Id |
Subject |
Object |
Predicate |
Lexical cue |
T5658 |
309-314 |
NN |
denotes |
rad15 |
T5607 |
0-1 |
DT |
denotes |
A |
T5608 |
12-20 |
NN |
denotes |
Paradigm |
T5609 |
2-11 |
JJ |
denotes |
Biallelic |
T5610 |
21-24 |
IN |
denotes |
for |
T5611 |
25-28 |
NN |
denotes |
XPD |
T5612 |
29-38 |
NNS |
denotes |
Disorders |
T5613 |
38-320 |
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 |
39-47 |
RB |
denotes |
Recently |
T5615 |
116-129 |
VBN |
denotes |
characterised |
T5616 |
47-49 |
, |
denotes |
, |
T5617 |
49-57 |
NN |
denotes |
proteins |
T5618 |
58-69 |
VBG |
denotes |
originating |
T5619 |
70-74 |
IN |
denotes |
from |
T5620 |
75-83 |
VBN |
denotes |
presumed |
T5621 |
89-96 |
NNS |
denotes |
alleles |
T5622 |
84-88 |
JJ |
denotes |
null |
T5623 |
97-101 |
VBD |
denotes |
were |
T5624 |
102-115 |
RB |
denotes |
biochemically |
T5625 |
130-132 |
IN |
denotes |
as |
T5626 |
133-141 |
JJ |
denotes |
inactive |
T5627 |
142-144 |
IN |
denotes |
in |
T5628 |
145-150 |
JJ |
denotes |
basal |
T5629 |
151-164 |
NN |
denotes |
transcription |
T5630 |
165-166 |
-LRB- |
denotes |
[ |
T5631 |
166-168 |
CD |
denotes |
27 |
T5632 |
168-169 |
-RRB- |
denotes |
] |
T5633 |
169-171 |
, |
denotes |
, |
T5634 |
171-180 |
VBG |
denotes |
providing |
T5635 |
181-183 |
DT |
denotes |
an |
T5636 |
184-195 |
NN |
denotes |
explanation |
T5637 |
196-198 |
IN |
denotes |
as |
T5638 |
199-201 |
IN |
denotes |
to |
T5639 |
202-205 |
WRB |
denotes |
why |
T5640 |
220-226 |
VBD |
denotes |
failed |
T5641 |
206-211 |
DT |
denotes |
these |
T5642 |
212-219 |
NNS |
denotes |
alleles |
T5643 |
227-229 |
TO |
denotes |
to |
T5644 |
230-236 |
VB |
denotes |
rescue |
T5645 |
237-246 |
NN |
denotes |
lethality |
T5646 |
247-249 |
IN |
denotes |
in |
T5647 |
250-257 |
JJ |
denotes |
haploid |
T5648 |
261-266 |
FW |
denotes |
pombe |
T5649 |
258-260 |
FW |
denotes |
S. |
T5650 |
267-271 |
IN |
denotes |
with |
T5651 |
272-273 |
DT |
denotes |
a |
T5652 |
279-287 |
NN |
denotes |
mutation |
T5653 |
274-278 |
JJ |
denotes |
null |
T5654 |
288-290 |
IN |
denotes |
in |
T5655 |
291-294 |
DT |
denotes |
the |
T5656 |
299-308 |
NN |
denotes |
homologue |
T5657 |
295-298 |
NN |
denotes |
XPD |
T5659 |
315-316 |
-LRB- |
denotes |
[ |
T5660 |
316-318 |
CD |
denotes |
19 |
T5661 |
318-319 |
-RRB- |
denotes |
] |
T5662 |
319-320 |
. |
denotes |
. |
T5663 |
320-552 |
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 |
321-324 |
PRP$ |
denotes |
Our |
T5665 |
325-329 |
NNS |
denotes |
data |
T5666 |
330-337 |
VBP |
denotes |
suggest |
T5667 |
338-342 |
IN |
denotes |
that |
T5668 |
447-451 |
VB |
denotes |
have |
T5669 |
343-350 |
JJ |
denotes |
certain |
T5670 |
365-372 |
NNS |
denotes |
alleles |
T5671 |
351-359 |
VBN |
denotes |
presumed |
T5672 |
360-364 |
JJ |
denotes |
