T8639 |
dobj |
average,represent |
R5777 |
T8643 |
T8642 |
prep |
of,average |
R5778 |
T8644 |
T8645 |
nummod |
four,experiments |
R5779 |
T8645 |
T8643 |
pobj |
experiments,of |
R578 |
T916 |
T917 |
amod |
primary,neurodegeneration |
R5780 |
T8646 |
T8645 |
amod |
independent,experiments |
R5781 |
T8647 |
T8640 |
punct |
;,included |
R5782 |
T8648 |
T8649 |
quantmod |
1,2 |
R5783 |
T8649 |
T8651 |
nummod |
2,lines |
R5784 |
T8650 |
T8649 |
punct |
–,2 |
R5785 |
T8651 |
T8640 |
nsubjpass |
lines,included |
R5786 |
T8652 |
T8651 |
compound |
cell,lines |
R5787 |
T8653 |
T8651 |
prep |
per,lines |
R5788 |
T8654 |
T8653 |
pobj |
genotype,per |
R5789 |
T8655 |
T8640 |
auxpass |
were,included |
R579 |
T917 |
T914 |
conj |
neurodegeneration,retardation |
R5790 |
T8656 |
T8640 |
prep |
in,included |
R5791 |
T8657 |
T8658 |
det |
each,experiment |
R5792 |
T8658 |
T8656 |
pobj |
experiment,in |
R5793 |
T8659 |
T8640 |
punct |
.,included |
R5794 |
T8661 |
T8662 |
compound |
Error,bars |
R5795 |
T8662 |
T8663 |
nsubj |
bars,indicate |
R5796 |
T8664 |
T8663 |
dobj |
SEM,indicate |
R5797 |
T8665 |
T8664 |
prep |
between,SEM |
R5798 |
T8666 |
T8665 |
pobj |
experiments,between |
R5799 |
T8667 |
T8663 |
punct |
.,indicate |
R580 |
T918 |
T919 |
punct |
[,11 |
R5800 |
T8669 |
T8670 |
punct |
(,B |
R5801 |
T8670 |
T8671 |
meta |
B,UDS |
R5802 |
T8672 |
T8670 |
punct |
),B |
R5803 |
T8673 |
T8671 |
compound |
UV,UDS |
R5804 |
T8674 |
T8671 |
punct |
-,UDS |
R5805 |
T8675 |
T8671 |
punct |
", ",UDS |
R5806 |
T8676 |
T8677 |
det |
a,measure |
R5807 |
T8677 |
T8671 |
appos |
measure,UDS |
R5808 |
T8678 |
T8677 |
prep |
of,measure |
R5809 |
T8679 |
T8680 |
amod |
global,repair |
R581 |
T919 |
T909 |
parataxis |
11,present |
R5810 |
T8680 |
T8678 |
pobj |
repair,of |
R5811 |
T8681 |
T8680 |
compound |
genome,repair |
R5812 |
T8682 |
T8671 |
punct |
.,UDS |
R5813 |
T8684 |
T8685 |
dep |
Number,included |
R5814 |
T8686 |
T8684 |
prep |
of,Number |
R5815 |
T8687 |
T8686 |
pobj |
experiments,of |
R5816 |
T8688 |
T8685 |
punct |
: ,included |
R5817 |
T8689 |
T8690 |
nsubj |
n,15 |
R5818 |
T8690 |
T8685 |
ccomp |
15,included |
R5819 |
T8691 |
T8690 |
punct |
=,15 |
R582 |
T920 |
T919 |
punct |
],11 |
R5820 |
T8692 |
T8693 |
punct |
(,XpdTTD |
R5821 |
T8693 |
T8690 |
parataxis |
XpdTTD,15 |
R5822 |
T8694 |
T8693 |
punct |
/,XpdTTD |
R5823 |
T8695 |
T8693 |
dep |
TTD,XpdTTD |
R5824 |
T8696 |
T8693 |
punct |
),XpdTTD |
R5825 |
T8697 |
T8685 |
punct |
", ",included |
R5826 |
T8698 |
T8699 |
nsubj |
n,6 |
R5827 |
T8699 |
T8685 |
ccomp |
6,included |
R5828 |
T8700 |
T8699 |
punct |
=,6 |
R5829 |
T8701 |
T8702 |
punct |
(,KO |
R583 |
T921 |
T909 |
punct |
.,present |
R5830 |
T8702 |
T8699 |
parataxis |
KO,6 |
R5831 |
T8703 |
T8702 |
compound |
XpdTTD,KO |
R5832 |
T8704 |
T8702 |
punct |
/,KO |
R5833 |
T8705 |
T8702 |
punct |
),KO |
R5834 |
T8706 |
T8685 |
punct |
", ",included |
R5835 |
T8707 |
T8708 |
nsubj |
n,4 |
R5836 |
T8708 |
T8685 |
ccomp |
4,included |
R5837 |
T8709 |
T8708 |
punct |
=,4 |
R5838 |
T8710 |
T8711 |
punct |
(,†XPCS |
R5839 |
T8711 |
T8708 |
parataxis |
†XPCS,4 |
R584 |
T923 |
T924 |
nsubj |
CS,are |
R5840 |
T8712 |
T8711 |
compound |
XpdTTD,†XPCS |
R5841 |
T8713 |
T8711 |
punct |
/,†XPCS |
R5842 |
T8714 |
T8711 |
punct |
),†XPCS |
R5843 |
T8715 |
T8685 |
punct |
", ",included |
R5844 |
T8716 |
T8717 |
nsubj |
n,2 |
R5845 |
T8717 |
T8685 |
ccomp |
2,included |
R5846 |
T8718 |
T8717 |
punct |
=,2 |
R5847 |
T8719 |
T8720 |
punct |
(,†XP |
R5848 |
T8720 |
T8717 |
parataxis |
†XP,2 |
R5849 |
T8721 |
T8720 |
compound |
XpdTTD,†XP |
R585 |
T925 |
T923 |
cc |
and,CS |
R5850 |
T8722 |
T8720 |
punct |
/,†XP |
R5851 |
T8723 |
T8720 |
punct |
),†XP |
R5852 |
T8724 |
T8685 |
punct |
;,included |
R5853 |
T8725 |
T8726 |
quantmod |
1,2 |
R5854 |
T8726 |
T8728 |
nummod |
2,lines |
R5855 |
T8727 |
T8726 |
punct |
–,2 |
R5856 |
T8728 |
T8685 |
nsubjpass |
lines,included |
R5857 |
T8729 |
T8728 |
compound |
cell,lines |
R5858 |
T8730 |
T8728 |
prep |
per,lines |
R5859 |
T8731 |
T8730 |
pobj |
genotype,per |
R586 |
T926 |
T923 |
conj |
TTD,CS |
R5860 |
T8732 |
T8685 |
auxpass |
were,included |
R5861 |
T8733 |
T8685 |
prep |
in,included |
R5862 |
T8734 |
T8735 |
det |
each,experiment |
R5863 |
T8735 |
T8733 |
pobj |
experiment,in |
R5864 |
T8736 |
T8685 |
punct |
.,included |
R5865 |
T8738 |
T8739 |
det |
The,asterisk |
R5866 |
T8739 |
T8740 |
nsubj |
asterisk,indicates |
R5867 |
T8740 |
T8741 |
ccomp |
indicates,indicate |
R5868 |
T8742 |
T8743 |
amod |
significant,difference |
R5869 |
T8743 |
T8740 |
dobj |
difference,indicates |
R587 |
T927 |
T924 |
punct |
", ",are |
R5870 |
T8744 |
T8743 |
prep |
with,difference |
R5871 |
T8745 |
T8746 |
compound |
XpdTTD,TTD |
R5872 |
T8746 |
T8744 |
pobj |
TTD,with |
R5873 |
T8747 |
T8746 |
punct |
/,TTD |
R5874 |
T8748 |
T8741 |
punct |
;,indicate |
R5875 |
T8749 |
T8741 |
nsubj |
crosses,indicate |
R5876 |
T8750 |
T8751 |
amod |
significant,differences |
R5877 |
T8751 |
T8741 |
dobj |
differences,indicate |
R5878 |
T8752 |
T8751 |
prep |
with,differences |
R5879 |
T8753 |
T8754 |
compound |
XpdTTD,KO |
R588 |
T928 |
T924 |
prep |
on,are |
R5880 |
T8754 |
T8752 |
pobj |
KO,with |
R5881 |
T8755 |
T8754 |
punct |
/,KO |
R5882 |
T8756 |
T8741 |
punct |
.,indicate |
R5883 |
T8758 |
T8759 |
punct |
(,C |
R5884 |
T8759 |
T8760 |
meta |
C,RRS |
R5885 |
T8761 |
T8759 |
punct |
),C |
R5886 |
T8762 |
T8760 |
compound |
UV,RRS |
R5887 |
T8763 |
T8760 |
punct |
-,RRS |
R5888 |
T8764 |
T8760 |
punct |
", ",RRS |
R5889 |
T8765 |
T8766 |
det |
a,measure |
R589 |
T929 |
T930 |
det |
the,hand |
R5890 |
T8766 |
T8760 |
appos |
measure,RRS |
R5891 |
T8767 |
T8766 |
prep |
of,measure |
R5892 |
T8768 |
T8769 |
npadvmod |
transcription,coupled |
R5893 |
T8769 |
T8771 |
amod |
coupled,repair |
R5894 |
T8770 |
T8769 |
punct |
-,coupled |
R5895 |
T8771 |
T8767 |
pobj |
repair,of |
R5896 |
T8772 |
T8771 |
prep |
of,repair |
R5897 |
T8773 |
T8774 |
npadvmod |
UV,induced |
R5898 |
T8774 |
T8776 |
amod |
induced,lesions |
R5899 |
T8775 |
T8774 |
punct |
-,induced |
R590 |
T930 |
T928 |
pobj |
hand,on |
R5900 |
T8776 |
T8772 |
pobj |
lesions,of |
R5901 |
T8777 |
T8760 |
punct |
.,RRS |
R5902 |
T8779 |
T8780 |
dep |
Number,included |
