Id |
Subject |
Object |
Predicate |
Lexical cue |
T565 |
13-25 |
JJ |
denotes |
Interallelic |
T566 |
26-41 |
NN |
denotes |
complementation |
T567 |
45-52 |
VBN |
denotes |
defined |
T568 |
42-44 |
VBZ |
denotes |
is |
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 |
T574 |
98-105 |
NNS |
denotes |
alleles |
T575 |
75-89 |
RB |
denotes |
differentially |
T576 |
90-97 |
VBN |
denotes |
mutated |
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 |
T582 |
146-149 |
MD |
denotes |
can |
T583 |
139-145 |
DT |
denotes |
either |
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 |
T590 |
297-307 |
VBN |
denotes |
considered |
T591 |
170-173 |
PRP$ |
denotes |
its |
T592 |
179-191 |
NN |
denotes |
universality |
T593 |
174-178 |
JJ |
denotes |
near |
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 |
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 |
T616 |
381-388 |
VBN |
denotes |
limited |
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 |
T625 |
389-391 |
IN |
denotes |
to |
T626 |
392-403 |
JJ |
denotes |
biochemical |
T627 |
419-426 |
NNS |
denotes |
studies |
T628 |
404-407 |
CC |
denotes |
and |
T629 |
408-412 |
NN |
denotes |
cell |
T630 |
413-418 |
VBN |
denotes |
based |
T631 |
412-413 |
HYPH |
denotes |
- |
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 |
T644 |
506-509 |
NN |
denotes |
CoA |
T645 |
505-506 |
HYPH |
denotes |
- |
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 |
T658 |
568-577 |
NN |
denotes |
phosphate |
T659 |
565-566 |
HYPH |
denotes |
- |
T660 |
566-567 |
CD |
denotes |
1 |
T661 |
567-568 |
HYPH |
denotes |
- |
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 |
T669 |
625-631 |
NN |
denotes |
mutase |
T670 |
621-624 |
NN |
denotes |
CoA |
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 |
T682 |
706-713 |
NNS |
denotes |
alleles |
T683 |
689-698 |
JJ |
denotes |
different |
T684 |
699-705 |
JJ |
denotes |
mutant |
T685 |
714-716 |
IN |
denotes |
of |
T686 |
717-720 |
DT |
denotes |
the |
T687 |
726-730 |
NN |
denotes |
gene |
T688 |
721-725 |
JJ |
denotes |
same |
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 |
T692 |
881-887 |
VB |
denotes |
result |
T693 |
735-738 |
DT |
denotes |
the |
T694 |
739-746 |
NN |
denotes |
absence |
T695 |
747-749 |
IN |
denotes |
of |
T696 |
750-751 |
DT |
denotes |
a |
T697 |
778-784 |
NN |
denotes |
allele |
T698 |
752-760 |
JJ |
denotes |
dominant |
T699 |
761-762 |
-LRB- |
denotes |
( |
T700 |
762-766 |
JJ |
denotes |
wild |
T701 |
767-771 |
NN |
denotes |
type |
T702 |
766-767 |
HYPH |
denotes |
- |
T703 |
772-773 |
-LRB- |
denotes |
[ |
T704 |
773-775 |
NN |
denotes |
wt |
T705 |
775-776 |
-RRB- |
denotes |
] |
T706 |
776-777 |
-RRB- |
denotes |
) |
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 |
T720 |
866-873 |
NNS |
denotes |
effects |
T721 |
864-865 |
'' |
denotes |
” |
T722 |
873-874 |
-RRB- |
denotes |
) |
T723 |
875-880 |
MD |
denotes |
could |
T724 |
888-890 |
IN |
denotes |
in |
T725 |
891-900 |
JJ |
denotes |
different |
T726 |
912-920 |
NNS |
denotes |
outcomes |
T727 |
901-911 |
JJ |
denotes |
phenotypic |
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 |
T734 |
1041-1047 |
VB |
denotes |
create |
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 |
T743 |
1200-1206 |
VBN |
denotes |
caused |
T744 |
1048-1050 |
DT |
denotes |
an |
T745 |
1065-1069 |
NN |
denotes |
bias |
T746 |
1051-1064 |
NN |
denotes |
ascertainment |
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 |
T760 |
1165-1172 |
NNS |
denotes |
effects |
T761 |
1155-1164 |
JJ |
denotes |
biallelic |
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 |
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 |
T786 |
1333-1343 |
NNS |
denotes |
components |
T787 |
1320-1323 |
CD |
denotes |
two |
T788 |
1324-1332 |
NN |
denotes |
helicase |
T789 |
1344-1346 |
IN |
denotes |
of |
T790 |
1347-1352 |
JJ |
denotes |
basal |
T791 |
1385-1388 |
NN |
denotes |
IIH |
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 |
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 |
T802 |
1429-1436 |
NN |
denotes |
complex |
T803 |
1400-1403 |
CD |
denotes |
ten |
T804 |
1404-1411 |
NN |
denotes |
subunit |
T805 |
1403-1404 |
HYPH |
denotes |
- |
T806 |
1411-1413 |
, |
denotes |
, |
T807 |
1413-1428 |
JJ |
denotes |
multifunctional |
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 |
