Id |
Subject |
Object |
Predicate |
Lexical cue |
T1032 |
0-4 |
JJ |
denotes |
Many |
T1034 |
5-8 |
NN |
denotes |
XPD |
T1033 |
9-18 |
NNS |
denotes |
mutations |
T1036 |
19-22 |
VBP |
denotes |
are |
T1035 |
23-33 |
VBN |
denotes |
associated |
T1037 |
34-38 |
IN |
denotes |
with |
T1038 |
39-41 |
DT |
denotes |
an |
T1040 |
42-51 |
JJ |
denotes |
exclusive |
T1041 |
52-59 |
NN |
denotes |
disease |
T1039 |
60-69 |
NN |
denotes |
phenotype |
T1042 |
70-71 |
-LRB- |
denotes |
( |
T1044 |
71-75 |
FW |
denotes |
e.g. |
T1045 |
75-77 |
, |
denotes |
, |
T1043 |
77-85 |
NN |
denotes |
XPDR722W |
T1046 |
86-90 |
IN |
denotes |
with |
T1047 |
91-94 |
NN |
denotes |
TTD |
T1048 |
95-98 |
CC |
denotes |
and |
T1049 |
99-107 |
NN |
denotes |
XPDR683W |
T1050 |
108-112 |
IN |
denotes |
with |
T1051 |
113-115 |
NN |
denotes |
XP |
T1052 |
115-116 |
-RRB- |
denotes |
) |
T1053 |
117-120 |
CC |
denotes |
and |
T1054 |
121-124 |
VBP |
denotes |
are |
T1056 |
125-129 |
RB |
denotes |
thus |
T1055 |
130-136 |
VBN |
denotes |
viewed |
T1057 |
137-139 |
IN |
denotes |
as |
T1058 |
140-149 |
JJ |
denotes |
causative |
T1059 |
150-152 |
IN |
denotes |
of |
T1060 |
153-156 |
DT |
denotes |
the |
T1062 |
157-170 |
VBG |
denotes |
corresponding |
T1061 |
171-180 |
NNS |
denotes |
syndromes |
T1063 |
180-181 |
. |
denotes |
. |
T1064 |
181-280 |
sentence |
denotes |
Alleles not associated exclusively with one disorder are considered “likely null” alleles [19,20]. |
T1065 |
182-189 |
NNS |
denotes |
Alleles |
T1067 |
190-193 |
RB |
denotes |
not |
T1068 |
194-204 |
VBN |
denotes |
associated |
T1069 |
205-216 |
RB |
denotes |
exclusively |
T1070 |
217-221 |
IN |
denotes |
with |
T1071 |
222-225 |
CD |
denotes |
one |
T1072 |
226-234 |
NN |
denotes |
disorder |
T1073 |
235-238 |
VBP |
denotes |
are |
T1066 |
239-249 |
VBN |
denotes |
considered |
T1074 |
250-251 |
`` |
denotes |
“ |
T1076 |
251-257 |
RB |
denotes |
likely |
T1077 |
258-262 |
JJ |
denotes |
null |
T1078 |
262-263 |
'' |
denotes |
” |
T1075 |
264-271 |
NNS |
denotes |
alleles |
T1079 |
272-273 |
-LRB- |
denotes |
[ |
T1081 |
273-275 |
CD |
denotes |
19 |
T1082 |
275-276 |
, |
denotes |
, |
T1080 |
276-278 |
CD |
denotes |
20 |
T1083 |
278-279 |
-RRB- |
denotes |
] |
T1084 |
279-280 |
. |
denotes |
. |
T1085 |
280-500 |
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 |
281-285 |
DT |
denotes |
Some |
T1088 |
286-288 |
IN |
denotes |
of |
T1089 |
289-294 |
DT |
denotes |
these |
T1090 |
295-302 |
NNS |
denotes |
alleles |
T1087 |
303-307 |
VBP |
denotes |
fail |
T1091 |
308-310 |
TO |
denotes |
to |
T1092 |
311-318 |
VB |
denotes |
support |
T1093 |
319-328 |
NN |
denotes |
viability |
T1094 |
329-331 |
IN |
denotes |
in |
T1095 |
332-333 |
DT |
denotes |
a |
T1097 |
334-341 |
JJ |
denotes |
haploid |
T1098 |
342-361 |
NNP |
denotes |