R5903 |
T8781 |
T8779 |
prep |
of,Number |
R5904 |
T8782 |
T8781 |
pobj |
experiments,of |
R5905 |
T8783 |
T8780 |
punct |
: ,included |
R5906 |
T8784 |
T8785 |
nsubj |
n,7 |
R5907 |
T8785 |
T8780 |
ccomp |
7,included |
R5908 |
T8786 |
T8785 |
punct |
=,7 |
R5909 |
T8787 |
T8788 |
punct |
(,TTD |
R591 |
T931 |
T930 |
amod |
other,hand |
R5910 |
T8788 |
T8785 |
parataxis |
TTD,7 |
R5911 |
T8789 |
T8788 |
compound |
XpdTTD,TTD |
R5912 |
T8790 |
T8788 |
punct |
/,TTD |
R5913 |
T8791 |
T8788 |
punct |
),TTD |
R5914 |
T8792 |
T8780 |
punct |
", ",included |
R5915 |
T8793 |
T8794 |
nsubj |
n,2 |
R5916 |
T8794 |
T8780 |
ccomp |
2,included |
R5917 |
T8795 |
T8794 |
punct |
=,2 |
R5918 |
T8796 |
T8797 |
punct |
(,KO |
R5919 |
T8797 |
T8794 |
parataxis |
KO,2 |
R592 |
T932 |
T924 |
punct |
", ",are |
R5920 |
T8798 |
T8797 |
compound |
XpdTTD,KO |
R5921 |
T8799 |
T8797 |
punct |
/,KO |
R5922 |
T8800 |
T8797 |
punct |
),KO |
R5923 |
T8801 |
T8780 |
punct |
", ",included |
R5924 |
T8802 |
T8803 |
nsubj |
n,4 |
R5925 |
T8803 |
T8780 |
ccomp |
4,included |
R5926 |
T8804 |
T8803 |
punct |
=,4 |
R5927 |
T8805 |
T8806 |
punct |
(,†XPCS |
R5928 |
T8806 |
T8803 |
parataxis |
†XPCS,4 |
R5929 |
T8807 |
T8806 |
compound |
XpdTTD,†XPCS |
R593 |
T933 |
T934 |
amod |
segmental,disorders |
R5930 |
T8808 |
T8806 |
punct |
/,†XPCS |
R5931 |
T8809 |
T8806 |
punct |
),†XPCS |
R5932 |
T8810 |
T8780 |
punct |
", ",included |
R5933 |
T8811 |
T8812 |
nsubj |
n,2 |
R5934 |
T8812 |
T8780 |
ccomp |
2,included |
R5935 |
T8813 |
T8812 |
punct |
=,2 |
R5936 |
T8814 |
T8815 |
punct |
(,†XP |
R5937 |
T8815 |
T8812 |
parataxis |
†XP,2 |
R5938 |
T8816 |
T8815 |
compound |
XpdTTD,†XP |
R5939 |
T8817 |
T8815 |
punct |
/,†XP |
R594 |
T934 |
T924 |
attr |
disorders,are |
R5940 |
T8818 |
T8815 |
punct |
),†XP |
R5941 |
T8819 |
T8780 |
punct |
;,included |
R5942 |
T8820 |
T8821 |
quantmod |
1,2 |
R5943 |
T8821 |
T8823 |
nummod |
2,lines |
R5944 |
T8822 |
T8821 |
punct |
–,2 |
R5945 |
T8823 |
T8780 |
nsubjpass |
lines,included |
R5946 |
T8824 |
T8823 |
compound |
cell,lines |
R5947 |
T8825 |
T8823 |
prep |
per,lines |
R5948 |
T8826 |
T8825 |
pobj |
genotype,per |
R5949 |
T8827 |
T8780 |
auxpass |
were,included |
R595 |
T935 |
T934 |
amod |
progeroid,disorders |
R5950 |
T8828 |
T8780 |
prep |
in,included |
R5951 |
T8829 |
T8830 |
det |
each,experiment |
R5952 |
T8830 |
T8828 |
pobj |
experiment,in |
R5953 |
T8831 |
T8780 |
punct |
.,included |
R5954 |
T8833 |
T8834 |
punct |
(,D |
R5955 |
T8834 |
T8835 |
meta |
D,activity |
R5956 |
T8836 |
T8834 |
punct |
),D |
R5957 |
T8837 |
T8838 |
compound |
Incision,excision |
R5958 |
T8838 |
T8835 |
compound |
excision,activity |
R5959 |
T8839 |
T8838 |
punct |
/,excision |
R596 |
T936 |
T934 |
acl |
characterised,disorders |
R5960 |
T8840 |
T8835 |
prep |
of,activity |
R5961 |
T8841 |
T8840 |
pobj |
combinations,of |
R5962 |
T8842 |
T8841 |
prep |
of,combinations |
R5963 |
T8843 |
T8844 |
amod |
altered,complexes |
R5964 |
T8844 |
T8842 |
pobj |
complexes,of |
R5965 |
T8845 |
T8844 |
compound |
TFIIH,complexes |
R5966 |
T8846 |
T8844 |
prep |
in,complexes |
R5967 |
T8847 |
T8848 |
det |
a,reaction |
R5968 |
T8848 |
T8846 |
pobj |
reaction,in |
R5969 |
T8849 |
T8848 |
amod |
reconstituted,reaction |
R597 |
T937 |
T936 |
agent |
by,characterised |
R5970 |
T8850 |
T8848 |
compound |
NER,reaction |
R5971 |
T8851 |
T8835 |
punct |
.,activity |
R5972 |
T8853 |
T8854 |
amod |
Equal,amounts |
R5973 |
T8854 |
T8855 |
nsubjpass |
amounts,mixed |
R5974 |
T8856 |
T8854 |
prep |
of,amounts |
R5975 |
T8857 |
T8858 |
amod |
single,populations |
R5976 |
T8858 |
T8856 |
pobj |
populations,of |
R5977 |
T8859 |
T8857 |
cc |
or,single |
R5978 |
T8860 |
T8857 |
conj |
mixed,single |
R5979 |
T8861 |
T8858 |
prep |
of,populations |
R598 |
T938 |
T939 |
amod |
progressive,failure |
R5980 |
T8862 |
T8863 |
amod |
recombinant,TFIIHs |
R5981 |
T8863 |
T8861 |
pobj |
TFIIHs,of |
R5982 |
T8864 |
T8858 |
punct |
(,populations |
R5983 |
T8865 |
T8858 |
acl |
containing,populations |
R5984 |
T8866 |
T8865 |
dobj |
XPD,containing |
R5985 |
T8867 |
T8866 |
punct |
", ",XPD |
R5986 |
T8868 |
T8866 |
conj |
XPB,XPD |
R5987 |
T8869 |
T8868 |
punct |
", ",XPB |
R5988 |
T8870 |
T8868 |
conj |
p62,XPB |
R5989 |
T8871 |
T8870 |
punct |
", ",p62 |
R599 |
T939 |
T937 |
pobj |
failure,by |
R5990 |
T8872 |
T8870 |
conj |
p52,p62 |
R5991 |
T8873 |
T8872 |
punct |
", ",p52 |
R5992 |
T8874 |
T8875 |
compound |
His,p44 |
R5993 |
T8875 |
T8872 |
conj |
p44,p52 |
R5994 |
T8876 |
T8875 |
punct |
-,p44 |
R5995 |
T8877 |
T8875 |
punct |
", ",p44 |
R5996 |
T8878 |
T8879 |
compound |
Flag,p34 |
R5997 |
T8879 |
T8875 |
conj |
p34,p44 |
R5998 |
T8880 |
T8879 |
punct |
-,p34 |
R5999 |
T8881 |
T8879 |
punct |
", ",p34 |
R600 |
T940 |
T939 |
amod |
post-natal,failure |
R6000 |
T8882 |
T8879 |
conj |
cdk7,p34 |
R6001 |
T8883 |
T8882 |
punct |
", ",cdk7 |
R6002 |
T8884 |
T8885 |
compound |
cyclin,H |
R6003 |
T8885 |
T8882 |
conj |
H,cdk7 |
R6004 |
T8886 |
T8885 |
punct |
", ",H |
R6005 |
T8887 |
T8885 |
conj |
Mat1,H |
R6006 |
T8888 |
T8887 |
punct |
", ",Mat1 |
R6007 |
T8889 |
T8887 |
cc |
and,Mat1 |
R6008 |
T8890 |
T8887 |
conj |
p8,Mat1 |
R6009 |
T8891 |
T8855 |
punct |
),mixed |
R601 |
T941 |
T939 |
compound |
growth,failure |
R6010 |
T8892 |
T8855 |
auxpass |
were,mixed |
R6011 |
T8893 |
T8855 |
prep |
with,mixed |
R6012 |
T8894 |
T8895 |
amod |
recombinant,XPG |
R6013 |
T8895 |
T8893 |
pobj |
XPG,with |
R6014 |
T8896 |
T8895 |
punct |
", ",XPG |
R6015 |
T8897 |
T8898 |
compound |
XPF,ERCC1 |
R6016 |
T8898 |
T8895 |
appos |
ERCC1,XPG |
R6017 |
T8899 |
T8898 |
punct |
/,ERCC1 |
R6018 |
T8900 |
T8895 |
punct |
", ",XPG |
R6019 |
T8901 |
T8902 |
compound |
XPC,hHR23B |
R602 |
T942 |
T939 |
cc |
and,failure |
R6020 |
T8902 |
T8895 |
appos |
hHR23B,XPG |
R6021 |
T8903 |
T8902 |
punct |
/,hHR23B |
R6022 |
T8904 |
T8895 |
punct |
", ",XPG |
R6023 |
T8905 |
T8895 |
appos |
RPA,XPG |
R6024 |
T8906 |
T8895 |
punct |
", ",XPG |
R6025 |
T8907 |
T8895 |
cc |
and,XPG |
R6026 |
T8908 |
T8909 |
det |
a,substrate |
R6027 |
T8909 |
T8895 |
conj |
substrate,XPG |
R6028 |
T8910 |
T8909 |
amod |
radiolabelled,substrate |
R6029 |
T8911 |
T8909 |
amod |
synthetic,substrate |
R603 |
T943 |