T817 |
1509-1519 |
NN |
denotes |
initiation |
T818 |
1495-1508 |
NN |
denotes |
transcription |
T819 |
1520-1523 |
CC |
denotes |
and |
T820 |
1524-1527 |
NN |
denotes |
DNA |
T821 |
1535-1541 |
NN |
denotes |
repair |
T822 |
1528-1534 |
NN |
denotes |
damage |
T823 |
1542-1545 |
IN |
denotes |
via |
T824 |
1546-1549 |
DT |
denotes |
the |
T825 |
1583-1590 |
NN |
denotes |
pathway |
T826 |
1550-1560 |
NN |
denotes |
nucleotide |
T827 |
1570-1576 |
NN |
denotes |
repair |
T828 |
1561-1569 |
NN |
denotes |
excision |
T829 |
1577-1578 |
-LRB- |
denotes |
( |
T830 |
1578-1581 |
NN |
denotes |
NER |
T831 |
1581-1582 |
-RRB- |
denotes |
) |
T832 |
1591-1592 |
-LRB- |
denotes |
[ |
T833 |
1594-1595 |
CD |
denotes |
7 |
T834 |
1592-1593 |
CD |
denotes |
6 |
T835 |
1593-1594 |
, |
denotes |
, |
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 |
T840 |
1659-1669 |
VBN |
denotes |
associated |
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 |
T846 |
1646-1654 |
NN |
denotes |
function |
T847 |
1640-1645 |
NN |
denotes |
TFIIH |
T848 |
1655-1658 |
VBP |
denotes |
are |
T849 |
1670-1674 |
IN |
denotes |
with |
T850 |
1675-1677 |
NN |
denotes |
UV |
T851 |
1678-1687 |
JJ |
denotes |
sensitive |
T852 |
1677-1678 |
HYPH |
denotes |
- |
T853 |
1701-1710 |
NNS |
denotes |
disorders |
T854 |
1687-1689 |
, |
denotes |
, |
T855 |
1689-1700 |
JJ |
denotes |
multisystem |
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 |
T885 |
1834-1840 |
VBN |
denotes |
marked |
T886 |
1831-1833 |
VBZ |
denotes |
is |
T887 |
1841-1843 |
IN |
denotes |
by |
T888 |
1844-1847 |
NN |
denotes |
sun |
T889 |
1848-1855 |
VBN |
denotes |
induced |
T890 |
1847-1848 |
HYPH |
denotes |
- |
T891 |
1869-1878 |
NNS |
denotes |
anomalies |
T892 |
1856-1868 |
NN |
denotes |
pigmentation |
T893 |
1879-1882 |
CC |
denotes |
and |
T894 |
1883-1884 |
DT |
denotes |
a |
T895 |
1909-1918 |
NN |
denotes |
elevation |
T896 |
1885-1892 |
JJR |
denotes |
greater |
T897 |
1898-1903 |
CD |
denotes |
1,000 |
T898 |
1893-1897 |
IN |
denotes |
than |
T899 |
1904-1908 |
RB |
denotes |
fold |
T900 |
1903-1904 |
HYPH |
denotes |
- |
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 |
T909 |
1962-1969 |
VB |
denotes |
present |
T910 |
1953-1956 |
MD |
denotes |
can |
T911 |
1957-1961 |
RB |
denotes |
also |
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 |
T924 |
2061-2064 |
VBP |
denotes |
are |
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 |
T930 |
2055-2059 |
NN |
denotes |
hand |
T931 |
2049-2054 |
JJ |
denotes |
other |
T932 |
2059-2061 |
, |
denotes |
, |
T933 |
2065-2074 |
JJ |
denotes |
segmental |
T934 |
2085-2094 |
NNS |
denotes |
disorders |
T935 |
2075-2084 |
JJ |
denotes |
progeroid |
T936 |
2095-2108 |
VBN |
denotes |
characterised |
T937 |
2109-2111 |
IN |
denotes |
by |
T938 |
2112-2123 |
JJ |
denotes |
progressive |
T939 |
2142-2149 |
NN |
denotes |
failure |
T940 |
2124-2134 |
JJ |
denotes |
post-natal |
T941 |
2135-2141 |
NN |
denotes |
growth |
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 |
T953 |
2241-2255 |
NN |
denotes |
predisposition |
T954 |
2228-2233 |
JJ |
denotes |
clear |
T955 |
2234-2240 |
NN |
denotes |
cancer |
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 |
T964 |
2296-2303 |
VBP |
denotes |
display |
T965 |
2274-2278 |
IN |
denotes |
with |
T966 |
2279-2282 |
NN |
denotes |
TTD |
T967 |
2283-2295 |
RB |
denotes |
additionally |
T968 |
2304-2312 |
NN |
denotes |
hallmark |
T969 |
2339-2343 |
NN |
denotes |
hair |
T970 |
2313-2320 |
NN |
denotes |
sulphur |
T971 |
2321-2330 |
JJ |
denotes |
deficient |
T972 |
2320-2321 |
HYPH |
denotes |
- |
T973 |
2331-2338 |
JJ |
denotes |
brittle |
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 |
T986 |
2414-2420 |
NN |
denotes |
defect |
T987 |
2394-2399 |
JJ |
denotes |
basal |
T988 |
2400-2413 |
NN |
denotes |
transcription |
T989 |
2421-2423 |
IN |
denotes |
in |
T990 |
2424-2432 |
JJ |
denotes |
specific |
T991 |
2438-2443 |
NNS |
denotes |
types |
T992 |
2433-2437 |
NN |
denotes |
cell |
T993 |
2444-2445 |
-LRB- |
denotes |
[ |
T994 |
2448-2450 |
CD |
denotes |
17 |
T995 |
2445-2447 |
CD |
denotes |
16 |
T996 |
2447-2448 |
, |
denotes |
, |
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 |
T1001 |
2463-2471 |
NN |
denotes |
disorder |
T1002 |
2455-2462 |
JJ |
denotes |
related |
T1003 |
2603-2612 |