Schizosaccharomyces |
T1099 |
362-367 |
NNP |
denotes |
pombe |
T1100 |
368-373 |
NN |
denotes |
yeast |
T1096 |
374-380 |
NN |
denotes |
strain |
T1101 |
381-385 |
IN |
denotes |
with |
T1102 |
386-387 |
DT |
denotes |
a |
T1104 |
388-392 |
JJ |
denotes |
null |
T1103 |
393-401 |
NN |
denotes |
mutation |
T1105 |
402-404 |
IN |
denotes |
in |
T1106 |
405-408 |
DT |
denotes |
the |
T1108 |
409-412 |
NN |
denotes |
XPD |
T1109 |
413-422 |
NN |
denotes |
homologue |
T1107 |
423-428 |
NN |
denotes |
rad15 |
T1110 |
429-432 |
CC |
denotes |
and |
T1111 |
433-436 |
VBP |
denotes |
are |
T1113 |
437-441 |
RB |
denotes |
thus |
T1112 |
442-452 |
VBN |
denotes |
considered |
T1114 |
453-459 |
JJ |
denotes |
devoid |
T1115 |
460-462 |
IN |
denotes |
of |
T1116 |
463-474 |
JJ |
denotes |
significant |
T1118 |
475-485 |
JJ |
denotes |
biological |
T1117 |
486-494 |
NN |
denotes |
activity |
T1119 |
495-496 |
-LRB- |
denotes |
[ |
T1120 |
496-498 |
CD |
denotes |
19 |
T1121 |
498-499 |
-RRB- |
denotes |
] |
T1122 |
499-500 |
. |
denotes |
. |
T1123 |
500-638 |
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 |
501-505 |
DT |
denotes |
This |
T1125 |
506-520 |
NN |
denotes |
classification |
T1127 |
521-523 |
IN |
denotes |
of |
T1128 |
524-531 |
NNS |
denotes |
alleles |
T1129 |
532-534 |
IN |
denotes |
as |
T1130 |
535-541 |
CC |
denotes |
either |
T1131 |
542-551 |
JJ |
denotes |
causative |
T1132 |
552-554 |
CC |
denotes |
or |
T1133 |
555-559 |
JJ |
denotes |
null |
T1134 |
560-569 |
RB |
denotes |
currently |
T1126 |
570-577 |
VBZ |
denotes |
defines |
T1135 |
578-582 |
WP |
denotes |
what |
T1137 |
583-585 |
PRP |
denotes |
we |
T1136 |
586-591 |
VBP |
denotes |
refer |
T1138 |
592-594 |
IN |
denotes |
to |
T1139 |
595-597 |
IN |
denotes |
as |
T1140 |
598-599 |
DT |
denotes |
a |
T1142 |
600-601 |
`` |
denotes |
“ |
T1143 |
601-612 |
JJ |
denotes |
monoallelic |
T1144 |
612-613 |
'' |
denotes |
” |
T1141 |
614-622 |
NN |
denotes |
paradigm |
T1145 |
623-625 |
IN |
denotes |
of |
T1146 |
626-629 |
NN |
denotes |
XPD |
T1147 |
630-637 |
NN |
denotes |
disease |
T1148 |
637-638 |
. |
denotes |
. |
T1149 |
638-919 |
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 |
639-646 |
RB |
denotes |
However |
T1152 |
646-648 |
, |
denotes |
, |
T1153 |
648-651 |
DT |
denotes |
the |
T1154 |
652-666 |
NN |
denotes |
identification |
T1155 |
667-669 |
IN |
denotes |
in |
T1156 |
670-676 |
JJ |
denotes |
recent |
T1157 |
677-682 |
NNS |
denotes |
years |
T1158 |
683-685 |
IN |
denotes |
of |
T1159 |
686-688 |
NN |
denotes |
XP |
T1161 |
689-704 |
NN |
denotes |
complementation |
T1162 |
705-710 |
NN |
denotes |
group |
T1163 |
711-712 |
NN |
denotes |
D |
T1160 |
713-721 |
NNS |
denotes |
patients |
T1164 |
722-726 |
IN |
denotes |
with |
T1165 |
727-735 |
JJ |
denotes |
atypical |
T1167 |
736-743 |
NN |
denotes |