T944 |
amod |
primary,demyelination |
R6030 |
T8912 |
T8909 |
compound |
NER,substrate |
R6031 |
T8913 |
T8855 |
punct |
.,mixed |
R6032 |
T8915 |
T8916 |
det |
The,products |
R6033 |
T8916 |
T8918 |
nsubjpass |
products,visualised |
R6034 |
T8917 |
T8916 |
compound |
excision,products |
R6035 |
T8919 |
T8920 |
punct |
(,nucleotides |
R6036 |
T8920 |
T8916 |
parataxis |
nucleotides,products |
R6037 |
T8921 |
T8922 |
quantmod |
26,34 |
R6038 |
T8922 |
T8920 |
nummod |
34,nucleotides |
R6039 |
T8923 |
T8922 |
punct |
–,34 |
R604 |
T944 |
T939 |
conj |
demyelination,failure |
R6040 |
T8924 |
T8920 |
prep |
in,nucleotides |
R6041 |
T8925 |
T8924 |
pobj |
length,in |
R6042 |
T8926 |
T8920 |
punct |
),nucleotides |
R6043 |
T8927 |
T8918 |
auxpass |
were,visualised |
R6044 |
T8928 |
T8918 |
prep |
at,visualised |
R6045 |
T8929 |
T8930 |
compound |
nucleotide,resolution |
R6046 |
T8930 |
T8928 |
pobj |
resolution,at |
R6047 |
T8931 |
T8918 |
prep |
on,visualised |
R6048 |
T8932 |
T8933 |
det |
a,gel |
R6049 |
T8933 |
T8931 |
pobj |
gel,on |
R605 |
T945 |
T944 |
acl |
resulting,demyelination |
R6050 |
T8934 |
T8933 |
amod |
denaturing,gel |
R6051 |
T8935 |
T8933 |
compound |
polyacrylamide,gel |
R6052 |
T8936 |
T8937 |
mark |
as,indicated |
R6053 |
T8937 |
T8918 |
advcl |
indicated,visualised |
R6054 |
T8938 |
T8918 |
punct |
.,visualised |
R6055 |
T8941 |
T8942 |
det |
the,activity |
R6056 |
T8942 |
T8940 |
dobj |
activity,Note |
R6057 |
T8943 |
T8942 |
amod |
weak,activity |
R6058 |
T8944 |
T8942 |
acl |
corresponding,activity |
R6059 |
T8945 |
T8944 |
prep |
to,corresponding |
R606 |
T946 |
T945 |
prep |
in,resulting |
R6060 |
T8946 |
T8947 |
det |
each,complex |
R6061 |
T8947 |
T8945 |
pobj |
complex,to |
R6062 |
T8948 |
T8947 |
amod |
single,complex |
R6063 |
T8949 |
T8948 |
cc |
and,single |
R6064 |
T8950 |
T8948 |
conj |
combined,single |
R6065 |
T8951 |
T8947 |
compound |
TFIIH,complex |
R6066 |
T8952 |
T8953 |
punct |
(,3 |
R6067 |
T8953 |
T8947 |
parataxis |
3,complex |
R6068 |
T8954 |
T8953 |
nmod |
lanes,3 |
R6069 |
T8955 |
T8956 |
punct |
–,8 |
R607 |
T947 |
T948 |
amod |
severe,neurodysfunction |
R6070 |
T8956 |
T8953 |
prep |
8,3 |
R6071 |
T8957 |
T8953 |
punct |
),3 |
R6072 |
T8958 |
T8944 |
advcl |
relative,corresponding |
R6073 |
T8959 |
T8958 |
prep |
to,relative |
R6074 |
T8960 |
T8961 |
det |
the,wt |
R6075 |
T8961 |
T8959 |
pobj |
wt,to |
R6076 |
T8962 |
T8963 |
punct |
(,lane |
R6077 |
T8963 |
T8961 |
parataxis |
lane,wt |
R6078 |
T8964 |
T8963 |
nummod |
1,lane |
R6079 |
T8965 |
T8963 |
punct |
),lane |
R608 |
T948 |
T946 |
pobj |
neurodysfunction,in |
R6080 |
T8966 |
T8961 |
cc |
and,wt |
R6081 |
T8967 |
T8968 |
amod |
negative,controls |
R6082 |
T8968 |
T8961 |
conj |
controls,wt |
R6083 |
T8969 |
T8970 |
punct |
(,lane |
R6084 |
T8970 |
T8968 |
parataxis |
lane,controls |
R6085 |
T8971 |
T8970 |
nummod |
2,lane |
R6086 |
T8972 |
T8970 |
punct |
),lane |
R6087 |
T8973 |
T8940 |
punct |
.,Note |
R6088 |
T8975 |
T8976 |
punct |
(,E |
R6089 |
T8976 |
T8977 |
meta |
E,reduction |
R609 |
T949 |
T924 |
punct |
", ",are |
R6090 |
T8978 |
T8976 |
punct |
),E |
R6091 |
T8979 |
T8977 |
nmod |
Xpd,reduction |
R6092 |
T8980 |
T8981 |
npadvmod |
dose,dependent |
R6093 |
T8981 |
T8977 |
amod |
dependent,reduction |
R6094 |
T8982 |
T8981 |
punct |
-,dependent |
R6095 |
T8983 |
T8977 |
prep |
of,reduction |
R6096 |
T8984 |
T8983 |
pobj |
TFIIH,of |
R6097 |
T8985 |
T8977 |
prep |
in,reduction |
R6098 |
T8986 |
T8987 |
amod |
homozygous,TTD |
R6099 |
T8987 |
T8990 |
nmod |
TTD,cells |
R610 |
T950 |
T951 |
cc |
but,without |
R6100 |
T8988 |
T8987 |
nmod |
XpdTTD,TTD |
R6101 |
T8989 |
T8987 |
punct |
/,TTD |
R6102 |
T8990 |
T8985 |
pobj |
cells,in |
R6103 |
T8991 |
T8987 |
punct |
", ",TTD |
R6104 |
T8992 |
T8993 |
amod |
hemizygous,KO |
R6105 |
T8993 |
T8987 |
conj |
KO,TTD |
R6106 |
T8994 |
T8993 |
compound |
XpdTTD,KO |
R6107 |
T8995 |
T8993 |
punct |
/,KO |
R6108 |
T8996 |
T8993 |
punct |
", ",KO |
R6109 |
T8997 |
T8993 |
cc |
and,KO |
R611 |
T951 |
T924 |
prep |
without,are |
R6110 |
T8998 |
T8999 |
nmod |
compound,†XPCS |
R6111 |
T8999 |
T8993 |
conj |
†XPCS,KO |
R6112 |
T9000 |
T8999 |
amod |
heterozygous,†XPCS |
R6113 |
T9001 |
T8999 |
compound |
XpdTTD,†XPCS |
R6114 |
T9002 |
T8999 |
punct |
/,†XPCS |
R6115 |
T9003 |
T8999 |
cc |
and,†XPCS |
R6116 |
T9004 |
T9005 |
compound |
XpdTTD,†XP |
R6117 |
T9005 |
T8999 |
conj |
†XP,†XPCS |
R6118 |
T9006 |
T9005 |
punct |
/,†XP |
R6119 |
T9007 |
T8977 |
prep |
by,reduction |
R612 |
T952 |
T953 |
det |
a,predisposition |
R6120 |
T9008 |
T9009 |
amod |
comparative,immunofluorescence |
R6121 |
T9009 |
T9007 |
pobj |
immunofluorescence,by |
R6122 |
T9010 |
T9009 |
prep |
of,immunofluorescence |
R6123 |
T9011 |
T9012 |
det |
the,subunit |
R6124 |
T9012 |
T9010 |
pobj |
subunit,of |
R6125 |
T9013 |
T9012 |
compound |
p62,subunit |
R6126 |
T9014 |
T9012 |
prep |
of,subunit |
R6127 |
T9015 |
T9014 |
pobj |
TFIIH,of |
R6128 |
T9016 |
T8977 |
punct |
.,reduction |
R6129 |
T9018 |
T9019 |
amod |
Roman,numerals |
R613 |
T953 |
T951 |
pobj |
predisposition,without |
R6130 |
T9019 |
T9020 |
nsubj |
numerals,represent |
R6131 |
T9021 |
T9022 |
amod |
different,slides |
R6132 |
T9022 |
T9020 |
dobj |
slides,represent |
R6133 |
T9023 |
T9022 |
amod |
microscopic,slides |
R6134 |
T9024 |
T9020 |
cc |
and,represent |
R6135 |
T9025 |
T9026 |
amod |
Arabic,numerals |
R6136 |
T9026 |
T9027 |
nsubj |
numerals,lines |
R6137 |
T9027 |
T9020 |
conj |
lines,represent |
R6138 |
T9028 |
T9027 |
amod |
different,lines |
R6139 |
T9029 |
T9027 |
compound |
cell,lines |
R614 |
T954 |
T953 |
amod |
clear,predisposition |
R6140 |
T9030 |
T9027 |
acl |
labelled,lines |
R6141 |
T9031 |
T9032 |
mark |
as,follows |
R6142 |
T9032 |
T9030 |
advcl |
follows,labelled |
R6143 |
T9033 |
T9027 |
punct |
: ,lines |
R6144 |
T9034 |
T9035 |
punct |
(,I |
R6145 |
T9035 |
T9036 |
meta |
I,cells |
R6146 |
T9036 |
T9027 |
dep |
cells,lines |
R6147 |
T9037 |
T9035 |
punct |
),I |
R6148 |
T9038 |
T9036 |
compound |
wt,cells |
R6149 |
T9039 |
T9040 |
punct |
(,1 |
R615 |
T955 |
T953 |
compound |
cancer,predisposition |
R6150 |
T9040 |
T9036 |
parataxis |
1,cells |
R6151 |
T9041 |
T9040 |
punct |
),1 |
R6152 |