VBN |
denotes |
described |
T1004 |
2472-2476 |
IN |
denotes |
with |
T1005 |
2477-2480 |
DT |
denotes |
the |
T1006 |
2488-2502 |
NN |
denotes |
predisposition |
T1007 |
2481-2487 |
NN |
denotes |
cancer |
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 |
T1013 |
2546-2559 |
NNS |
denotes |
complications |
T1014 |
2527-2545 |
JJ |
denotes |
neurodevelopmental |
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 |
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 |
T1033 |
2628-2637 |
NNS |
denotes |
mutations |
T1034 |
2624-2627 |
NN |
denotes |
XPD |
T1035 |
2642-2652 |
VBN |
denotes |
associated |
T1036 |
2638-2641 |
VBP |
denotes |
are |
T1037 |
2653-2657 |
IN |
denotes |
with |
T1038 |
2658-2660 |
DT |
denotes |
an |
T1039 |
2679-2688 |
NN |
denotes |
phenotype |
T1040 |
2661-2670 |
JJ |
denotes |
exclusive |
T1041 |
2671-2678 |
NN |
denotes |
disease |
T1042 |
2689-2690 |
-LRB- |
denotes |
( |
T1043 |
2696-2704 |
NN |
denotes |
XPDR722W |
T1044 |
2690-2694 |
FW |
denotes |
e.g. |
T1045 |
2694-2696 |
, |
denotes |
, |
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 |
T1055 |
2749-2755 |
VBN |
denotes |
viewed |
T1056 |
2744-2748 |
RB |
denotes |
thus |
T1057 |
2756-2758 |
IN |
denotes |
as |
T1058 |
2759-2768 |
JJ |
denotes |
causative |
T1059 |
2769-2771 |
IN |
denotes |
of |
T1060 |
2772-2775 |
DT |
denotes |
the |
T1061 |
2790-2799 |
NNS |
denotes |
syndromes |
T1062 |
2776-2789 |
VBG |
denotes |
corresponding |
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 |
T1066 |
2858-2868 |
VBN |
denotes |
considered |
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 |
T1074 |
2869-2870 |
`` |
denotes |
“ |
T1075 |
2883-2890 |
NNS |
denotes |
alleles |
T1076 |
2870-2876 |
RB |
denotes |
likely |
T1077 |
2877-2881 |
JJ |
denotes |
null |
T1078 |
2881-2882 |
'' |
denotes |
” |
T1079 |
2891-2892 |
-LRB- |
denotes |
[ |
T1080 |
2895-2897 |
CD |
denotes |
20 |
T1081 |
2892-2894 |
CD |
denotes |
19 |
T1082 |
2894-2895 |
, |
denotes |
, |
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 |
T1087 |
2922-2926 |
VBP |
denotes |
fail |
T1088 |
2905-2907 |
IN |
denotes |
of |
T1089 |
2908-2913 |
DT |
denotes |
these |
T1090 |
2914-2921 |
NNS |
denotes |
alleles |
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 |
T1096 |
2993-2999 |
NN |
denotes |
strain |
T1097 |
2953-2960 |
JJ |
denotes |
haploid |
T1098 |
2961-2980 |
NNP |
denotes |
Schizosaccharomyces |
T1099 |
2981-2986 |
NNP |
denotes |
pombe |
T1100 |
2987-2992 |
NN |
denotes |
yeast |
T1101 |
3000-3004 |
IN |
denotes |
with |
T1102 |
3005-3006 |
DT |
denotes |
a |
T1103 |
3012-3020 |
NN |
denotes |
mutation |
T1104 |
3007-3011 |
JJ |
denotes |
null |
T1105 |
3021-3023 |
IN |
denotes |
in |
T1106 |
3024-3027 |
DT |
denotes |
the |
T1107 |
3042-3047 |
NN |
denotes |
rad15 |
T1108 |
3028-3031 |
NN |
denotes |
XPD |
T1109 |
3032-3041 |
NN |
denotes |
homologue |
T1110 |
3048-3051 |
CC |
denotes |
and |
T1111 |
3052-3055 |
VBP |
denotes |
are |
T1112 |
3061-3071 |
VBN |
denotes |
considered |
T1113 |
3056-3060 |
RB |
denotes |
thus |
T1114 |
3072-3078 |
JJ |
denotes |
devoid |
T1115 |
3079-3081 |
IN |
denotes |
of |
T1116 |
3082-3093 |
JJ |
denotes |
significant |
T1117 |
3105-3113 |
NN |
denotes |
activity |
T1118 |
3094-3104 |
JJ |
denotes |
biological |
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 |
T1126 |
3189-3196 |
VBZ |
denotes |
defines |
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 |
T1135 |
3197-3201 |
WP |
denotes |
what |
T1136 |
3205-3210 |
VBP |
denotes |
refer |
T1137 |
3202-3204 |
PRP |
denotes |
we |
T1138 |
3211-3213 |
IN |
denotes |
to |
T1139 |
3214-3216 |
IN |
denotes |
as |
T1140 |
3217-3218 |
DT |
denotes |
a |
T1141 |
3233-3241 |
NN |
denotes |
paradigm |
T1142 |
3219-3220 |
`` |
denotes |
“ |
T1143 |
3220-3231 |
JJ |
denotes |
monoallelic |
T1144 |
3231-3232 |
'' |
denotes |
” |
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 |
T1151 |
3420-3425 |
VBZ |
denotes |
casts |
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 |
T1160 |
3332-3340 |
NNS |
denotes |
patients |
T1161 |
3308-3323 |
NN |
denotes |
complementation |
T1162 |
3324-3329 |
NN |
denotes |
group |
T1163 |
3330-3331 |
NN |
denotes |
D |
T1164 |
3341-3345 |
IN |
denotes |
with |
T1165 |
3346-3354 |
JJ |
denotes |
atypical |
T1166 |
3363-3375 |
NN |
denotes |
presentation |
T1167 |