disease |
T1166 |
744-756 |
NN |
denotes |
presentation |
T1168 |
756-758 |
, |
denotes |
, |
T1169 |
758-767 |
VBG |
denotes |
including |
T1170 |
768-776 |
NNS |
denotes |
symptoms |
T1171 |
777-779 |
IN |
denotes |
of |
T1172 |
780-784 |
CC |
denotes |
both |
T1173 |
785-787 |
NN |
denotes |
XP |
T1174 |
788-791 |
CC |
denotes |
and |
T1175 |
792-795 |
NN |
denotes |
TTD |
T1176 |
796-797 |
-LRB- |
denotes |
[ |
T1177 |
797-798 |
CD |
denotes |
8 |
T1178 |
798-799 |
-RRB- |
denotes |
] |
T1179 |
799-801 |
, |
denotes |
, |
T1151 |
801-806 |
VBZ |
denotes |
casts |
T1180 |
807-812 |
NN |
denotes |
doubt |
T1181 |
813-815 |
IN |
denotes |
on |
T1182 |
816-819 |
DT |
denotes |
the |
T1183 |
820-827 |
NN |
denotes |
ability |
T1184 |
828-830 |
IN |
denotes |
of |
T1185 |
831-835 |
JJ |
denotes |
such |
T1187 |
836-837 |
DT |
denotes |
a |
T1188 |
838-849 |
JJ |
denotes |
monoallelic |
T1186 |
850-858 |
NN |
denotes |
paradigm |
T1189 |
859-861 |
TO |
denotes |
to |
T1190 |
862-869 |
VB |
denotes |
explain |
T1191 |
870-878 |
JJ |
denotes |
clinical |
T1192 |
879-892 |
NN |
denotes |
heterogeneity |
T1193 |
893-895 |
IN |
denotes |
in |
T1194 |
896-904 |
NN |
denotes |
compound |
T1195 |
905-918 |
NNS |
denotes |
heterozygotes |
T1196 |
918-919 |
. |
denotes |
. |
R687 |
T1032 |
T1033 |
amod |
Many,mutations |
R688 |
T1033 |
T1035 |
nsubjpass |
mutations,associated |
R689 |
T1034 |
T1033 |
compound |
XPD,mutations |
R690 |
T1036 |
T1035 |
auxpass |
are,associated |
R691 |
T1037 |
T1035 |
prep |
with,associated |
R692 |
T1038 |
T1039 |
det |
an,phenotype |
R693 |
T1039 |
T1037 |
pobj |
phenotype,with |
R694 |
T1040 |
T1039 |
amod |
exclusive,phenotype |
R695 |
T1041 |
T1039 |
compound |
disease,phenotype |
R696 |
T1042 |
T1043 |
punct |
(,XPDR722W |
R697 |
T1043 |
T1039 |
parataxis |
XPDR722W,phenotype |
R698 |
T1044 |
T1043 |
advmod |
e.g.,XPDR722W |
R699 |
T1045 |
T1043 |
punct |
", ",XPDR722W |
R700 |
T1046 |
T1043 |
prep |
with,XPDR722W |
R701 |
T1047 |
T1046 |
pobj |
TTD,with |
R702 |
T1048 |
T1043 |
cc |
and,XPDR722W |
R703 |
T1049 |
T1043 |
conj |
XPDR683W,XPDR722W |
R704 |
T1050 |
T1049 |
prep |
with,XPDR683W |
R705 |
T1051 |
T1050 |
pobj |
XP,with |
R706 |
T1052 |
T1043 |
punct |
),XPDR722W |
R707 |
T1053 |
T1035 |
cc |
and,associated |
R708 |
T1054 |
T1055 |
auxpass |
are,viewed |
R709 |
T1055 |
T1035 |
conj |
viewed,associated |
R710 |
T1056 |
T1055 |
advmod |
thus,viewed |
R711 |
T1057 |
T1055 |
prep |
as,viewed |
R712 |
T1058 |
T1057 |
pobj |
causative,as |
R713 |
T1059 |
T1058 |
prep |
of,causative |
R714 |
T1060 |
T1061 |
det |
the,syndromes |
R715 |
T1061 |
T1059 |
pobj |
syndromes,of |
R716 |
T1062 |
T1061 |
amod |
corresponding,syndromes |
R717 |
T1063 |
T1035 |
punct |
.,associated |
R718 |
T1065 |
T1066 |
nsubjpass |
Alleles,considered |
R719 |
T1067 |
T1068 |
neg |