T9042 |
T9036 |
acl |
labelled,cells |
R6153 |
T9043 |
T9042 |
prep |
with,labelled |
R6154 |
T9044 |
T9045 |
nummod |
2,μm |
R6155 |
T9045 |
T9047 |
compound |
μm,beads |
R6156 |
T9046 |
T9045 |
punct |
-,μm |
R6157 |
T9047 |
T9043 |
pobj |
beads,with |
R6158 |
T9048 |
T9036 |
punct |
", ",cells |
R6159 |
T9049 |
T9050 |
compound |
XpdTTD,TTD |
R616 |
T956 |
T957 |
punct |
[,12 |
R6160 |
T9050 |
T9052 |
compound |
TTD,cells |
R6161 |
T9051 |
T9050 |
punct |
/,TTD |
R6162 |
T9052 |
T9036 |
conj |
cells,cells |
R6163 |
T9053 |
T9054 |
punct |
(,2 |
R6164 |
T9054 |
T9052 |
parataxis |
2,cells |
R6165 |
T9055 |
T9054 |
punct |
),2 |
R6166 |
T9056 |
T9052 |
prep |
with,cells |
R6167 |
T9057 |
T9058 |
nummod |
0.79,μm |
R6168 |
T9058 |
T9060 |
compound |
μm,beads |
R6169 |
T9059 |
T9058 |
punct |
-,μm |
R617 |
T957 |
T924 |
parataxis |
12,are |
R6170 |
T9060 |
T9056 |
pobj |
beads,with |
R6171 |
T9061 |
T9052 |
punct |
", ",cells |
R6172 |
T9062 |
T9052 |
cc |
and,cells |
R6173 |
T9063 |
T9064 |
compound |
XpdTTD,KO |
R6174 |
T9064 |
T9066 |
compound |
KO,cells |
R6175 |
T9065 |
T9064 |
punct |
/,KO |
R6176 |
T9066 |
T9052 |
conj |
cells,cells |
R6177 |
T9067 |
T9068 |
punct |
(,3 |
R6178 |
T9068 |
T9066 |
parataxis |
3,cells |
R6179 |
T9069 |
T9068 |
punct |
),3 |
R618 |
T958 |
T959 |
punct |
–,15 |
R6180 |
T9070 |
T9066 |
prep |
with,cells |
R6181 |
T9071 |
T9072 |
det |
no,beads |
R6182 |
T9072 |
T9070 |
pobj |
beads,with |
R6183 |
T9073 |
T9036 |
punct |
;,cells |
R6184 |
T9074 |
T9075 |
punct |
(,II |
R6185 |
T9075 |
T9076 |
meta |
II,cells |
R6186 |
T9076 |
T9036 |
conj |
cells,cells |
R6187 |
T9077 |
T9075 |
punct |
),II |
R6188 |
T9078 |
T9076 |
compound |
wt,cells |
R6189 |
T9079 |
T9080 |
punct |
(,1 |
R619 |
T959 |
T957 |
prep |
15,12 |
R6190 |
T9080 |
T9076 |
parataxis |
1,cells |
R6191 |
T9081 |
T9080 |
punct |
),1 |
R6192 |
T9082 |
T9076 |
acl |
labelled,cells |
R6193 |
T9083 |
T9082 |
prep |
with,labelled |
R6194 |
T9084 |
T9085 |
nummod |
0.79,μm |
R6195 |
T9085 |
T9087 |
compound |
μm,beads |
R6196 |
T9086 |
T9085 |
punct |
-,μm |
R6197 |
T9087 |
T9083 |
pobj |
beads,with |
R6198 |
T9088 |
T9076 |
cc |
and,cells |
R6199 |
T9089 |
T9090 |
compound |
XpdTTD,†XPCS |
R620 |
T960 |
T957 |
punct |
],12 |
R6200 |
T9090 |
T9092 |
compound |
†XPCS,cells |
R6201 |
T9091 |
T9090 |
punct |
/,†XPCS |
R6202 |
T9092 |
T9076 |
conj |
cells,cells |
R6203 |
T9093 |
T9094 |
punct |
(,4 |
R6204 |
T9094 |
T9092 |
parataxis |
4,cells |
R6205 |
T9095 |
T9094 |
punct |
),4 |
R6206 |
T9096 |
T9092 |
prep |
with,cells |
R6207 |
T9097 |
T9098 |
det |
no,beads |
R6208 |
T9098 |
T9096 |
pobj |
beads,with |
R6209 |
T9099 |
T9076 |
punct |
;,cells |
R621 |
T961 |
T924 |
punct |
.,are |
R6210 |
T9100 |
T9076 |
cc |
and,cells |
R6211 |
T9101 |
T9102 |
punct |
(,III |
R6212 |
T9102 |
T9103 |
meta |
III,cells |
R6213 |
T9103 |
T9076 |
conj |
cells,cells |
R6214 |
T9104 |
T9102 |
punct |
),III |
R6215 |
T9105 |
T9103 |
compound |
wt,cells |
R6216 |
T9106 |
T9107 |
punct |
(,1 |
R6217 |
T9107 |
T9103 |
parataxis |
1,cells |
R6218 |
T9108 |
T9107 |
punct |
),1 |
R6219 |
T9109 |
T9103 |
acl |
labelled,cells |
R622 |
T963 |
T964 |
nsubj |
Patients,display |
R6220 |
T9110 |
T9109 |
prep |
with,labelled |
R6221 |
T9111 |
T9112 |
nummod |
0.79,μm |
R6222 |
T9112 |
T9114 |
compound |
μm,beads |
R6223 |
T9113 |
T9112 |
punct |
-,μm |
R6224 |
T9114 |
T9110 |
pobj |
beads,with |
R6225 |
T9115 |
T9103 |
cc |
and,cells |
R6226 |
T9116 |
T9117 |
compound |
XpdTTD,†XP |
R6227 |
T9117 |
T9119 |
compound |
†XP,cells |
R6228 |
T9118 |
T9117 |
punct |
/,†XP |
R6229 |
T9119 |
T9103 |
conj |
cells,cells |
R623 |
T965 |
T963 |
prep |
with,Patients |
R6230 |
T9120 |
T9121 |
punct |
(,5 |
R6231 |
T9121 |
T9119 |
parataxis |
5,cells |
R6232 |
T9122 |
T9121 |
punct |
),5 |
R6233 |
T9123 |
T9119 |
prep |
with,cells |
R6234 |
T9124 |
T9125 |
det |
no,beads |
R6235 |
T9125 |
T9123 |
pobj |
beads,with |
R6236 |
T9126 |
T9027 |
punct |
.,lines |
R6237 |
T9128 |
T9129 |
punct |
(,F |
R6238 |
T9129 |
T9130 |
meta |
F,Quantification |
R6239 |
T9131 |
T9129 |
punct |
),F |
R624 |
T966 |
T965 |
pobj |
TTD,with |
R6240 |
T9132 |
T9130 |
prep |
of,Quantification |
R6241 |
T9133 |
T9134 |
amod |
immunofluorescent,signal |
R6242 |
T9134 |
T9132 |
pobj |
signal,of |
R6243 |
T9135 |
T9134 |
prep |
from,signal |
R6244 |
T9136 |
T9137 |
advmod |
at,50 |
R6245 |
T9137 |
T9139 |
nummod |
50,nuclei |
R6246 |
T9138 |
T9137 |
advmod |
least,50 |
R6247 |
T9139 |
T9135 |
pobj |
nuclei,from |
R6248 |
T9140 |
T9139 |
prep |
per,nuclei |
R6249 |
T9141 |
T9142 |
compound |
cell,line |
R625 |
T967 |
T964 |
advmod |
additionally,display |
R6250 |
T9142 |
T9140 |
pobj |
line,per |
R6251 |
T9143 |
T9139 |
cc |
and,nuclei |
R6252 |
T9144 |
T9145 |
quantmod |
2,6 |
R6253 |
T9145 |
T9147 |
nummod |
6,experiments |
R6254 |
T9146 |
T9145 |
punct |
–,6 |
R6255 |
T9147 |
T9139 |
conj |
experiments,nuclei |
R6256 |
T9148 |
T9147 |
prep |
per,experiments |
R6257 |
T9149 |
T9148 |
pobj |
genotype,per |
R6258 |
T9150 |
T9130 |
punct |
.,Quantification |
R6259 |
T9152 |
T9153 |
nsubjpass |
Bars,depicted |
R626 |
T968 |
T969 |
nmod |
hallmark,hair |
R6260 |
T9154 |
T9152 |
acl |
representing,Bars |
R6261 |
T9155 |
T9154 |
dobj |
cells,representing |
R6262 |
T9156 |
T9155 |
acl |
analysed,cells |
R6263 |
T9157 |
T9156 |
prep |
on,analysed |
R6264 |
T9158 |
T9159 |
det |
the,slide |
R6265 |
T9159 |
T9157 |
pobj |
slide,on |
R6266 |
T9160 |
T9159 |
amod |
same,slide |
R6267 |
T9161 |
T9159 |
amod |
microscopic,slide |
R6268 |
T9162 |
T9153 |
auxpass |
are,depicted |
R6269 |
T9163 |
T9153 |
npadvmod |
side,depicted |
R627 |
T969 |
T964 |
dobj |
hair,display |
R6270 |
T9164 |
T9163 |
prep |
by,side |
R6271 |
T9165 |
T9164 |
pobj |
side,by |
R6272 |
T9166 |
T9153 |
punct |
", ",depicted |
R6273 |
T9167 |
T9153 |
prep |
with,depicted |
R6274 |
T9168 |
T9167 |
pobj |
wt,with |
R6275 |
T9169 |
T9168 |
acl |
set,wt |
R6276 |
T9170 |
T9169 |
prep |
at,set |
R6277 |
T9171 |
T9172 |
nummod |
100,% |
R6278 |
T9172 |
T9170 |
pobj |
%,at |
R6279 |
T9173 |
T9153 |
punct |
.,depicted |
R628 |
T970 |
T971 |
npadvmod |
sulphur,deficient |
R6280 |
T9175 |
T9176 |
det |
The,value |
R6281 |
T9176 |
T9179 |
nsubj |