3355-3362 |
NN |
denotes |
disease |
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 |
, |
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 |
T1186 |
3469-3477 |
NN |
denotes |
paradigm |
T1187 |
3455-3456 |
DT |
denotes |
a |
T1188 |
3457-3468 |
JJ |
denotes |
monoallelic |
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 |
T1199 |
3554-3563 |
VBD |
denotes |
generated |
T1200 |
3549-3551 |
, |
denotes |
, |
T1201 |
3551-3553 |
PRP |
denotes |
we |
T1202 |
3564-3565 |
DT |
denotes |
a |
T1203 |
3576-3581 |
NN |
denotes |
model |
T1204 |
3566-3569 |
NN |
denotes |
TTD |
T1205 |
3570-3575 |
NN |
denotes |
mouse |
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 |
T1212 |
3620-3628 |
NN |
denotes |
syndrome |
T1213 |
3614-3619 |
JJ |
denotes |
human |
T1214 |
3629-3630 |
-LRB- |
denotes |
[ |
T1215 |
3633-3635 |
CD |
denotes |
21 |
T1216 |
3630-3632 |
CD |
denotes |
15 |
T1217 |
3632-3633 |
, |
denotes |
, |
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 |
T1222 |
3646-3652 |
VBP |
denotes |
report |
T1223 |
3643-3645 |
PRP |
denotes |
we |
T1224 |
3653-3656 |
DT |
denotes |
the |
T1225 |
3657-3667 |
NN |
denotes |
generation |
T1226 |
3668-3670 |
IN |
denotes |
of |
T1227 |
3671-3681 |
JJ |
denotes |
additional |
T1228 |
3693-3700 |
NNS |
denotes |
alleles |
T1229 |
3682-3688 |
JJ |
denotes |
mutant |
T1230 |
3689-3692 |
NN |
denotes |
Xpd |
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 |
T1243 |
3777-3787 |
VBN |
denotes |
associated |
T1244 |
3776-3777 |
HYPH |
denotes |
- |
T1245 |
3808-3814 |
NN |
denotes |
ageing |
T1246 |
3788-3797 |
JJ |
denotes |
premature |
T1247 |
3798-3807 |
JJ |
denotes |
segmental |
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 |
T1253 |
3856-3864 |
NN |
denotes |
capacity |
T1254 |
3845-3848 |
NN |
denotes |
DNA |
T1255 |
3849-3855 |
NN |
denotes |
repair |
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 |
T1264 |
3922-3927 |
NN |
denotes |
state |
T1265 |
3900-3908 |
JJ |
denotes |
compound |
T1266 |
3909-3921 |
NN |
denotes |
heterozygote |
T1267 |
3927-3928 |
. |
denotes |
. |
R246 |
T565 |
T566 |
amod |
Interallelic,complementation |
R247 |
T566 |
T567 |
nsubjpass |
complementation,defined |
R248 |
T568 |
T567 |
auxpass |
is,defined |
R249 |
T569 |
T567 |
prep |
as,defined |
R250 |
T570 |
T571 |
det |
the,ability |
R251 |
T571 |
T569 |
pobj |
ability,as |
R252 |
T572 |
T571 |
prep |
of,ability |
R253 |
T573 |
T574 |
nummod |
two,alleles |
R254 |
T574 |
T572 |
pobj |
alleles,of |
R255 |
T575 |
T576 |
advmod |
differentially,mutated |
R256 |
T576 |
T574 |
amod |
mutated,alleles |
R257 |
T577 |
T578 |
aux |
to,function |
R258 |
T578 |
T571 |
acl |
function,ability |
R259 |
T579 |
T578 |
advmod |
better,function |
R260 |
T580 |
T578 |
advmod |
together,function |
R261 |
T581 |
T582 |
mark |
than,can |
R263 |
T583 |
T582 |
nsubj |
either,can |
R264 |
T584 |
T582 |
prep |
on,can |
R265 |
T585 |
T586 |
poss |
its,own |
R266 |
T586 |
T584 |
pobj |
own,on |
R267 |
T587 |
T567 |
punct |
.,defined |
R268 |
T589 |
T590 |
prep |
Despite,considered |
R269 |
T591 |
T592 |
poss |
its,universality |
R271 |
T593 |
T592 |
amod |
near,universality |
R272 |
T594 |
T592 |
prep |
in,universality |
R273 |
T595 |
T596 |
amod |
lower,organisms |
R274 |
T596 |
T594 |
pobj |
organisms,in |
R275 |
T597 |
T598 |
punct |
[,1 |
R276 |
T598 |
T596 |
parataxis |
1,organisms |
R277 |
T599 |
T598 |
punct |
],1 |
R278 |
T600 |
T590 |
punct |
", ",considered |
R279 |
T601 |
T602 |
poss |
its,potential |
R280 |
T602 |
T590 |
nsubjpass |
potential,considered |
R281 |
T603 |
T604 |
aux |
to,contribute |
R282 |
T604 |
T602 |
acl |
contribute,potential |
R283 |
T605 |
T604 |
prep |
to,contribute |
R284 |
T606 |
T607 |
amod |
clinical,heterogeneity |
R285 |
T607 |
T605 |
pobj |
heterogeneity,to |
R286 |
T608 |
T607 |
prep |
in,heterogeneity |
R287 |
T609 |
T610 |
amod |
human,disease |
R288 |
T610 |
T608 |
pobj |
disease,in |
R289 |
T611 |
T590 |
auxpass |
is,considered |
R290 |
T612 |
T590 |
advmod |
seldom,considered |
R291 |
T613 |
T590 |
punct |
.,considered |
R292 |
T615 |
T616 |
nsubjpass |
Evidence,limited |
R293 |
T617 |
T615 |
prep |
of,Evidence |
R294 |
T618 |
T619 |
amod |
interallelic,complementation |
R295 |
T619 |
T617 |
pobj |
complementation,of |
R296 |
T620 |
T619 |
prep |
at,complementation |
R297 |
T621 |
T622 |
advmod |