not,associated |
R720 |
T1068 |
T1065 |
acl |
associated,Alleles |
R721 |
T1069 |
T1068 |
advmod |
exclusively,associated |
R722 |
T1070 |
T1068 |
prep |
with,associated |
R723 |
T1071 |
T1072 |
nummod |
one,disorder |
R724 |
T1072 |
T1070 |
pobj |
disorder,with |
R725 |
T1073 |
T1066 |
auxpass |
are,considered |
R726 |
T1074 |
T1075 |
punct |
“,alleles |
R727 |
T1075 |
T1066 |
oprd |
alleles,considered |
R728 |
T1076 |
T1077 |
advmod |
likely,null |
R729 |
T1077 |
T1075 |
amod |
null,alleles |
R730 |
T1078 |
T1075 |
punct |
”,alleles |
R731 |
T1079 |
T1080 |
punct |
[,20 |
R732 |
T1080 |
T1066 |
parataxis |
20,considered |
R733 |
T1081 |
T1080 |
nummod |
19,20 |
R734 |
T1082 |
T1080 |
punct |
",",20 |
R735 |
T1083 |
T1080 |
punct |
],20 |
R736 |
T1084 |
T1066 |
punct |
.,considered |
R737 |
T1086 |
T1087 |
nsubj |
Some,fail |
R738 |
T1088 |
T1086 |
prep |
of,Some |
R739 |
T1089 |
T1090 |
det |
these,alleles |
R740 |
T1090 |
T1088 |
pobj |
alleles,of |
R741 |
T1091 |
T1092 |
aux |
to,support |
R742 |
T1092 |
T1087 |
xcomp |
support,fail |
R743 |
T1093 |
T1092 |
dobj |
viability,support |
R744 |
T1094 |
T1092 |
prep |
in,support |
R745 |
T1095 |
T1096 |
det |
a,strain |
R746 |
T1096 |
T1094 |
pobj |
strain,in |
R747 |
T1097 |
T1096 |
amod |
haploid,strain |
R748 |
T1098 |
T1096 |
compound |
Schizosaccharomyces,strain |
R749 |
T1099 |
T1096 |
compound |
pombe,strain |
R750 |
T1100 |
T1096 |
compound |
yeast,strain |
R751 |
T1101 |
T1096 |
prep |
with,strain |
R752 |
T1102 |
T1103 |
det |
a,mutation |
R753 |
T1103 |
T1101 |
pobj |
mutation,with |
R754 |
T1104 |
T1103 |
amod |
null,mutation |
R755 |
T1105 |
T1103 |
prep |
in,mutation |
R756 |
T1106 |
T1107 |
det |
the,rad15 |
R757 |
T1107 |
T1105 |
pobj |
rad15,in |
R758 |
T1108 |
T1107 |
compound |
XPD,rad15 |
R759 |
T1109 |
T1107 |
compound |
homologue,rad15 |
R760 |
T1110 |
T1087 |
cc |
and,fail |
R761 |
T1111 |
T1112 |
auxpass |
are,considered |
R762 |
T1112 |
T1087 |
conj |
considered,fail |
R763 |
T1113 |
T1112 |
advmod |
thus,considered |
R764 |
T1114 |
T1112 |
oprd |
devoid,considered |
R765 |
T1115 |
T1114 |
prep |
of,devoid |
R766 |
T1116 |
T1117 |
amod |
significant,activity |
R767 |
T1117 |
T1115 |
pobj |
activity,of |
R768 |
T1118 |
T1117 |
amod |
biological,activity |
R769 |
T1119 |
T1120 |
punct |
[,19 |
R770 |
T1120 |
T1112 |
parataxis |
19,considered |
R771 |
T1121 |
T1120 |
punct |
],19 |
R772 |
T1122 |
T1087 |
punct |
.,fail |
R773 |
T1124 |
T1125 |
det |
This,classification |
R774 |
T1125 |
T1126 |
nsubj |
classification,defines |
R775 |
T1127 |
T1125 |
prep |
of,classification |
R776 |
T1128 |
T1127 |
pobj |
alleles,of |
R777 |
T1129 |
T1125 |
prep |
as,classification |
R778 |
T1130 |
T1131 |
preconj |
either,causative |
R779 |
T1131 |
T1129 |
amod |
causative,as |
R780 |
T1132 |
T1131 |
cc |
or,causative |
R781 |
T1133 |