value,indicates |
R6282 |
T9177 |
T9176 |
compound |
p,value |
R6283 |
T9178 |
T9176 |
punct |
-,value |
R6284 |
T9180 |
T9181 |
amod |
minimum,difference |
R6285 |
T9181 |
T9179 |
dobj |
difference,indicates |
R6286 |
T9182 |
T9181 |
amod |
significant,difference |
R6287 |
T9183 |
T9181 |
prep |
between,difference |
R6288 |
T9184 |
T9183 |
pobj |
wt,between |
R6289 |
T9185 |
T9184 |
cc |
and,wt |
R629 |
T971 |
T969 |
amod |
deficient,hair |
R6290 |
T9186 |
T9187 |
det |
the,lines |
R6291 |
T9187 |
T9184 |
conj |
lines,wt |
R6292 |
T9188 |
T9187 |
amod |
indicated,lines |
R6293 |
T9189 |
T9187 |
compound |
cell,lines |
R6294 |
T9190 |
T9187 |
acl |
analysed,lines |
R6295 |
T9191 |
T9190 |
prep |
on,analysed |
R6296 |
T9192 |
T9193 |
det |
the,slide |
R6297 |
T9193 |
T9191 |
pobj |
slide,on |
R6298 |
T9194 |
T9193 |
amod |
same,slide |
R6299 |
T9195 |
T9193 |
amod |
microscopic,slide |
R630 |
T972 |
T971 |
punct |
-,deficient |
R6300 |
T9196 |
T9181 |
prep |
within,difference |
R6301 |
T9197 |
T9198 |
nummod |
one,experiment |
R6302 |
T9198 |
T9196 |
pobj |
experiment,within |
R6303 |
T9199 |
T9179 |
punct |
.,indicates |
R6304 |
T9212 |
T9211 |
prep |
of,Frequency |
R6305 |
T9213 |
T9214 |
compound |
Xpd†XP,†XP |
R6306 |
T9214 |
T9212 |
pobj |
†XP,of |
R6307 |
T9215 |
T9214 |
punct |
/,†XP |
R6308 |
T9216 |
T9214 |
punct |
", ",†XP |
R6309 |
T9217 |
T9218 |
compound |
Xpd†XPCS,†XPCS |
R631 |
T973 |
T969 |
amod |
brittle,hair |
R6310 |
T9218 |
T9214 |
conj |
†XPCS,†XP |
R6311 |
T9219 |
T9218 |
punct |
/,†XPCS |
R6312 |
T9220 |
T9218 |
punct |
", ",†XPCS |
R6313 |
T9221 |
T9218 |
cc |
and,†XPCS |
R6314 |
T9222 |
T9223 |
nmod |
Compound,†XPCS |
R6315 |
T9223 |
T9218 |
conj |
†XPCS,†XPCS |
R6316 |
T9224 |
T9223 |
amod |
Heterozygous,†XPCS |
R6317 |
T9225 |
T9223 |
compound |
Xpd†XP,†XPCS |
R6318 |
T9226 |
T9223 |
punct |
/,†XPCS |
R6319 |
T9227 |
T9214 |
appos |
Embryos,†XP |
R632 |
T974 |
T969 |
cc |
and,hair |
R6320 |
T9228 |
T9227 |
cc |
and,Embryos |
R6321 |
T9229 |
T9227 |
conj |
Offspring,Embryos |
R6322 |
T9241 |
T9242 |
amod |
Pleiotropic,Effects |
R6323 |
T9243 |
T9242 |
nmod |
Xpd,Effects |
R6324 |
T9244 |
T9242 |
amod |
Biallelic,Effects |
R6325 |
T9245 |
T9242 |
prep |
in,Effects |
R6326 |
T9246 |
T9245 |
pobj |
Mice,in |
R6327 |
T9247 |
T9246 |
cc |
and,Mice |
R6328 |
T9248 |
T9246 |
conj |
Cells,Mice |
R6329 |
T9280 |
T9281 |
compound |
Genotype,Phenotype |
R633 |
T975 |
T969 |
conj |
nails,hair |
R6330 |
T9281 |
T9283 |
compound |
Phenotype,Relationships |
R6331 |
T9282 |
T9281 |
punct |
–,Phenotype |
R6332 |
T9284 |
T9283 |
prep |
in,Relationships |
R6333 |
T9285 |
T9286 |
compound |
XPD,Disorders |
R6334 |
T9286 |
T9284 |
pobj |
Disorders,in |
R6335 |
T9288 |
T9289 |
prep |
According,determined |
R6336 |
T9290 |
T9288 |
prep |
to,According |
R6337 |
T9291 |
T9292 |
det |
the,hypothesis |
R6338 |
T9292 |
T9290 |
pobj |
hypothesis,to |
R6339 |
T9293 |
T9292 |
amod |
current,hypothesis |
R634 |
T976 |
T969 |
cc |
and,hair |
R6340 |
T9294 |
T9292 |
amod |
monoallelic,hypothesis |
R6341 |
T9295 |
T9289 |
punct |
", ",determined |
R6342 |
T9296 |
T9289 |
nsubjpass |
phenotype,determined |
R6343 |
T9297 |
T9289 |
auxpass |
is,determined |
R6344 |
T9298 |
T9299 |
advmod |
solely,by |
R6345 |
T9299 |
T9289 |
agent |
by,determined |
R6346 |
T9300 |
T9301 |
det |
the,product |
R6347 |
T9301 |
T9299 |
pobj |
product,by |
R6348 |
T9302 |
T9301 |
amod |
causative,product |
R6349 |
T9303 |
T9301 |
compound |
allele,product |
R635 |
T977 |
T978 |
amod |
scaling,skin |
R6350 |
T9304 |
T9289 |
punct |
.,determined |
R6351 |
T9306 |
T9307 |
mark |
If,is |
R6352 |
T9307 |
T9313 |
advcl |
is,considered |
R6353 |
T9308 |
T9309 |
det |
a,allele |
R6354 |
T9309 |
T9307 |
nsubj |
allele,is |
R6355 |
T9310 |
T9309 |
amod |
second,allele |
R6356 |
T9311 |
T9309 |
punct |
", ",allele |
R6357 |
T9312 |
T9309 |
amod |
different,allele |
R6358 |
T9314 |
T9307 |
acomp |
present,is |
R6359 |
T9315 |
T9313 |
punct |
", ",considered |
R636 |
T978 |
T969 |
conj |
skin,hair |
R6360 |
T9316 |
T9313 |
nsubjpass |
it,considered |
R6361 |
T9317 |
T9313 |
auxpass |
is,considered |
R6362 |
T9318 |
T9319 |
det |
a,null |
R6363 |
T9319 |
T9313 |
oprd |
null,considered |
R6364 |
T9320 |
T9319 |
amod |
functional,null |
R6365 |
T9321 |
T9313 |
punct |
.,considered |
R6366 |
T9323 |
T9324 |
expl |
There,is |
R6367 |
T9325 |
T9326 |
det |
a,lack |
R6368 |
T9326 |
T9324 |
attr |
lack,is |
R6369 |
T9327 |
T9326 |
prep |
of,lack |
R637 |
T979 |
T980 |
punct |
[,13 |
R6370 |
T9328 |
T9329 |
det |
any,correlation |
R6371 |
T9329 |
T9327 |
pobj |
correlation,of |
R6372 |
T9330 |
T9329 |
prep |
between,correlation |
R6373 |
T9331 |
T9332 |
det |
the,site |
R6374 |
T9332 |
T9330 |
pobj |
site,between |
R6375 |
T9333 |
T9332 |
prep |
of,site |
R6376 |
T9334 |
T9335 |
det |
the,mutation |
R6377 |
T9335 |
T9333 |
pobj |
mutation,of |
R6378 |
T9336 |
T9335 |
compound |
XPD,mutation |
R6379 |
T9337 |
T9332 |
cc |
and,site |
R638 |
T980 |
T969 |
parataxis |
13,hair |
R6380 |
T9338 |
T9339 |
det |
the,disorder |
R6381 |
T9339 |
T9332 |
conj |
disorder,site |
R6382 |
T9340 |
T9339 |
amod |
resulting,disorder |
R6383 |
T9341 |
T9324 |
punct |
.,is |
R6384 |
T9343 |
T9344 |
nsubj |
We,propose |
R6385 |
T9345 |
T9346 |
det |
a,hypothesis |
R6386 |
T9346 |
T9344 |
dobj |
hypothesis,propose |
R6387 |
T9347 |
T9346 |
amod |
biallelic,hypothesis |
R6388 |
T9348 |
T9346 |
prep |
for,hypothesis |
R6389 |
T9349 |
T9350 |
compound |
compound,heterozygotes |
R639 |
T981 |
T980 |
punct |
],13 |
R6390 |
T9350 |
T9348 |
pobj |
heterozygotes,for |
R6391 |
T9351 |
T9352 |
prep |
in,contribute |
R6392 |
T9352 |
T9346 |
relcl |
contribute,hypothesis |
R6393 |
T9353 |
T9351 |
pobj |
which,in |
R6394 |
T9354 |
T9355 |
det |
both,alleles |
R6395 |
T9355 |
T9352 |
nsubj |
alleles,contribute |
R6396 |
T9356 |
T9352 |
aux |
can,contribute |
R6397 |
T9357 |
T9352 |
prep |
to,contribute |
R6398 |
T9358 |
T9359 |
det |
the,phenotype |
R6399 |
T9359 |
T9357 |
pobj |
phenotype,to |
R640 |
T982 |
T969 |
punct |
", ",hair |
R6400 |
T9360 |
T9344 |
punct |
.,propose |
R6401 |
T9362 |
T9363 |
nsubjpass |
Examples,provided |
R6402 |
T9364 |
T9362 |
prep |
of,Examples |
R6403 |
T9365 |
T9366 |