clinically,relevant |
R298 |
T622 |
T623 |
amod |
relevant,loci |
R299 |
T623 |
T620 |
pobj |
loci,at |
R300 |
T624 |
T616 |
auxpass |
is,limited |
R301 |
T625 |
T616 |
prep |
to,limited |
R302 |
T626 |
T627 |
amod |
biochemical,studies |
R303 |
T627 |
T625 |
pobj |
studies,to |
R304 |
T628 |
T626 |
cc |
and,biochemical |
R305 |
T629 |
T630 |
npadvmod |
cell,based |
R306 |
T630 |
T626 |
conj |
based,biochemical |
R307 |
T631 |
T630 |
punct |
-,based |
R308 |
T632 |
T627 |
prep |
of,studies |
R309 |
T633 |
T634 |
det |
a,handful |
R310 |
T634 |
T632 |
pobj |
handful,of |
R311 |
T635 |
T634 |
prep |
of,handful |
R312 |
T636 |
T637 |
amod |
metabolic,disorders |
R313 |
T637 |
T635 |
pobj |
disorders,of |
R314 |
T638 |
T637 |
prep |
with,disorders |
R315 |
T639 |
T638 |
pobj |
defects,with |
R316 |
T640 |
T639 |
prep |
in,defects |
R317 |
T641 |
T640 |
pobj |
enzymes,in |
R318 |
T642 |
T641 |
prep |
including,enzymes |
R319 |
T643 |
T644 |
compound |
propinyl,CoA |
R321 |
T645 |
T644 |
punct |
-,CoA |
R322 |
T646 |
T642 |
pobj |
carboxylase,including |
R323 |
T647 |
T648 |
punct |
[,2 |
R324 |
T648 |
T646 |
parataxis |
2,carboxylase |
R325 |
T649 |
T648 |
punct |
],2 |
R326 |
T650 |
T646 |
punct |
", ",carboxylase |
R327 |
T651 |
T652 |
compound |
argininosuccinate,lyase |
R328 |
T652 |
T646 |
conj |
lyase,carboxylase |
R329 |
T653 |
T654 |
punct |
[,3 |
R330 |
T654 |
T652 |
parataxis |
3,lyase |
R331 |
T655 |
T654 |
punct |
],3 |
R332 |
T656 |
T652 |
punct |
", ",lyase |
R333 |
T657 |
T658 |
nmod |
galactose,phosphate |
R334 |
T658 |
T662 |
compound |
phosphate,uridylyltransferase |
R335 |
T659 |
T658 |
punct |
-,phosphate |
R336 |
T660 |
T658 |
nummod |
1,phosphate |
R337 |
T661 |
T658 |
punct |
-,phosphate |
R338 |
T662 |
T652 |
conj |
uridylyltransferase,lyase |
R339 |
T663 |
T664 |
punct |
[,4 |
R340 |
T664 |
T662 |
parataxis |
4,uridylyltransferase |
R341 |
T665 |
T664 |
punct |
],4 |
R342 |
T666 |
T662 |
punct |
", ",uridylyltransferase |
R343 |
T667 |
T662 |
cc |
and,uridylyltransferase |
R344 |
T668 |
T669 |
compound |
methylmalonyl,mutase |
R346 |
T670 |
T669 |
compound |
CoA,mutase |
R347 |
T671 |
T672 |
punct |
[,5 |
R348 |
T672 |
T669 |
parataxis |
5,mutase |
R349 |
T673 |
T672 |
punct |
],5 |
R350 |
T674 |
T616 |
punct |
.,limited |
R351 |
T676 |
T677 |
amod |
Compound,heterozygotes |
R352 |
T677 |
T678 |
nsubj |
heterozygotes,are |
R353 |
T679 |
T678 |
attr |
individuals,are |
R354 |
T680 |
T679 |
acl |
carrying,individuals |
R355 |
T681 |
T682 |
nummod |
two,alleles |
R356 |
T682 |
T680 |
dobj |
alleles,carrying |
R357 |
T683 |
T682 |
amod |
different,alleles |
R358 |
T684 |
T682 |
amod |
mutant,alleles |
R359 |
T685 |
T682 |
prep |
of,alleles |
R360 |
T686 |
T687 |
det |
the,gene |
R362 |
T688 |
T687 |
amod |
same,gene |
R363 |
T689 |
T678 |
punct |
.,are |
R364 |
T691 |
T692 |
prep |
In,result |
R365 |
T693 |
T694 |
det |
the,absence |
R366 |
T694 |
T691 |
pobj |
absence,In |
R367 |
T695 |
T694 |
prep |
of,absence |
R368 |
T696 |
T697 |
det |
a,allele |
R369 |
T697 |
T695 |
pobj |
allele,of |
R370 |
T698 |
T697 |
amod |
dominant,allele |
R371 |
T699 |
T697 |
punct |
(,allele |
R372 |
T700 |
T701 |
amod |
wild,type |
R373 |
T701 |
T697 |
nmod |
type,allele |
R374 |
T702 |
T701 |
punct |
-,type |
R375 |
T703 |
T701 |
punct |
[,type |
R376 |
T704 |
T701 |
appos |
wt,type |
R377 |
T705 |
T697 |
punct |
],allele |
R378 |
T706 |
T697 |
punct |
),allele |
R379 |
T707 |
T692 |
punct |
", ",result |
R380 |
T708 |
T709 |
amod |
genetic,interactions |
R381 |
T709 |
T692 |
nsubj |
interactions,result |
R382 |
T710 |
T709 |
prep |
between,interactions |
R383 |
T711 |
T712 |
amod |
recessive,alleles |
R384 |
T712 |
T710 |
pobj |
alleles,between |
R385 |
T713 |
T709 |
punct |
(,interactions |
R386 |
T714 |
T709 |
acl |
referred,interactions |
R387 |
T715 |
T714 |
prep |
to,referred |
R388 |
T716 |
T714 |
advmod |
here,referred |
R389 |
T717 |
T714 |
prep |
as,referred |
R390 |
T718 |
T717 |
punct |
“,as |
R391 |
T719 |
T720 |
amod |
biallelic,effects |
R393 |
T721 |
T720 |
punct |
”,effects |
R394 |
T722 |
T692 |
punct |
),result |
R395 |
T723 |
T692 |
aux |
could,result |
R396 |
T724 |
T692 |
prep |
in,result |
R397 |
T725 |
T726 |
amod |
different,outcomes |
R399 |
T727 |
T726 |
amod |
phenotypic,outcomes |
R400 |
T728 |
T726 |
prep |
including,outcomes |
R401 |
T729 |
T730 |