null |
T5673 |
372-374 |
, |
denotes |
, |
T5674 |
374-382 |
IN |
denotes |
although |
T5675 |
383-389 |
JJ |
denotes |
unable |
T5676 |
390-392 |
IN |
denotes |
on |
T5677 |
406-413 |
VB |
denotes |
support |
T5678 |
393-398 |
PRP$ |
denotes |
their |
T5679 |
399-402 |
NN |
denotes |
own |
T5680 |
403-405 |
TO |
denotes |
to |
T5681 |
414-419 |
JJ |
denotes |
basal |
T5682 |
420-433 |
NN |
denotes |
transcription |
T5683 |
433-435 |
, |
denotes |
, |
T5684 |
435-438 |
MD |
denotes |
may |
T5685 |
439-441 |
IN |
denotes |
in |
T5686 |
442-446 |
NN |
denotes |
fact |
T5687 |
452-453 |
DT |
denotes |
a |
T5688 |
466-472 |
NN |
denotes |
impact |
T5689 |
454-465 |
JJ |
denotes |
substantial |
T5690 |
473-475 |
IN |
denotes |
on |
T5691 |
476-483 |
NN |
denotes |
disease |
T5692 |
484-491 |
NN |
denotes |
outcome |
T5693 |
492-494 |
IN |
denotes |
in |
T5694 |
495-503 |
NN |
denotes |
compound |
T5695 |
517-523 |
NNS |
denotes |
humans |
T5696 |
504-516 |
JJ |
denotes |
heterozygous |
T5697 |
523-525 |
, |
denotes |
, |
T5698 |
525-527 |
IN |
denotes |
as |
T5699 |
536-538 |
IN |
denotes |
in |
T5700 |
528-532 |
PRP |
denotes |
they |
T5701 |
533-535 |
VBP |
denotes |
do |
T5702 |
539-544 |
NN |
denotes |
mouse |
T5703 |
545-551 |
NNS |
denotes |
models |
T5704 |
551-552 |
. |
denotes |
. |
T5705 |
552-761 |
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 |
553-561 |
JJ |
denotes |
Clinical |
T5707 |
562-570 |
NN |
denotes |
evidence |
T5708 |
601-606 |
VBZ |
denotes |
comes |
T5709 |
571-573 |
IN |
denotes |
in |
T5710 |
574-581 |
NN |
denotes |
support |
T5711 |
582-584 |
IN |
denotes |
of |
T5712 |
585-589 |
DT |
denotes |
this |
T5713 |
590-600 |
NN |
denotes |
hypothesis |
T5714 |
607-611 |
IN |
denotes |
from |
T5715 |
612-613 |
DT |
denotes |
a |
T5716 |
614-620 |
NN |
denotes |
number |
T5717 |
621-623 |
IN |
denotes |
of |
T5718 |
624-626 |
NN |
denotes |
XP |
T5719 |
651-659 |
NNS |
denotes |
patients |
T5720 |
627-642 |
NN |
denotes |
complementation |
T5721 |
643-648 |
NN |
denotes |
group |
T5722 |
649-650 |
NN |
denotes |
D |
T5723 |
660-664 |
WDT |
denotes |
that |
T5724 |
672-675 |
VB |
denotes |
fit |
T5725 |
665-667 |
VBP |
denotes |
do |
T5726 |
668-671 |
RB |
denotes |
not |
T5727 |
676-682 |
IN |
denotes |
within |
T5728 |
683-686 |
DT |
denotes |
the |
T5729 |
687-696 |
NN |
denotes |
framework |
T5730 |
697-699 |
IN |
denotes |
of |
T5731 |
700-703 |
DT |
denotes |
the |
T5732 |
724-732 |
NN |
denotes |
paradigm |
T5733 |
704-711 |
JJ |
denotes |
current |
T5734 |
712-723 |
JJ |
denotes |
monoallelic |
T5735 |
733-735 |
IN |
denotes |
of |
T5736 |
736-739 |
NN |
denotes |
XPD |
T5737 |
740-749 |
NNS |
denotes |
disorders |
T5738 |
750-751 |
-LRB- |
denotes |
( |
T5739 |
751-757 |
NN |
denotes |
Figure |
T5740 |