nmod |
compound,patients |
R6404 |
T9366 |
T9364 |
pobj |
patients,of |
R6405 |
T9367 |
T9366 |
amod |
heterozygous,patients |
R6406 |
T9368 |
T9369 |
prep |
in,is |
R6407 |
T9369 |
T9366 |
relcl |
is,patients |
R6408 |
T9370 |
T9368 |
pobj |
which,in |
R6409 |
T9371 |
T9372 |
det |
a,allele |
R641 |
T983 |
T969 |
acl |
resulting,hair |
R6410 |
T9372 |
T9369 |
nsubj |
allele,is |
R6411 |
T9373 |
T9372 |
amod |
second,allele |
R6412 |
T9374 |
T9372 |
punct |
", ",allele |
R6413 |
T9375 |
T9376 |
amod |
presumed,null |
R6414 |
T9376 |
T9372 |
amod |
null,allele |
R6415 |
T9377 |
T9369 |
acomp |
likely,is |
R6416 |
T9378 |
T9379 |
aux |
to,contribute |
R6417 |
T9379 |
T9377 |
xcomp |
contribute,likely |
R6418 |
T9380 |
T9379 |
prep |
to,contribute |
R6419 |
T9381 |
T9382 |
compound |
disease,outcome |
R642 |
T984 |
T983 |
prep |
from,resulting |
R6420 |
T9382 |
T9380 |
pobj |
outcome,to |
R6421 |
T9383 |
T9363 |
auxpass |
are,provided |
R6422 |
T9384 |
T9363 |
advmod |
above,provided |
R6423 |
T9385 |
T9363 |
prep |
in,provided |
R6424 |
T9386 |
T9385 |
pobj |
comparison,in |
R6425 |
T9387 |
T9386 |
prep |
to,comparison |
R6426 |
T9388 |
T9389 |
amod |
corresponding,patients |
R6427 |
T9389 |
T9387 |
pobj |
patients,to |
R6428 |
T9390 |
T9391 |
advmod |
homo,hemizygous |
R6429 |
T9391 |
T9389 |
amod |
hemizygous,patients |
R643 |
T985 |
T986 |
det |
a,defect |
R6430 |
T9392 |
T9391 |
punct |
-,hemizygous |
R6431 |
T9393 |
T9391 |
cc |
or,hemizygous |
R6432 |
T9394 |
T9389 |
prep |
with,patients |
R6433 |
T9395 |
T9396 |
det |
the,allele |
R6434 |
T9396 |
T9394 |
pobj |
allele,with |
R6435 |
T9397 |
T9396 |
amod |
same,allele |
R6436 |
T9398 |
T9396 |
amod |
causative,allele |
R6437 |
T9399 |
T9363 |
punct |
.,provided |
R6438 |
T9401 |
T9402 |
nsubj |
Numbers,indicate |
R6439 |
T9403 |
T9401 |
prep |
in,Numbers |
R644 |
T986 |
T984 |
pobj |
defect,from |
R6440 |
T9404 |
T9405 |
det |
the,schematic |
R6441 |
T9405 |
T9403 |
pobj |
schematic,in |
R6442 |
T9406 |
T9405 |
prep |
of,schematic |
R6443 |
T9407 |
T9408 |
det |
the,protein |
R6444 |
T9408 |
T9406 |
pobj |
protein,of |
R6445 |
T9409 |
T9410 |
det |
the,domains |
R6446 |
T9410 |
T9402 |
dobj |
domains,indicate |
R6447 |
T9411 |
T9410 |
compound |
helicase,domains |
R6448 |
T9412 |
T9402 |
punct |
.,indicate |
R645 |
T987 |
T986 |
amod |
basal,defect |
R646 |
T988 |
T986 |
compound |
transcription,defect |
R647 |
T989 |
T986 |
prep |
in,defect |
R648 |
T990 |
T991 |
amod |
specific,types |
R649 |
T991 |
T989 |
pobj |
types,in |
R650 |
T992 |
T991 |
compound |
cell,types |
R651 |
T993 |
T994 |
punct |
[,17 |
R652 |
T994 |
T964 |
parataxis |
17,display |
R653 |
T995 |
T994 |
nummod |
16,17 |
R654 |
T996 |
T994 |
punct |
",",17 |
R655 |
T997 |
T994 |
punct |
],17 |
R656 |
T998 |
T964 |
punct |
.,display |
R657 |
T1000 |
T1001 |
det |
A,disorder |
R658 |
T1001 |
T1003 |
nsubjpass |
disorder,described |
R659 |
T1002 |
T1001 |
amod |
related,disorder |
R660 |
T1004 |
T1001 |
prep |
with,disorder |
R661 |
T1005 |
T1006 |
det |
the,predisposition |
R662 |
T1006 |
T1004 |
pobj |
predisposition,with |
R663 |
T1007 |
T1006 |
compound |
cancer,predisposition |
R664 |
T1008 |
T1006 |
prep |
of,predisposition |
R665 |
T1009 |
T1008 |
pobj |
XP,of |
R666 |
T1010 |
T1006 |
acl |
combined,predisposition |
R667 |
T1011 |
T1010 |
prep |
with,combined |
R668 |
T1012 |
T1013 |
det |
the,complications |
R669 |
T1013 |
T1011 |
pobj |
complications,with |
R670 |
T1014 |
T1013 |
amod |
neurodevelopmental,complications |
R671 |
T1015 |
T1013 |
prep |
of,complications |
R672 |
T1016 |
T1015 |
pobj |
CS,of |
R673 |
T1017 |
T1018 |
punct |
(,XPCS |
R674 |
T1018 |
T1016 |
parataxis |
XPCS,CS |
R675 |
T1019 |
T1018 |
punct |
),XPCS |
R676 |
T1020 |
T1003 |
punct |
", ",described |
R677 |
T1021 |
T1022 |
mark |
although,rare |
R678 |
T1022 |
T1003 |
advcl |
rare,described |
R679 |
T1023 |
T1003 |
punct |
", ",described |
R680 |
T1024 |
T1003 |
aux |
has,described |
R681 |
T1025 |
T1003 |
advmod |
also,described |
R682 |
T1026 |
T1003 |
auxpass |
been,described |
R683 |
T1027 |
T1028 |
punct |
[,18 |
R684 |
T1028 |
T1003 |
parataxis |
18,described |
R685 |
T1029 |
T1028 |
punct |
],18 |
R686 |
T1030 |
T1003 |
punct |
.,described |
R687 |
T1032 |
T1033 |
amod |
Many,mutations |
R688 |
T1033 |
T1035 |
nsubjpass |
mutations,associated |
R689 |
T1034 |
T1033 |
compound |
XPD,mutations |
R690 |
T1036 |
T1035 |
auxpass |
are,associated |
R691 |
T1037 |
T1035 |
prep |
with,associated |
R692 |
T1038 |
T1039 |
det |
an,phenotype |
R693 |
T1039 |
T1037 |
pobj |
phenotype,with |
R694 |
T1040 |
T1039 |
amod |
exclusive,phenotype |
R695 |
T1041 |
T1039 |
compound |
disease,phenotype |
R696 |
T1042 |
T1043 |
punct |
(,XPDR722W |
R697 |
T1043 |
T1039 |
parataxis |
XPDR722W,phenotype |
R698 |
T1044 |
T1043 |
advmod |
e.g.,XPDR722W |
R699 |
T1045 |
T1043 |
punct |
", ",XPDR722W |
R700 |
T1046 |
T1043 |
prep |
with,XPDR722W |
R701 |
T1047 |
T1046 |
pobj |
TTD,with |
R702 |
T1048 |
T1043 |
cc |
and,XPDR722W |
R703 |
T1049 |
T1043 |
conj |
XPDR683W,XPDR722W |
R704 |
T1050 |
T1049 |
prep |
with,XPDR683W |
R705 |
T1051 |
T1050 |
pobj |
XP,with |
R706 |
T1052 |
T1043 |
punct |
),XPDR722W |
R707 |
T1053 |
T1035 |
cc |
and,associated |
R708 |
T1054 |
T1055 |
auxpass |
are,viewed |
R709 |
T1055 |
T1035 |
conj |
viewed,associated |
R710 |
T1056 |
T1055 |
advmod |
thus,viewed |
R711 |
T1057 |
T1055 |
prep |
as,viewed |
R712 |
T1058 |
T1057 |
pobj |
causative,as |
R713 |
T1059 |
T1058 |
prep |
of,causative |
R714 |
T1060 |
T1061 |
det |
the,syndromes |
R715 |
T1061 |
T1059 |
pobj |
syndromes,of |
R716 |
T1062 |
T1061 |
amod |
corresponding,syndromes |
R717 |
T1063 |
T1035 |
punct |
.,associated |
R718 |
T1065 |
T1066 |
nsubjpass |
Alleles,considered |
R719 |
T1067 |
T1068 |
neg |
not,associated |
R720 |
T1068 |
T1065 |
acl |
associated,Alleles |
R721 |
T1069 |
T1068 |
advmod |
exclusively,associated |
R722 |
T1070 |
T1068 |
prep |
with,associated |
R723 |
T1071 |
T1072 |
nummod |
one,disorder |
R724 |
T1072 |
T1070 |
pobj |
disorder,with |
R725 |
T1073 |
T1066 |
auxpass |
are,considered |
R726 |
T1074 |
T1075 |
punct |
“,alleles |
R727 |
T1075 |
T1066 |
oprd |
alleles,considered |
R728 |
T1076 |
T1077 |
advmod |