amod |
interallelic,complementation |
R402 |
T730 |
T728 |
pobj |
complementation,including |
R403 |
T731 |
T692 |
punct |
.,result |
R404 |
T733 |
T734 |
mark |
Although,create |
R405 |
T734 |
T743 |
advcl |
create,caused |
R406 |
T735 |
T734 |
nsubj |
amelioration,create |
R407 |
T736 |
T735 |
prep |
of,amelioration |
R408 |
T737 |
T738 |
compound |
disease,symptoms |
R409 |
T738 |
T736 |
pobj |
symptoms,of |
R410 |
T739 |
T735 |
prep |
by,amelioration |
R411 |
T740 |
T741 |
amod |
interallelic,complementation |
R412 |
T741 |
T739 |
pobj |
complementation,by |
R413 |
T742 |
T734 |
aux |
would,create |
R414 |
T744 |
T745 |
det |
an,bias |
R416 |
T746 |
T745 |
compound |
ascertainment,bias |
R417 |
T747 |
T734 |
prep |
in,create |
R418 |
T748 |
T749 |
det |
the,clinic |
R419 |
T749 |
T747 |
pobj |
clinic,in |
R420 |
T750 |
T743 |
punct |
", ",caused |
R421 |
T751 |
T752 |
det |
the,lack |
R422 |
T752 |
T743 |
nsubjpass |
lack,caused |
R423 |
T753 |
T752 |
prep |
of,lack |
R424 |
T754 |
T753 |
pobj |
evidence,of |
R425 |
T755 |
T754 |
prep |
concerning,evidence |
R426 |
T756 |
T757 |
amod |
interallelic,complementation |
R427 |
T757 |
T755 |
pobj |
complementation,concerning |
R428 |
T758 |
T757 |
cc |
or,complementation |
R429 |
T759 |
T760 |
amod |
other,effects |
R431 |
T761 |
T760 |
amod |
biallelic,effects |
R432 |
T762 |
T757 |
prep |
in,complementation |
R433 |
T763 |
T764 |
amod |
human,disease |
R434 |
T764 |
T762 |
pobj |
disease,in |
R435 |
T765 |
T743 |
auxpass |
is,caused |
R436 |
T766 |
T743 |
advmod |
likely,caused |
R437 |
T767 |
T743 |
agent |
by,caused |
R438 |
T768 |
T769 |
det |
the,difficulty |
R439 |
T769 |
T767 |
pobj |
difficulty,by |
R440 |
T770 |
T769 |
prep |
in,difficulty |
R441 |
T771 |
T770 |
pcomp |
distinguishing,in |
R442 |
T772 |
T773 |
amod |
such,effects |
R443 |
T773 |
T771 |
dobj |
effects,distinguishing |
R444 |
T774 |
T771 |
prep |
from,distinguishing |
R445 |
T775 |
T774 |
pobj |
environment,from |
R446 |
T776 |
T775 |
cc |
and,environment |
R447 |
T777 |
T778 |
amod |
genetic,background |
R448 |
T778 |
T775 |
conj |
background,environment |
R449 |
T779 |
T743 |
punct |
.,caused |
R450 |
T781 |
T782 |
nsubj |
XPD,encodes |
R451 |
T783 |
T782 |
dobj |
one,encodes |
R452 |
T784 |
T783 |
prep |
of,one |
R453 |
T785 |
T786 |
det |
the,components |
R454 |
T786 |
T784 |
pobj |
components,of |
R455 |
T787 |
T786 |
nummod |
two,components |
R456 |
T788 |
T786 |
compound |
helicase,components |
R457 |
T789 |
T786 |
prep |
of,components |
R458 |
T790 |
T791 |
amod |
basal,IIH |
R459 |
T791 |
T789 |
pobj |
IIH,of |
R460 |
T792 |
T791 |
nmod |
transcription,IIH |
R461 |
T793 |
T792 |
punct |
/,transcription |
R462 |
T794 |
T795 |
compound |
DNA,repair |
R463 |
T795 |
T792 |
appos |
repair,transcription |
R464 |
T796 |
T791 |
compound |
factor,IIH |
R465 |
T797 |
T791 |
punct |
(,IIH |
R466 |
T798 |
T791 |
appos |
TFIIH,IIH |
R467 |
T799 |
T783 |
punct |
),one |
R468 |
T800 |
T783 |
punct |
", ",one |
R469 |
T801 |
T802 |
det |
a,complex |
R470 |
T802 |
T783 |
appos |
complex,one |
R471 |
T803 |
T804 |
nummod |
ten,subunit |
R472 |
T804 |
T802 |
nmod |
subunit,complex |
R473 |
T805 |
T804 |
punct |
-,subunit |
R474 |
T806 |
T802 |
punct |
", ",complex |
R475 |
T807 |
T802 |
amod |
multifunctional,complex |
R476 |
T808 |
T809 |
dep |
that,is |
R477 |
T809 |
T802 |
relcl |
is,complex |
R478 |
T810 |
T809 |
acomp |
essential,is |
R479 |
T811 |
T810 |
prep |
for,essential |
R480 |
T812 |
T813 |
amod |
multiple,processes |
R481 |
T813 |
T811 |
pobj |
processes,for |
R482 |
T814 |
T813 |
punct |
", ",processes |
R483 |
T815 |
T813 |
prep |
including,processes |
R484 |
T816 |
T817 |
amod |
basal,initiation |
R486 |
T818 |
T817 |
compound |
transcription,initiation |
R487 |
T819 |
T817 |
cc |
and,initiation |
R488 |
T820 |
T821 |
compound |
DNA,repair |
R490 |
T822 |
T821 |
compound |
damage,repair |
R491 |
T823 |
T821 |
prep |
via,repair |
R492 |
T824 |
T825 |
det |
the,pathway |
R493 |
T825 |
T823 |
pobj |
pathway,via |
R494 |
T826 |
T827 |
nmod |
nucleotide,repair |
R495 |
T827 |
T825 |
nmod |
repair,pathway |
R496 |
T828 |
T827 |
nmod |
excision,repair |
R497 |
T829 |
T827 |
punct |
(,repair |
R498 |
T830 |
T827 |
appos |
NER,repair |
R499 |
T831 |
T825 |
punct |
),pathway |
R500 |
T832 |
T833 |
punct |
[,7 |
R501 |
T833 |
T783 |
parataxis |
7,one |
R502 |