758-759 |
CD |
denotes |
5 |
T5741 |
759-760 |
-RRB- |
denotes |
) |
T5742 |
760-761 |
. |
denotes |
. |
T5743 |
761-1189 |
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 |
762-764 |
IN |
denotes |
In |
T5745 |
1060-1063 |
VBD |
denotes |
had |
T5746 |
765-773 |
NN |
denotes |
contrast |
T5747 |
774-776 |
IN |
denotes |
to |
T5748 |
777-780 |
CD |
denotes |
two |
T5749 |
800-808 |
NNS |
denotes |
patients |
T5750 |
781-791 |
JJ |
denotes |
hemizygous |
T5751 |
792-799 |
NN |
denotes |
XPDXPCS |
T5752 |
809-817 |
VBG |
denotes |
carrying |
T5753 |
818-821 |
DT |
denotes |
the |
T5754 |
852-859 |
NNS |
denotes |
alleles |
T5755 |
822-829 |
NN |
denotes |
XPDG47R |
T5756 |
843-851 |
VBG |
denotes |
encoding |
T5757 |
829-830 |
HYPH |
denotes |
- |
T5758 |
831-833 |
CC |
denotes |
or |
T5759 |
834-842 |
NN |
denotes |
XPDR666W |
T5760 |
842-843 |
HYPH |
denotes |
- |
T5761 |
860-863 |
WP |
denotes |
who |
T5762 |
864-868 |
VBD |
denotes |
died |
T5763 |
869-871 |
IN |
denotes |
of |
T5764 |
872-875 |
DT |
denotes |
the |
T5765 |
876-883 |
NN |
denotes |
disease |
T5766 |
884-890 |
IN |
denotes |
before |
T5767 |
891-892 |
CD |
denotes |
2 |
T5768 |
893-894 |
NNS |
denotes |
y |
T5769 |
895-897 |
IN |
denotes |
of |
T5770 |
898-901 |
NN |
denotes |
age |
T5771 |
901-903 |
, |
denotes |
, |
T5772 |
903-906 |
CD |
denotes |
two |
T5773 |
937-945 |
NNS |
denotes |
patients |
T5774 |
907-915 |
JJ |
denotes |
compound |
T5775 |
916-928 |
JJ |
denotes |
heterozygous |
T5776 |
929-936 |
NN |
denotes |
XPDXPCS |
T5777 |
946-954 |
VBG |
denotes |
carrying |
T5778 |
955-958 |
DT |
denotes |
the |
T5779 |
994-1001 |
NNS |
denotes |
alleles |
T5780 |
959-963 |
JJ |
denotes |
same |
T5781 |
964-971 |
NN |
denotes |
XPDG47R |
T5782 |
985-993 |
VBG |
denotes |
encoding |
T5783 |
971-972 |
HYPH |
denotes |
- |
T5784 |
973-975 |
CC |
denotes |
or |
T5785 |
976-984 |
NN |
denotes |
XPDR666W |
T5786 |
984-985 |
HYPH |
denotes |
- |
T5787 |
1002-1004 |
IN |
denotes |
in |
T5788 |
1005-1013 |
NN |
denotes |
addition |
T5789 |
1014-1016 |
IN |
denotes |
to |
T5790 |
1017-1020 |
DT |
denotes |
the |
T5791 |
1051-1054 |
NN |
denotes |
730 |
T5792 |
1021-1029 |
VBN |
denotes |
presumed |
T5793 |
1030-1034 |
JJ |
denotes |
null |
T5794 |
1035-1043 |
NN |
denotes |
XPDL461V |
T5795 |
1043-1044 |
SYM |
denotes |
+ |
T5796 |
1044-1050 |
NN |
denotes |
del716 |
T5797 |
1050-1051 |
HYPH |
denotes |
− |
T5798 |
1055-1059 |
DT |
denotes |
both |
T5799 |
1064-1076 |
RB |
denotes |
considerably |
T5800 |
1077-1083 |
JJR |
denotes |
milder |
T5801 |
1092-1100 |
NNS |
denotes |
symptoms |
T5802 |
1084-1091 |
NN |
denotes |
disease |
T5803 |
1101-1104 |
CC |
denotes |
and |
T5804 |
1105-1113 |
VBD |
denotes |
survived |
T5805 |
1114-1118 |
JJR |
denotes |
more |
T5806 |
1124-1127 |