likely,null |
R729 |
T1077 |
T1075 |
amod |
null,alleles |
R730 |
T1078 |
T1075 |
punct |
”,alleles |
R731 |
T1079 |
T1080 |
punct |
[,20 |
R732 |
T1080 |
T1066 |
parataxis |
20,considered |
R733 |
T1081 |
T1080 |
nummod |
19,20 |
R734 |
T1082 |
T1080 |
punct |
",",20 |
R735 |
T1083 |
T1080 |
punct |
],20 |
R736 |
T1084 |
T1066 |
punct |
.,considered |
R737 |
T1086 |
T1087 |
nsubj |
Some,fail |
R738 |
T1088 |
T1086 |
prep |
of,Some |
R739 |
T1089 |
T1090 |
det |
these,alleles |
R740 |
T1090 |
T1088 |
pobj |
alleles,of |
R741 |
T1091 |
T1092 |
aux |
to,support |
R742 |
T1092 |
T1087 |
xcomp |
support,fail |
R743 |
T1093 |
T1092 |
dobj |
viability,support |
R744 |
T1094 |
T1092 |
prep |
in,support |
R745 |
T1095 |
T1096 |
det |
a,strain |
R746 |
T1096 |
T1094 |
pobj |
strain,in |
R747 |
T1097 |
T1096 |
amod |
haploid,strain |
R748 |
T1098 |
T1096 |
compound |
Schizosaccharomyces,strain |
R749 |
T1099 |
T1096 |
compound |
pombe,strain |
R750 |
T1100 |
T1096 |
compound |
yeast,strain |
R751 |
T1101 |
T1096 |
prep |
with,strain |
R752 |
T1102 |
T1103 |
det |
a,mutation |
R753 |
T1103 |
T1101 |
pobj |
mutation,with |
R754 |
T1104 |
T1103 |
amod |
null,mutation |
R755 |
T1105 |
T1103 |
prep |
in,mutation |
R756 |
T1106 |
T1107 |
det |
the,rad15 |
R757 |
T1107 |
T1105 |
pobj |
rad15,in |
R758 |
T1108 |
T1107 |
compound |
XPD,rad15 |
R759 |
T1109 |
T1107 |
compound |
homologue,rad15 |
R760 |
T1110 |
T1087 |
cc |
and,fail |
R761 |
T1111 |
T1112 |
auxpass |
are,considered |
R762 |
T1112 |
T1087 |
conj |
considered,fail |
R763 |
T1113 |
T1112 |
advmod |
thus,considered |
R764 |
T1114 |
T1112 |
oprd |
devoid,considered |
R765 |
T1115 |
T1114 |
prep |
of,devoid |
R766 |
T1116 |
T1117 |
amod |
significant,activity |
R767 |
T1117 |
T1115 |
pobj |
activity,of |
R768 |
T1118 |
T1117 |
amod |
biological,activity |
R769 |
T1119 |
T1120 |
punct |
[,19 |
R770 |
T1120 |
T1112 |
parataxis |
19,considered |
R771 |
T1121 |
T1120 |
punct |
],19 |
R772 |
T1122 |
T1087 |
punct |
.,fail |
R773 |
T1124 |
T1125 |
det |
This,classification |
R774 |
T1125 |
T1126 |
nsubj |
classification,defines |
R775 |
T1127 |
T1125 |
prep |
of,classification |
R776 |
T1128 |
T1127 |
pobj |
alleles,of |
R777 |
T1129 |
T1125 |
prep |
as,classification |
R778 |
T1130 |
T1131 |
preconj |
either,causative |
R779 |
T1131 |
T1129 |
amod |
causative,as |
R780 |
T1132 |
T1131 |
cc |
or,causative |
R781 |
T1133 |
T1131 |
conj |
null,causative |
R782 |
T1134 |
T1126 |
advmod |
currently,defines |
R783 |
T1135 |
T1136 |
dep |
what,refer |
R784 |
T1136 |
T1126 |
ccomp |
refer,defines |
R785 |
T1137 |
T1136 |
nsubj |
we,refer |
R786 |
T1138 |
T1136 |
prep |
to,refer |
R787 |
T1139 |
T1136 |
prep |
as,refer |
R788 |
T1140 |
T1141 |
det |
a,paradigm |
R789 |
T1141 |
T1139 |
pobj |
paradigm,as |
R790 |
T1142 |
T1141 |
punct |
“,paradigm |
R791 |
T1143 |
T1141 |
amod |
monoallelic,paradigm |
R792 |
T1144 |
T1141 |
punct |
”,paradigm |
R793 |
T1145 |
T1141 |
prep |
of,paradigm |
R794 |
T1146 |
T1147 |
compound |
XPD,disease |
R795 |
T1147 |
T1145 |
pobj |
disease,of |
R796 |
T1148 |
T1126 |
punct |
.,defines |
R797 |
T1150 |
T1151 |
advmod |
However,casts |
R798 |
T1152 |
T1151 |
punct |
", ",casts |
R799 |
T1153 |
T1154 |
det |
the,identification |
R800 |
T1154 |
T1151 |
nsubj |
identification,casts |
R801 |
T1155 |
T1154 |
prep |
in,identification |
R802 |
T1156 |
T1157 |
amod |
recent,years |
R803 |
T1157 |
T1155 |
pobj |
years,in |
R804 |
T1158 |
T1157 |
prep |
of,years |
R805 |
T1159 |
T1160 |
compound |
XP,patients |
R806 |
T1160 |
T1158 |
pobj |
patients,of |
R807 |
T1161 |
T1160 |
compound |
complementation,patients |
R808 |
T1162 |
T1163 |
compound |
group,D |
R809 |
T1163 |
T1160 |
compound |
D,patients |
R810 |
T1164 |
T1160 |
prep |
with,patients |
R811 |
T1165 |
T1166 |
amod |
atypical,presentation |
R812 |
T1166 |
T1164 |
pobj |
presentation,with |
R813 |
T1167 |
T1166 |
compound |
disease,presentation |
R814 |
T1168 |
T1166 |
punct |
", ",presentation |
R815 |
T1169 |
T1166 |
prep |
including,presentation |
R816 |
T1170 |
T1169 |
pobj |
symptoms,including |
R817 |
T1171 |
T1170 |
prep |
of,symptoms |
R818 |
T1172 |
T1173 |
preconj |
both,XP |
R819 |
T1173 |
T1171 |
pobj |
XP,of |
R820 |
T1174 |
T1173 |
cc |
and,XP |
R821 |
T1175 |
T1173 |
conj |
TTD,XP |
R822 |
T1176 |
T1177 |
punct |
[,8 |
R823 |
T1177 |
T1154 |
parataxis |
8,identification |
R824 |
T1178 |
T1177 |
punct |
],8 |
R825 |
T1179 |
T1151 |
punct |
", ",casts |
R826 |
T1180 |
T1151 |
dobj |
doubt,casts |
R827 |
T1181 |
T1151 |
prep |
on,casts |
R828 |
T1182 |
T1183 |
det |
the,ability |
R829 |
T1183 |
T1181 |
pobj |
ability,on |
R830 |
T1184 |
T1183 |
prep |
of,ability |
R831 |
T1185 |
T1186 |
amod |
such,paradigm |
R832 |
T1186 |
T1184 |
pobj |
paradigm,of |
R833 |
T1187 |
T1186 |
det |
a,paradigm |
R834 |
T1188 |
T1186 |
amod |
monoallelic,paradigm |
R835 |
T1189 |
T1190 |
aux |
to,explain |
R836 |
T1190 |
T1183 |
acl |
explain,ability |
R837 |
T1191 |
T1192 |
amod |
clinical,heterogeneity |
R838 |
T1192 |
T1190 |
dobj |
heterogeneity,explain |
R839 |
T1193 |
T1190 |
prep |
in,explain |
R840 |
T1194 |
T1195 |
compound |
compound,heterozygotes |
R841 |
T1195 |
T1193 |
pobj |
heterozygotes,in |
R842 |
T1196 |
T1151 |
punct |
.,casts |
R843 |
T1198 |
T1199 |
advmod |
Previously,generated |
R844 |
T1200 |
T1199 |
punct |
", ",generated |
R845 |
T1201 |
T1199 |
nsubj |
we,generated |
R846 |
T1202 |
T1203 |
det |
a,model |
R847 |
T1203 |
T1199 |
dobj |
model,generated |
R848 |
T1204 |
T1203 |
compound |
TTD,model |
R849 |
T1205 |
T1203 |
compound |
mouse,model |
R850 |
T1206 |
T1207 |
punct |
(,XPDR722W |
R851 |
T1207 |
T1203 |
parataxis |
XPDR722W,model |
R852 |
T1208 |
T1207 |
punct |
),XPDR722W |
R853 |
T1209 |
T1210 |
dep |
that,phenocopies |
R854 |
T1210 |
T1203 |
relcl |
phenocopies,model |
R855 |
T1211 |
T1212 |
det |
the,syndrome |
R856 |
T1212 |
T1210 |
dobj |
syndrome,phenocopies |
R857 |
T1213 |
T1212 |
amod |
human,syndrome |
R858 |
T1214 |
T1215 |
punct |
[,21 |
R859 |
T1215 |
T1199 |
parataxis |
21,generated |
R860 |
T1216 |
T1215 |
nummod |
15,21 |
R861 |
T1217 |
T1215 |
punct |
",",21 |
R862 |
T1218 |
T1215 |
punct |
],21 |
R863 |
T1219 |
T1199 |
punct |
.,generated |
R864 |
T1221 |