T834 |
T833 |
nummod |
6,7 |
R503 |
T835 |
T833 |
punct |
",",7 |
R504 |
T836 |
T833 |
punct |
],7 |
R505 |
T837 |
T782 |
punct |
.,encodes |
R506 |
T839 |
T840 |
nsubjpass |
Alterations,associated |
R507 |
T841 |
T839 |
prep |
in,Alterations |
R508 |
T842 |
T841 |
pobj |
XPD,in |
R509 |
T843 |
T839 |
acl |
resulting,Alterations |
R510 |
T844 |
T843 |
prep |
in,resulting |
R511 |
T845 |
T846 |
amod |
defective,function |
R513 |
T847 |
T846 |
compound |
TFIIH,function |
R514 |
T848 |
T840 |
auxpass |
are,associated |
R515 |
T849 |
T840 |
prep |
with,associated |
R516 |
T850 |
T851 |
npadvmod |
UV,sensitive |
R518 |
T852 |
T851 |
punct |
-,sensitive |
R519 |
T853 |
T849 |
pobj |
disorders,with |
R520 |
T854 |
T853 |
punct |
", ",disorders |
R521 |
T855 |
T853 |
amod |
multisystem,disorders |
R522 |
T856 |
T853 |
prep |
including,disorders |
R523 |
T857 |
T858 |
compound |
xeroderma,pigmentosum |
R524 |
T858 |
T856 |
pobj |
pigmentosum,including |
R525 |
T859 |
T858 |
punct |
(,pigmentosum |
R526 |
T860 |
T858 |
appos |
XP,pigmentosum |
R527 |
T861 |
T858 |
punct |
),pigmentosum |
R528 |
T862 |
T858 |
punct |
", ",pigmentosum |
R529 |
T863 |
T858 |
conj |
XP,pigmentosum |
R530 |
T864 |
T863 |
acl |
combined,XP |
R531 |
T865 |
T864 |
prep |
with,combined |
R532 |
T866 |
T867 |
compound |
Cockayne,syndrome |
R533 |
T867 |
T865 |
pobj |
syndrome,with |
R534 |
T868 |
T867 |
punct |
(,syndrome |
R535 |
T869 |
T867 |
appos |
CS,syndrome |
R536 |
T870 |
T863 |
punct |
),XP |
R537 |
T871 |
T863 |
punct |
", ",XP |
R538 |
T872 |
T863 |
cc |
and,XP |
R539 |
T873 |
T863 |
conj |
trichothiodystrophy,XP |
R540 |
T874 |
T873 |
punct |
(,trichothiodystrophy |
R541 |
T875 |
T873 |
appos |
TTD,trichothiodystrophy |
R542 |
T876 |
T840 |
punct |
),associated |
R543 |
T877 |
T878 |
punct |
[,8 |
R544 |
T878 |
T840 |
parataxis |
8,associated |
R545 |
T879 |
T880 |
punct |
–,10 |
R546 |
T880 |
T878 |
prep |
10,8 |
R547 |
T881 |
T878 |
punct |
],8 |
R548 |
T882 |
T840 |
punct |
.,associated |
R549 |
T884 |
T885 |
nsubjpass |
XP,marked |
R550 |
T886 |
T885 |
auxpass |
is,marked |
R551 |
T887 |
T885 |
agent |
by,marked |
R552 |
T888 |
T889 |
npadvmod |
sun,induced |
R554 |
T890 |
T889 |
punct |
-,induced |
R556 |
T892 |
T891 |
compound |
pigmentation,anomalies |
R557 |
T893 |
T891 |
cc |
and,anomalies |
R558 |
T894 |
T895 |
det |
a,elevation |
R559 |
T895 |
T891 |
conj |
elevation,anomalies |
R560 |
T896 |
T897 |
amod |
greater,"1,000" |
R561 |
T897 |
T899 |
quantmod |
"1,000",fold |
R562 |
T898 |
T897 |
quantmod |
than,"1,000" |
R563 |
T899 |
T895 |
nummod |
fold,elevation |
R564 |
T900 |
T899 |
punct |
-,fold |
R565 |
T901 |
T895 |
prep |
in,elevation |
R566 |
T902 |
T903 |
compound |
skin,cancer |
R567 |
T903 |
T904 |
compound |
cancer,risk |
R568 |
T904 |
T901 |
pobj |
risk,in |
R569 |
T905 |
T885 |
punct |
.,marked |
R570 |
T907 |
T908 |
amod |
Severe,cases |
R571 |
T908 |
T909 |
nsubj |
cases,present |
R572 |
T910 |
T909 |
aux |
can,present |
R573 |
T911 |
T909 |
advmod |
also,present |
R574 |
T912 |
T909 |
prep |
with,present |
R575 |
T913 |
T914 |
compound |
growth,retardation |
R576 |
T914 |
T912 |
pobj |
retardation,with |
R577 |
T915 |
T914 |
cc |
and,retardation |
R578 |
T916 |
T917 |
amod |
primary,neurodegeneration |
R579 |
T917 |
T914 |
conj |
neurodegeneration,retardation |
R580 |
T918 |
T919 |
punct |
[,11 |
R581 |
T919 |
T909 |
parataxis |
11,present |
R582 |
T920 |
T919 |
punct |
],11 |
R583 |
T921 |
T909 |
punct |
.,present |
R584 |
T923 |
T924 |
nsubj |
CS,are |
R585 |
T925 |
T923 |
cc |
and,CS |
R586 |
T926 |
T923 |
conj |
TTD,CS |
R587 |
T927 |
T924 |
punct |
", ",are |
R588 |
T928 |
T924 |
prep |
on,are |
R589 |
T929 |
T930 |
det |
the,hand |
R591 |
T931 |
T930 |
amod |
other,hand |
R592 |
T932 |
T924 |
punct |
", ",are |
R593 |
T933 |
T934 |
amod |
segmental,disorders |
R595 |
T935 |
T934 |
amod |
progeroid,disorders |
R596 |
T936 |
T934 |
acl |
characterised,disorders |
R597 |
T937 |
T936 |
agent |
by,characterised |
R598 |
T938 |
T939 |
amod |
progressive,failure |
R599 |
T939 |
T937 |
pobj |
failure,by |
R600 |
T940 |
T939 |
amod |
post-natal,failure |
R601 |
T941 |
T939 |
compound |
growth,failure |
R602 |
T942 |
T939 |
cc |
and,failure |
R603 |
T943 |
T944 |
amod |
primary,demyelination |
R604 |
T944 |
T939 |
conj |
demyelination,failure |
R605 |
T945 |
T944 |
acl |