CD |
denotes |
ten |
T5807 |
1119-1123 |
IN |
denotes |
than |
T5808 |
1128-1133 |
NNS |
denotes |
times |
T5809 |
1134-1140 |
RBR |
denotes |
longer |
T5810 |
1141-1142 |
-LRB- |
denotes |
( |
T5811 |
1142-1144 |
NNP |
denotes |
A. |
T5812 |
1145-1152 |
NNP |
denotes |
Lehmann |
T5813 |
1152-1154 |
, |
denotes |
, |
T5814 |
1154-1162 |
JJ |
denotes |
personal |
T5815 |
1163-1176 |
NN |
denotes |
communication |
T5816 |
1176-1177 |
-RRB- |
denotes |
) |
T5817 |
1178-1179 |
-LRB- |
denotes |
( |
T5818 |
1179-1185 |
NN |
denotes |
Figure |
T5819 |
1186-1187 |
CD |
denotes |
5 |
T5820 |
1187-1188 |
-RRB- |
denotes |
) |
T5821 |
1188-1189 |
. |
denotes |
. |
T5822 |
1189-1304 |
sentence |
denotes |
Compound heterozygosity is also associated with the recently reported combination XP and TTD (XPTTD) syndrome [8]. |
T5823 |
1190-1198 |
NN |
denotes |
Compound |
T5824 |
1199-1213 |
NN |
denotes |
heterozygosity |
T5825 |
1222-1232 |
VBN |
denotes |
associated |
T5826 |
1214-1216 |
VBZ |
denotes |
is |
T5827 |
1217-1221 |
RB |
denotes |
also |
T5828 |
1233-1237 |
IN |
denotes |
with |
T5829 |
1238-1241 |
DT |
denotes |
the |
T5830 |
1291-1299 |
NN |
denotes |
syndrome |
T5831 |
1242-1250 |
RB |
denotes |
recently |
T5832 |
1251-1259 |
VBN |
denotes |
reported |
T5833 |
1260-1271 |
NN |
denotes |
combination |
T5834 |
1272-1274 |
NN |
denotes |
XP |
T5835 |
1275-1278 |
CC |
denotes |
and |
T5836 |
1279-1282 |
NN |
denotes |
TTD |
T5837 |
1283-1284 |
-LRB- |
denotes |
( |
T5838 |
1284-1289 |
NN |
denotes |
XPTTD |
T5839 |
1289-1290 |
-RRB- |
denotes |
) |
T5840 |
1300-1301 |
-LRB- |
denotes |
[ |
T5841 |
1301-1302 |
CD |
denotes |
8 |
T5842 |
1302-1303 |
-RRB- |
denotes |
] |
T5843 |
1303-1304 |
. |
denotes |
. |
T5844 |
1304-1449 |
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 |
1305-1312 |
JJ |
denotes |
Similar |
T5846 |
1411-1414 |
VBD |
denotes |
had |
T5847 |
1313-1315 |
IN |
denotes |
to |
T5848 |
1316-1319 |
DT |
denotes |
the |
T5849 |
1348-1352 |
NNS |
denotes |
mice |
T5850 |
1320-1326 |
NN |
denotes |
XpdTTD |
T5851 |
1327-1332 |
NN |
denotes |
†XPCS |
T5852 |
1326-1327 |
HYPH |
denotes |
/ |
T5853 |
1333-1336 |
CC |
denotes |
and |
T5854 |
1337-1343 |
NN |
denotes |
XpdTTD |
T5855 |
1344-1347 |
NN |
denotes |
†XP |
T5856 |
1343-1344 |
HYPH |
denotes |
/ |
T5857 |
1353-1362 |
VBN |
denotes |
described |
T5858 |
1363-1367 |
RB |
denotes |
here |
T5859 |
1367-1369 |
, |
denotes |
, |
T5860 |
1369-1373 |
DT |
denotes |
both |
T5861 |
1374-1382 |
NNS |
denotes |
patients |
T5862 |
1383-1387 |
IN |
denotes |
with |
T5863 |
1388-1393 |
NN |
denotes |
XPTTD |
T5864 |
1394-1403 |
VBN |
denotes |
described |
T5865 |
1404-1406 |
RB |
denotes |
so |
T5866 |
1407-1410 |
RB |
denotes |
far |
T5867 |
1415-1427 |
JJ |
denotes |
intermediate |