T1222 |
advmod |
Here,report |
R865 |
T1223 |
T1222 |
nsubj |
we,report |
R866 |
T1224 |
T1225 |
det |
the,generation |
R867 |
T1225 |
T1222 |
dobj |
generation,report |
R868 |
T1226 |
T1225 |
prep |
of,generation |
R869 |
T1227 |
T1228 |
amod |
additional,alleles |
R870 |
T1228 |
T1226 |
pobj |
alleles,of |
R871 |
T1229 |
T1228 |
amod |
mutant,alleles |
R872 |
T1230 |
T1228 |
compound |
Xpd,alleles |
R873 |
T1231 |
T1232 |
dep |
that,fail |
R874 |
T1232 |
T1228 |
relcl |
fail,alleles |
R875 |
T1233 |
T1234 |
aux |
to,support |
R876 |
T1234 |
T1232 |
xcomp |
support,fail |
R877 |
T1235 |
T1234 |
dobj |
viability,support |
R878 |
T1236 |
T1234 |
prep |
on,support |
R879 |
T1237 |
T1238 |
poss |
their,own |
R880 |
T1238 |
T1236 |
pobj |
own,on |
R881 |
T1239 |
T1232 |
cc |
but,fail |
R882 |
T1240 |
T1241 |
advmod |
nevertheless,ameliorate |
R883 |
T1241 |
T1232 |
conj |
ameliorate,fail |
R884 |
T1242 |
T1243 |
npadvmod |
TTD,associated |
R885 |
T1243 |
T1245 |
amod |
associated,ageing |
R886 |
T1244 |
T1243 |
punct |
-,associated |
R887 |
T1245 |
T1241 |
dobj |
ageing,ameliorate |
R888 |
T1246 |
T1245 |
amod |
premature,ageing |
R889 |
T1247 |
T1245 |
amod |
segmental,ageing |
R890 |
T1248 |
T1245 |
punct |
", ",ageing |
R891 |
T1249 |
T1250 |
amod |
cutaneous,features |
R892 |
T1250 |
T1245 |
conj |
features,ageing |
R893 |
T1251 |
T1250 |
punct |
", ",features |
R894 |
T1252 |
T1253 |
amod |
cellular,capacity |
R895 |
T1253 |
T1250 |
conj |
capacity,features |
R896 |
T1254 |
T1255 |
compound |
DNA,repair |
R897 |
T1255 |
T1253 |
compound |
repair,capacity |
R898 |
T1256 |
T1253 |
punct |
", ",capacity |
R899 |
T1257 |
T1253 |
cc |
and,capacity |
R900 |
T1258 |
T1259 |
compound |
UV,survival |
R901 |
T1259 |
T1253 |
conj |
survival,capacity |
R902 |
T1260 |
T1261 |
advmod |
when,present |
R903 |
T1261 |
T1241 |
advcl |
present,ameliorate |
R904 |
T1262 |
T1261 |
prep |
in,present |
R905 |
T1263 |
T1264 |
det |
a,state |
R906 |
T1264 |
T1262 |
pobj |
state,in |
R907 |
T1265 |
T1264 |
amod |
compound,state |
R908 |
T1266 |
T1264 |
compound |
heterozygote,state |
R909 |
T1267 |
T1222 |
punct |
.,report |
R910 |
T1401 |
T1400 |
prep |
of,Generation |
R911 |
T1402 |
T1403 |
compound |
Xpd,Heterozygotes |
R912 |
T1403 |
T1401 |
pobj |
Heterozygotes,of |
R913 |
T1404 |
T1403 |
compound |
Compound,Heterozygotes |
R914 |
T1406 |
T1407 |
nsubj |
We,generated |
R915 |
T1408 |
T1409 |
det |
an,allele |
R916 |
T1409 |
T1407 |
dobj |
allele,generated |
R917 |
T1410 |
T1409 |
nmod |
Xpd,allele |
R918 |
T1411 |
T1409 |
amod |
knock,allele |
R919 |
T1412 |
T1411 |
punct |
-,knock |
R920 |
T1413 |
T1411 |
prt |
in,knock |
R921 |
T1414 |
T1409 |
prep |
with,allele |
R922 |
T1415 |
T1416 |
det |
a,mutation |
R923 |
T1416 |
T1414 |
pobj |
mutation,with |
R924 |
T1417 |
T1416 |
compound |
point,mutation |
R925 |
T1418 |
T1416 |
acl |
encoding,mutation |
R926 |
T1419 |
T1420 |
det |
a,change |
R927 |
T1420 |
T1418 |
dobj |
change,encoding |
R928 |
T1421 |
T1420 |
amod |
single,change |
R929 |
T1422 |
T1423 |
compound |
amino,acid |
R930 |
T1423 |
T1420 |
compound |
acid,change |
R931 |
T1424 |
T1425 |
punct |
(,XPDG602D |
R932 |
T1425 |
T1420 |
parataxis |
XPDG602D,change |
R933 |
T1426 |
T1425 |
punct |
),XPDG602D |
R934 |
T1427 |
T1420 |
acl |
found,change |
R935 |
T1428 |
T1427 |
prep |
in,found |
R936 |
T1429 |
T1430 |
det |
the,patient |
R937 |
T1430 |
T1428 |
pobj |
patient,in |
R938 |
T1431 |
T1430 |
compound |
XPCS,patient |
R939 |
T1432 |
T1430 |
appos |
XPCS2,patient |
R940 |
T1433 |
T1434 |
punct |
(,1A |
R941 |
T1434 |
T1407 |
parataxis |
1A,generated |
R942 |
T1435 |
T1434 |
compound |
Figure,1A |
R943 |
T1436 |
T1437 |
punct |
–,1C |
R944 |
T1437 |
T1434 |
prep |
1C,1A |
R945 |
T1438 |
T1434 |
punct |
),1A |
R946 |
T1439 |
T1407 |
punct |
.,generated |
R947 |
T1441 |
T1442 |
compound |
mRNA,expression |
R948 |
T1442 |
T1443 |
nsubjpass |
expression,detected |
R949 |
T1444 |
T1442 |
prep |
from,expression |
R950 |
T1445 |
T1446 |
det |
the,allele |
R951 |
T1446 |
T1444 |
pobj |
allele,from |
R952 |
T1447 |
T1446 |
amod |
targeted,allele |
R953 |
T1448 |
T1443 |
aux |
could,detected |
R954 |
T1449 |
T1443 |
auxpass |
be,detected |
R955 |
T1450 |
T1443 |
prep |
in,detected |
R956 |
T1451 |
T1452 |
amod |
embryonic,cells |
R957 |
T1452 |
T1450 |
pobj |
cells,in |
R958 |
T1453 |
T1452 |
compound |
stem,cells |
R959 |
T1454 |
T1443 |
prep |
by,detected |
R960 |
T1455 |
T1456 |
compound |
RT,PCR |
R961 |
T1456 |
T1454 |
pobj |
PCR,by |
R962 |
T1457 |
T1456 |
punct |
-,PCR |
R963 |
T1458 |
T1459 |
punct |
(,1D |
R964 |
T1459 |
T1443 |
parataxis |
1D,detected |
R965 |
T1460 |
T1459 |
compound |
Figure,1D |
R966 |
T1461 |
T1459 |
punct |
),1D |
R967 |
T1462 |
T1443 |
punct |
", ",detected |
R968 |
T1463 |
T1464 |
mark |
although,reduced |
R969 |
T1464 |
T1443 |
advcl |
reduced,detected |
R970 |
T1465 |
T1464 |
nsubjpass |
expression,reduced |
R971 |
T1466 |
T1464 |
auxpass |
was,reduced |
R972 |
T1467 |
T1468 |
advmod |
approximately,5 |
R973 |
T1468 |
T1464 |
npadvmod |
5,reduced |
R974 |
T1469 |
T1468 |
punct |
-,5 |
R975 |
T1470 |
T1468 |
advmod |
fold,5 |
R976 |
T1471 |
T1464 |
advcl |
relative,reduced |
R977 |
T1472 |
T1471 |
prep |
to,relative |
R978 |
T1473 |
T1474 |
compound |
wt,levels |
R979 |
T1474 |
T1472 |
pobj |
levels,to |
R980 |
T1475 |
T1474 |
compound |
mRNA,levels |
R981 |
T1476 |
T1474 |
compound |
transcript,levels |
R982 |
T1477 |
T1478 |
mark |
as,determined |
R983 |
T1478 |
T1464 |
advcl |
determined,reduced |
R984 |
T1479 |
T1478 |
prep |
by,determined |
R985 |
T1480 |
T1479 |
pobj |
Northern,by |
R986 |
T1481 |
T1480 |
amod |
blotting,Northern |
R987 |
T1482 |
T1480 |
prep |
of,Northern |
R988 |
T1483 |
T1482 |
pobj |
RNA,of |
R989 |
T1484 |
T1483 |
prep |
from,RNA |
R990 |
T1485 |
T1486 |
det |
the,testis |
R991 |
T1486 |
T1484 |
pobj |
testis,from |
R992 |
T1487 |
T1486 |
prep |
of,testis |
R993 |
T1488 |
T1489 |
amod |
heterozygous,animals |
R994 |
T1489 |
T1487 |
pobj |
animals,of |
R995 |
T1490 |
T1491 |
punct |
(,1E |
R996 |
T1491 |
T1443 |
parataxis |
1E,detected |
R997 |
T1492 |
T1491 |
compound |
Figure,1E |
R998 |
T1493 |
T1491 |
punct |
),1E |
R999 |
T1494 |
T1443 |
punct |
.,detected |