resulting,demyelination |
R606 |
T946 |
T945 |
prep |
in,resulting |
R607 |
T947 |
T948 |
amod |
severe,neurodysfunction |
R608 |
T948 |
T946 |
pobj |
neurodysfunction,in |
R609 |
T949 |
T924 |
punct |
", ",are |
R610 |
T950 |
T951 |
cc |
but,without |
R611 |
T951 |
T924 |
prep |
without,are |
R612 |
T952 |
T953 |
det |
a,predisposition |
R613 |
T953 |
T951 |
pobj |
predisposition,without |
R614 |
T954 |
T953 |
amod |
clear,predisposition |
R615 |
T955 |
T953 |
compound |
cancer,predisposition |
R616 |
T956 |
T957 |
punct |
[,12 |
R617 |
T957 |
T924 |
parataxis |
12,are |
R618 |
T958 |
T959 |
punct |
–,15 |
R619 |
T959 |
T957 |
prep |
15,12 |
R620 |
T960 |
T957 |
punct |
],12 |
R621 |
T961 |
T924 |
punct |
.,are |
R622 |
T963 |
T964 |
nsubj |
Patients,display |
R623 |
T965 |
T963 |
prep |
with,Patients |
R624 |
T966 |
T965 |
pobj |
TTD,with |
R625 |
T967 |
T964 |
advmod |
additionally,display |
R626 |
T968 |
T969 |
nmod |
hallmark,hair |
R627 |
T969 |
T964 |
dobj |
hair,display |
R628 |
T970 |
T971 |
npadvmod |
sulphur,deficient |
R629 |
T971 |
T969 |
amod |
deficient,hair |
R630 |
T972 |
T971 |
punct |
-,deficient |
R631 |
T973 |
T969 |
amod |
brittle,hair |
R632 |
T974 |
T969 |
cc |
and,hair |
R633 |
T975 |
T969 |
conj |
nails,hair |
R634 |
T976 |
T969 |
cc |
and,hair |
R635 |
T977 |
T978 |
amod |
scaling,skin |
R636 |
T978 |
T969 |
conj |
skin,hair |
R637 |
T979 |
T980 |
punct |
[,13 |
R638 |
T980 |
T969 |
parataxis |
13,hair |
R639 |
T981 |
T980 |
punct |
],13 |
R640 |
T982 |
T969 |
punct |
", ",hair |
R641 |
T983 |
T969 |
acl |
resulting,hair |
R642 |
T984 |
T983 |
prep |
from,resulting |
R643 |
T985 |
T986 |
det |
a,defect |
R644 |
T986 |
T984 |
pobj |
defect,from |
R645 |
T987 |
T986 |
amod |
basal,defect |
R646 |
T988 |
T986 |
compound |
transcription,defect |
R647 |
T989 |
T986 |
prep |
in,defect |
R648 |
T990 |
T991 |
amod |
specific,types |
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 |
R659 |
T1002 |
T1001 |
amod |
related,disorder |
R660 |
T1004 |
T1001 |
prep |
with,disorder |
R661 |
T1005 |
T1006 |
det |
the,predisposition |
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 |
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 |
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 |
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 |
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 |
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 |
R763 |
T1113 |
T1112 |
advmod |
thus,considered |
R764 |
T1114 |
T1112 |
oprd |
devoid,considered |
R765 |
T1115 |
T1114 |
prep |
of,devoid |
R766 |
T1116 |
T1117 |
amod |
significant,activity |
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 |
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 |
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 |
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 |
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 |
R262 |
T582 |
T578 |
advcl |
can,function |
R270 |
T592 |
T589 |
pobj |
universality,Despite |
R320 |
T644 |
T646 |
compound |
CoA,carboxylase |
R345 |
T669 |
T662 |
conj |
mutase,uridylyltransferase |
R361 |
T687 |
T685 |
pobj |
gene,of |
R392 |
T720 |
T717 |
pobj |
effects,as |
R398 |
T726 |
T724 |
pobj |
outcomes,in |
R415 |
T745 |
T734 |
dobj |
bias,create |
R430 |
T760 |
T757 |
conj |
effects,complementation |
R485 |
T817 |
T815 |
pobj |
initiation,including |
R489 |
T821 |
T817 |
conj |
repair,initiation |
R512 |
T846 |
T844 |
pobj |
function,in |
R517 |
T851 |
T853 |
amod |
sensitive,disorders |
R553 |
T889 |
T891 |
amod |
induced,anomalies |
R555 |
T891 |
T887 |
pobj |
anomalies,by |
R590 |
T930 |
T928 |
pobj |
hand,on |
R594 |
T934 |
T924 |
attr |
disorders,are |
R649 |
T991 |
T989 |
pobj |
types,in |
R658 |
T1001 |
T1003 |
nsubjpass |
disorder,described |
R662 |
T1006 |
T1004 |
pobj |
predisposition,with |
R669 |
T1013 |
T1011 |
pobj |
complications,with |
R688 |
T1033 |
T1035 |
nsubjpass |
mutations,associated |
R709 |
T1055 |
T1035 |
conj |
viewed,associated |
R715 |
T1061 |
T1059 |
pobj |
syndromes,of |
R753 |
T1103 |
T1101 |
pobj |
mutation,with |
R762 |
T1112 |
T1087 |
conj |
considered,fail |
R767 |
T1117 |
T1115 |
pobj |
activity,of |
R784 |
T1136 |
T1126 |
ccomp |
refer,defines |
R812 |
T1166 |
T1164 |
pobj |
presentation,with |
R856 |
T1212 |
T1210 |
dobj |
syndrome,phenocopies |
R885 |
T1243 |
T1245 |
amod |
associated,ageing |