T5868 |
1442-1448 |
NNS |
denotes |
values |
T5869 |
1428-1432 |
NN |
denotes |
hair |
T5870 |
1433-1441 |
NN |
denotes |
cysteine |
T5871 |
1448-1449 |
. |
denotes |
. |
T5872 |
1449-1591 |
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 |
1450-1461 |
RB |
denotes |
Furthermore |
T5874 |
1484-1491 |
VBD |
denotes |
carried |
T5875 |
1461-1463 |
, |
denotes |
, |
T5876 |
1463-1468 |
NN |
denotes |
XPTTD |
T5877 |
1477-1483 |
NN |
denotes |
XP38BR |
T5878 |
1469-1476 |
NN |
denotes |
patient |
T5879 |
1492-1493 |
DT |
denotes |
a |
T5880 |
1510-1518 |
NN |
denotes |
mutation |
T5881 |
1494-1495 |
`` |
denotes |
“ |
T5882 |
1495-1504 |
JJ |
denotes |
causative |
T5883 |
1504-1505 |
'' |
denotes |
” |
T5884 |
1506-1509 |
NN |
denotes |
TTD |
T5885 |
1519-1521 |
IN |
denotes |
in |
T5886 |
1522-1525 |
CD |
denotes |
one |
T5887 |
1526-1532 |
NN |
denotes |
allele |
T5888 |
1533-1536 |
CC |
denotes |
and |
T5889 |
1537-1538 |
DT |
denotes |
a |
T5890 |
1551-1559 |
NN |
denotes |
mutation |
T5891 |
1539-1544 |
JJ |
denotes |
novel |
T5892 |
1545-1550 |
NN |
denotes |
point |
T5893 |
1560-1568 |
VBG |
denotes |
encoding |
T5894 |
1569-1577 |
NN |
denotes |
XPDL485P |
T5895 |
1578-1580 |
IN |
denotes |
in |
T5896 |
1581-1584 |
DT |
denotes |
the |
T5897 |
1585-1590 |
JJ |
denotes |
other |
T5898 |
1590-1591 |
. |
denotes |
. |
T5899 |
1591-1879 |
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 |
1592-1600 |
IN |
denotes |
Although |
T5901 |
1630-1635 |
VBZ |
denotes |
fails |
T5902 |
1601-1604 |
DT |
denotes |
the |
T5903 |
1623-1629 |
NN |
denotes |
allele |
T5904 |
1605-1613 |
NN |
denotes |
XPDL485P |
T5905 |
1614-1622 |
VBG |
denotes |
encoding |
T5906 |
1613-1614 |
HYPH |
denotes |
- |
T5907 |
1769-1776 |
VBP |
denotes |
suggest |
T5908 |
1636-1638 |
TO |
denotes |
to |
T5909 |
1639-1649 |
VB |
denotes |
complement |
T5910 |
1650-1659 |
NN |
denotes |
viability |
T5911 |
1660-1662 |
IN |
denotes |
in |
T5912 |
1663-1666 |
DT |
denotes |
the |
T5913 |
1699-1705 |
NN |
denotes |
strain |
T5914 |
1667-1674 |
JJ |
denotes |
haploid |
T5915 |
1675-1677 |
FW |
denotes |
S. |
T5916 |
1678-1683 |
FW |
denotes |
pombe |
T5917 |
1684-1689 |
NN |
denotes |
rad15 |
T5918 |
1690-1698 |
NN |
denotes |
deletion |
T5919 |
1706-1709 |
CC |
denotes |
and |
T5920 |
1710-1712 |
VBZ |
denotes |
is |
T5921 |
1713-1717 |
RB |
denotes |
thus |
T5922 |
1718-1731 |
JJ |
denotes |
interpretable |
T5923 |
1732-1734 |
IN |
denotes |
as |
T5924 |
1735-1736 |
DT |
denotes |
a |
T5925 |
1742-1748 |
NN |
denotes |
allele |
T5926 |
1737-1741 |
JJ |
denotes |
null |
T5927 |
1749-1750 |
-LRB- |
denotes |
[ |
T5928 |
1750-1751 |
CD |
denotes |
8 |
T5929 |
1751-1752 |
-RRB- |
denotes |
] |
T5930 |
1752-1754 |
, |
denotes |
, |
T5931 |
1754-1756 |
PRP |
denotes |
we |