T1131 |
conj |
null,causative |
R782 |
T1134 |
T1126 |
advmod |
currently,defines |
R783 |
T1135 |
T1136 |
dep |
what,refer |
R784 |
T1136 |
T1126 |
ccomp |
refer,defines |
R785 |
T1137 |
T1136 |
nsubj |
we,refer |
R786 |
T1138 |
T1136 |
prep |
to,refer |
R787 |
T1139 |
T1136 |
prep |
as,refer |
R788 |
T1140 |
T1141 |
det |
a,paradigm |
R789 |
T1141 |
T1139 |
pobj |
paradigm,as |
R790 |
T1142 |
T1141 |
punct |
“,paradigm |
R791 |
T1143 |
T1141 |
amod |
monoallelic,paradigm |
R792 |
T1144 |
T1141 |
punct |
”,paradigm |
R793 |
T1145 |
T1141 |
prep |
of,paradigm |
R794 |
T1146 |
T1147 |
compound |
XPD,disease |
R795 |
T1147 |
T1145 |
pobj |
disease,of |
R796 |
T1148 |
T1126 |
punct |
.,defines |
R797 |
T1150 |
T1151 |
advmod |
However,casts |
R798 |
T1152 |
T1151 |
punct |
", ",casts |
R799 |
T1153 |
T1154 |
det |
the,identification |
R800 |
T1154 |
T1151 |
nsubj |
identification,casts |
R801 |
T1155 |
T1154 |
prep |
in,identification |
R802 |
T1156 |
T1157 |
amod |
recent,years |
R803 |
T1157 |
T1155 |
pobj |
years,in |
R804 |
T1158 |
T1157 |
prep |
of,years |
R805 |
T1159 |
T1160 |
compound |
XP,patients |
R806 |
T1160 |
T1158 |
pobj |
patients,of |
R807 |
T1161 |
T1160 |
compound |
complementation,patients |
R808 |
T1162 |
T1163 |
compound |
group,D |
R809 |
T1163 |
T1160 |
compound |
D,patients |
R810 |
T1164 |
T1160 |
prep |
with,patients |
R811 |
T1165 |
T1166 |
amod |
atypical,presentation |
R812 |
T1166 |
T1164 |
pobj |
presentation,with |
R813 |
T1167 |
T1166 |
compound |
disease,presentation |
R814 |
T1168 |
T1166 |
punct |
", ",presentation |
R815 |
T1169 |
T1166 |
prep |
including,presentation |
R816 |
T1170 |
T1169 |
pobj |
symptoms,including |
R817 |
T1171 |
T1170 |
prep |
of,symptoms |
R818 |
T1172 |
T1173 |
preconj |
both,XP |
R819 |
T1173 |
T1171 |
pobj |
XP,of |
R820 |
T1174 |
T1173 |
cc |
and,XP |
R821 |
T1175 |
T1173 |
conj |
TTD,XP |
R822 |
T1176 |
T1177 |
punct |
[,8 |
R823 |
T1177 |
T1154 |
parataxis |
8,identification |
R824 |
T1178 |
T1177 |
punct |
],8 |
R825 |
T1179 |
T1151 |
punct |
", ",casts |
R826 |
T1180 |
T1151 |
dobj |
doubt,casts |
R827 |
T1181 |
T1151 |
prep |
on,casts |
R828 |
T1182 |
T1183 |
det |
the,ability |
R829 |
T1183 |
T1181 |
pobj |
ability,on |
R830 |
T1184 |
T1183 |
prep |
of,ability |
R831 |
T1185 |
T1186 |
amod |
such,paradigm |
R832 |
T1186 |
T1184 |
pobj |
paradigm,of |
R833 |
T1187 |
T1186 |
det |
a,paradigm |
R834 |
T1188 |
T1186 |
amod |
monoallelic,paradigm |
R835 |
T1189 |
T1190 |
aux |
to,explain |
R836 |
T1190 |
T1183 |
acl |
explain,ability |
R837 |
T1191 |
T1192 |
amod |
clinical,heterogeneity |
R838 |
T1192 |
T1190 |
dobj |
heterogeneity,explain |
R839 |
T1193 |
T1190 |
prep |
in,explain |
R840 |
T1194 |
T1195 |
compound |
compound,heterozygotes |
R841 |
T1195 |
T1193 |
pobj |
heterozygotes,in |
R842 |
T1196 |
T1151 |
punct |
.,casts |