T5932 |
1757-1768 |
RB |
denotes |
nonetheless |
T5933 |
1777-1781 |
IN |
denotes |
that |
T5934 |
1827-1835 |
VBZ |
denotes |
involves |
T5935 |
1782-1785 |
DT |
denotes |
the |
T5936 |
1801-1810 |
NN |
denotes |
phenotype |
T5937 |
1786-1794 |
JJ |
denotes |
combined |
T5938 |
1795-1800 |
NN |
denotes |
XPTTD |
T5939 |
1811-1813 |
IN |
denotes |
in |
T5940 |
1814-1818 |
DT |
denotes |
this |
T5941 |
1819-1826 |
NN |
denotes |
patient |
T5942 |
1836-1846 |
JJ |
denotes |
phenotypic |
T5943 |
1847-1860 |
NNS |
denotes |
contributions |
T5944 |
1861-1865 |
IN |
denotes |
from |
T5945 |
1866-1870 |
DT |
denotes |
both |
T5946 |
1871-1878 |
NNS |
denotes |
alleles |
T5947 |
1878-1879 |
. |
denotes |
. |
T5948 |
1879-2012 |
sentence |
denotes |
Taken together, these data suggest a shift to a biallelic paradigm for compound heterozygous patients in XP complementation group D. |
T5949 |
1880-1885 |
VBN |
denotes |
Taken |
T5950 |
1907-1914 |
VBP |
denotes |
suggest |
T5951 |
1886-1894 |
RB |
denotes |
together |
T5952 |
1894-1896 |
, |
denotes |
, |
T5953 |
1896-1901 |
DT |
denotes |
these |
T5954 |
1902-1906 |
NNS |
denotes |
data |
T5955 |
1915-1916 |
DT |
denotes |
a |
T5956 |
1917-1922 |
NN |
denotes |
shift |
T5957 |
1923-1925 |
IN |
denotes |
to |
T5958 |
1926-1927 |
DT |
denotes |
a |
T5959 |
1938-1946 |
NN |
denotes |
paradigm |
T5960 |
1928-1937 |
JJ |
denotes |
biallelic |
T5961 |
1947-1950 |
IN |
denotes |
for |
T5962 |
1951-1959 |
NN |
denotes |
compound |
T5963 |
1973-1981 |
NNS |
denotes |
patients |
T5964 |
1960-1972 |
JJ |
denotes |
heterozygous |
T5965 |
1982-1984 |
IN |
denotes |
in |
T5966 |
1985-1987 |
NN |
denotes |
XP |
T5967 |
2010-2011 |
NN |
denotes |
D |
T5968 |
1988-2003 |
NN |
denotes |
complementation |
T5969 |
2004-2009 |
NN |
denotes |
group |
T5970 |
2011-2012 |
. |
denotes |
. |
T9280 |
2023-2031 |
NN |
denotes |
Genotype |
T9281 |
2032-2041 |
NN |
denotes |
Phenotype |
T9282 |
2031-2032 |
HYPH |
denotes |
– |
T9283 |
2042-2055 |
NNS |
denotes |
Relationships |
T9284 |
2056-2058 |
IN |
denotes |
in |
T9285 |
2059-2062 |
NN |
denotes |
XPD |
T9286 |
2063-2072 |
NNS |
denotes |
Disorders |
T9287 |
2072-2185 |
sentence |
denotes |
According to the current monoallelic hypothesis, phenotype is determined solely by the causative allele product. |
T9288 |
2073-2082 |
VBG |
denotes |
According |
T9289 |
2135-2145 |
VBN |
denotes |
determined |
T9290 |
2083-2085 |
IN |
denotes |
to |
T9291 |
2086-2089 |
DT |
denotes |
the |
T9292 |
2110-2120 |
NN |
denotes |
hypothesis |
T9293 |
2090-2097 |
JJ |
denotes |
current |
T9294 |
2098-2109 |
JJ |
denotes |
monoallelic |
T9295 |
2120-2122 |
, |
denotes |
, |
T9296 |
2122-2131 |
NN |
denotes |
phenotype |
T9297 |
2132-2134 |
VBZ |
denotes |
is |
T9298 |
2146-2152 |
RB |
denotes |
solely |
T9299 |
2153-2155 |
IN |
denotes |
by |
T9300 |
2156-2159 |
DT |
denotes |
the |
T9301 |
2177-2184 |
NN |
denotes |
product |
T9302 |
2160-2169 |
JJ |
denotes |
causative |
T9303 |
2170-2176 |
NN |
denotes |
allele |
T9304 |
2184-2185 |
. |
denotes |
. |
T9305 |
2185-2263 |
sentence |
denotes |
If a second, different allele is present, it is considered a functional null. |
T9306 |
2186-2188 |
IN |
denotes |
If |
T9307 |
2216-2218 |
VBZ |
denotes |
is |
T9308 |
2189-2190 |
DT |
denotes |
a |
T9309 |
2209-2215 |
NN |
denotes |
allele |
T9310 |
2191-2197 |
JJ |
denotes |
second |
T9311 |
2197-2199 |
, |
denotes |
, |
T9312 |
2199-2208 |
JJ |
denotes |
different |
T9313 |
2234-2244 |
VBN |
denotes |
considered |
T9314 |
2219-2226 |
JJ |
denotes |
present |
T9315 |
2226-2228 |
, |
denotes |
, |
T9316 |
2228-2230 |
PRP |
denotes |
it |
T9317 |
2231-2233 |
VBZ |
denotes |
is |
T9318 |
2245-2246 |
DT |
denotes |
a |
T9319 |
2258-2262 |
NN |
denotes |
null |
T9320 |
2247-2257 |
JJ |
denotes |
functional |
T9321 |
2262-2263 |
. |
denotes |
. |
T9322 |
2263-2363 |
sentence |
denotes |
There is a lack of any correlation between the site of the XPD mutation and the resulting disorder. |
T9323 |
2264-2269 |
EX |
denotes |
There |
T9324 |
2270-2272 |
VBZ |
denotes |
is |
T9325 |
2273-2274 |
DT |
denotes |
a |
T9326 |
2275-2279 |
NN |
denotes |
lack |
T9327 |
2280-2282 |
IN |
denotes |
of |
T9328 |
2283-2286 |
DT |
denotes |
any |
T9329 |
2287-2298 |
NN |
denotes |
correlation |
T9330 |
2299-2306 |
IN |
denotes |
between |
T9331 |
2307-2310 |
DT |
denotes |
the |
T9332 |
2311-2315 |
NN |
denotes |
site |
T9333 |
2316-2318 |
IN |
denotes |
of |
T9334 |
2319-2322 |
DT |
denotes |
the |
T9335 |
2327-2335 |
NN |
denotes |
mutation |
T9336 |
2323-2326 |
NN |
denotes |
XPD |
T9337 |
2336-2339 |
CC |
denotes |
and |
T9338 |
2340-2343 |
DT |
denotes |
the |
T9339 |
2354-2362 |
NN |
denotes |
disorder |
T9340 |
2344-2353 |
VBG |
denotes |
resulting |
T9341 |
2362-2363 |
. |
denotes |
. |
T9342 |
2363-2479 |
sentence |
denotes |
We propose a biallelic hypothesis for compound heterozygotes in which both alleles can contribute to the phenotype. |
T9343 |
2364-2366 |
PRP |
denotes |
We |
T9344 |
2367-2374 |
VBP |
denotes |
propose |
T9345 |
2375-2376 |
DT |
denotes |
a |
T9346 |
2387-2397 |
NN |
denotes |
hypothesis |
T9347 |
2377-2386 |
JJ |
denotes |
biallelic |
T9348 |
2398-2401 |
IN |
denotes |
for |
T9349 |
2402-2410 |
NN |
denotes |
compound |
T9350 |
2411-2424 |
NNS |
denotes |
heterozygotes |
T9351 |
2425-2427 |
IN |
denotes |
in |
T9352 |
2451-2461 |
VB |
denotes |
contribute |
T9353 |
2428-2433 |
WDT |
denotes |
which |
T9354 |
2434-2438 |
DT |
denotes |
both |
T9355 |
2439-2446 |
NNS |
denotes |
alleles |
T9356 |
2447-2450 |
MD |
denotes |
can |
T9357 |
2462-2464 |
IN |
denotes |
to |
T9358 |
2465-2468 |
DT |
denotes |
the |
T9359 |
2469-2478 |
NN |
denotes |
phenotype |
T9360 |
2478-2479 |
. |
denotes |
. |
T9361 |
2479-2716 |
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 |
2480-2488 |
NNS |
denotes |
Examples |
T9363 |
2610-2618 |
VBN |
denotes |
provided |
T9364 |
2489-2491 |
IN |
denotes |
of |
T9365 |
2492-2500 |
NN |
denotes |
compound |
T9366 |
2514-2522 |
NNS |
denotes |
patients |
T9367 |
2501-2513 |
JJ |
denotes |
heterozygous |
T9368 |
2523-2525 |
IN |
denotes |
in |
T9369 |
2563-2565 |
VBZ |
denotes |
is |
T9370 |
2526-2531 |
WDT |
denotes |
which |
T9371 |
2532-2533 |
DT |
denotes |
a |
T9372 |
2556-2562 |
NN |
denotes |
allele |
T9373 |
2534-2540 |
JJ |
denotes |
second |
T9374 |
2540-2542 |
, |
denotes |
, |
T9375 |
2542-2550 |
JJ |
denotes |
presumed |
T9376 |
2551-2555 |
JJ |
denotes |
null |
T9377 |
2566-2572 |
JJ |
denotes |
likely |
T9378 |
2573-2575 |
TO |
denotes |
to |
T9379 |
2576-2586 |
VB |
denotes |
contribute |
T9380 |
2587-2589 |
IN |
denotes |
to |
T9381 |
2590-2597 |
NN |
denotes |
disease |
T9382 |
2598-2605 |
NN |
denotes |
outcome |
T9383 |
2606-2609 |
VBP |
denotes |
are |
T9384 |
2619-2624 |
RB |
denotes |
above |
T9385 |
2625-2627 |
IN |
denotes |
in |
T9386 |
2628-2638 |
NN |
denotes |
comparison |
T9387 |
2639-2641 |
IN |
denotes |
to |
T9388 |
2642-2655 |
VBG |
denotes |
corresponding |
T9389 |
2676-2684 |
NNS |
denotes |
patients |
T9390 |
2656-2660 |
AFX |
denotes |
homo |
T9391 |
2665-2675 |
JJ |
denotes |
hemizygous |
T9392 |
2660-2661 |
HYPH |
denotes |
- |
T9393 |
2662-2664 |
CC |
denotes |
or |
T9394 |
2685-2689 |
IN |
denotes |
with |
T9395 |
2690-2693 |
DT |
denotes |
the |
T9396 |
2709-2715 |
NN |
denotes |
allele |
T9397 |
2694-2698 |
JJ |
denotes |
same |
T9398 |
2699-2708 |
JJ |
denotes |
causative |
T9399 |
2715-2716 |
. |
denotes |
. |
T9400 |
2716-2787 |
sentence |
denotes |
Numbers in the schematic of the protein indicate the helicase domains. |
T9401 |
2717-2724 |
NNS |
denotes |
Numbers |
T9402 |
2757-2765 |
VBP |
denotes |
indicate |
T9403 |
2725-2727 |
IN |
denotes |
in |
T9404 |
2728-2731 |
DT |
denotes |
the |
T9405 |
2732-2741 |
NN |
denotes |
schematic |
T9406 |
2742-2744 |
IN |
denotes |
of |
T9407 |
2745-2748 |
DT |
denotes |
the |
T9408 |
2749-2756 |
NN |
denotes |
protein |
T9409 |
2766-2769 |
DT |
denotes |
the |
T9410 |
2779-2786 |
NNS |
denotes |
domains |
T9411 |
2770-2778 |
NN |
denotes |
helicase |
T9412 |
2786-2787 |
. |
denotes |
. |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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. |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
R6329 |
T9280 |
T9281 |
compound |
Genotype,Phenotype |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |