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PMC:1584416 / 0-1610 JSONTXT 4 Projects

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Id Subject Object Predicate Lexical cue
T2572 0-6 NN denotes Rescue
T84 0-6 NN denotes Rescue
T85 0-74 sentence denotes Rescue of Progeria in Trichothiodystrophy by Homozygous Lethal Xpd Alleles
T86 7-9 IN denotes of
T2573 7-9 IN denotes of
T87 10-18 NN denotes Progeria
T88 19-21 IN denotes in
T89 22-41 NN denotes Trichothiodystrophy
T90 42-44 IN denotes by
T91 45-55 JJ denotes Homozygous
T93 56-62 JJ denotes Lethal
T94 63-66 NN denotes Xpd
T92 67-74 NNS denotes Alleles
T95 124-332 sentence denotes Although compound heterozygosity, or the presence of two different mutant alleles of the same gene, is common in human recessive disease, its potential to impact disease outcome has not been well documented.
T96 125-133 IN denotes Although
T98 134-142 NN denotes compound
T99 143-157 NN denotes heterozygosity
T100 157-159 , denotes ,
T101 159-161 CC denotes or
T102 162-165 DT denotes the
T103 166-174 NN denotes presence
T104 175-177 IN denotes of
T105 178-181 CD denotes two
T107 182-191 JJ denotes different
T108 192-198 JJ denotes mutant
T106 199-206 NNS denotes alleles
T109 207-209 IN denotes of
T110 210-213 DT denotes the
T112 214-218 JJ denotes same
T111 219-223 NN denotes gene
T113 223-225 , denotes ,
T97 225-227 VBZ denotes is
T115 228-234 JJ denotes common
T116 235-237 IN denotes in
T117 238-243 JJ denotes human
T119 244-253 JJ denotes recessive
T118 254-261 NN denotes disease
T120 261-263 , denotes ,
T121 263-266 PRP$ denotes its
T122 267-276 NN denotes potential
T123 277-279 TO denotes to
T124 280-286 VB denotes impact
T125 287-294 NN denotes disease
T126 295-302 NN denotes outcome
T127 303-306 VBZ denotes has
T128 307-310 RB denotes not
T129 311-315 VBN denotes been
T130 316-320 RB denotes well
T114 321-331 VBN denotes documented
T131 331-332 . denotes .
T132 332-487 sentence denotes This is most likely because of the inherent difficulty in distinguishing specific biallelic effects from differences in environment or genetic background.
T133 333-337 DT denotes This
T134 338-340 VBZ denotes is
T135 341-345 RBS denotes most
T136 346-352 RB denotes likely
T137 353-360 IN denotes because
T138 361-363 IN denotes of
T139 364-367 DT denotes the
T141 368-376 JJ denotes inherent
T140 377-387 NN denotes difficulty
T142 388-390 IN denotes in
T143 391-405 VBG denotes distinguishing
T144 406-414 JJ denotes specific
T146 415-424 JJ denotes biallelic
T145 425-432 NNS denotes effects
T147 433-437 IN denotes from
T148 438-449 NNS denotes differences
T149 450-452 IN denotes in
T150 453-464 NN denotes environment
T151 465-467 CC denotes or
T152 468-475 JJ denotes genetic
T153 476-486 NN denotes background
T154 486-487 . denotes .
T155 487-666 sentence denotes We addressed the potential of different recessive alleles to contribute to the enigmatic pleiotropy associated with XPD recessive disorders in compound heterozygous mouse models.
T156 488-490 PRP denotes We
T157 491-500 VBD denotes addressed
T158 501-504 DT denotes the
T159 505-514 NN denotes potential
T160 515-517 IN denotes of
T161 518-527 JJ denotes different
T163 528-537 JJ denotes recessive
T162 538-545 NNS denotes alleles
T164 546-548 TO denotes to
T165 549-559 VB denotes contribute
T166 560-562 IN denotes to
T167 563-566 DT denotes the
T169 567-576 JJ denotes enigmatic
T168 577-587 NN denotes pleiotropy
T170 588-598 VBN denotes associated
T171 599-603 IN denotes with
T172 604-607 NN denotes XPD
T174 608-617 JJ denotes recessive
T173 618-627 NNS denotes disorders
T175 628-630 IN denotes in
T176 631-639 NN denotes compound
T178 640-652 JJ denotes heterozygous
T179 653-658 NN denotes mouse
T177 659-665 NNS denotes models
T180 665-666 . denotes .
T181 666-893 sentence denotes Alterations in this essential helicase, with functions in both DNA repair and basal transcription, result in diverse pathologies ranging from elevated UV sensitivity and cancer predisposition to accelerated segmental progeria.
T182 667-678 NNS denotes Alterations
T184 679-681 IN denotes in
T185 682-686 DT denotes this
T187 687-696 JJ denotes essential
T186 697-705 NN denotes helicase
T188 705-707 , denotes ,
T189 707-711 IN denotes with
T190 712-721 NNS denotes functions
T191 722-724 IN denotes in
T192 725-729 CC denotes both
T194 730-733 NN denotes DNA
T193 734-740 NN denotes repair
T195 741-744 CC denotes and
T196 745-750 JJ denotes basal
T197 751-764 NN denotes transcription
T198 764-766 , denotes ,
T183 766-772 VBP denotes result
T199 773-775 IN denotes in
T200 776-783 JJ denotes diverse
T201 784-795 NNS denotes pathologies
T202 796-803 VBG denotes ranging
T203 804-808 IN denotes from
T204 809-817 VBN denotes elevated
T206 818-820 NN denotes UV
T205 821-832 NN denotes sensitivity
T207 833-836 CC denotes and
T208 837-843 NN denotes cancer
T209 844-858 NN denotes predisposition
T210 859-861 IN denotes to
T211 862-873 VBN denotes accelerated
T213 874-883 JJ denotes segmental
T212 884-892 NN denotes progeria
T214 892-893 . denotes .
T215 893-1436 sentence denotes We report a variety of biallelic effects on organismal phenotype attributable to combinations of recessive Xpd alleles, including the following: (i) the ability of homozygous lethal Xpd alleles to ameliorate a variety of disease symptoms when their essential basal transcription function is supplied by a different disease-causing allele, (ii) differential developmental and tissue-specific functions of distinct Xpd allele products, and (iii) interallelic complementation, a phenomenon rarely reported at clinically relevant loci in mammals.
T216 894-896 PRP denotes We
T217 897-903 VBP denotes report
T218 904-905 DT denotes a
T219 906-913 NN denotes variety
T220 914-916 IN denotes of
T221 917-926 JJ denotes biallelic
T222 927-934 NNS denotes effects
T223 935-937 IN denotes on
T224 938-948 JJ denotes organismal
T225 949-958 NN denotes phenotype
T226 959-971 JJ denotes attributable
T227 972-974 IN denotes to
T228 975-987 NNS denotes combinations
T229 988-990 IN denotes of
T230 991-1000 JJ denotes recessive
T232 1001-1004 NN denotes Xpd
T231 1005-1012 NNS denotes alleles
T233 1012-1014 , denotes ,
T234 1014-1023 VBG denotes including
T235 1024-1027 DT denotes the
T236 1028-1037 NN denotes following
T237 1037-1039 : denotes :
T238 1039-1040 -LRB- denotes (
T239 1040-1041 LS denotes i
T241 1041-1042 -RRB- denotes )
T242 1043-1046 DT denotes the
T240 1047-1054 NN denotes ability
T243 1055-1057 IN denotes of
T244 1058-1068 JJ denotes homozygous
T246 1069-1075 JJ denotes lethal
T247 1076-1079 NN denotes Xpd
T245 1080-1087 NNS denotes alleles
T248 1088-1090 TO denotes to
T249 1091-1101 VB denotes ameliorate
T250 1102-1103 DT denotes a
T251 1104-1111 NN denotes variety
T252 1112-1114 IN denotes of
T253 1115-1122 NN denotes disease
T254 1123-1131 NNS denotes symptoms
T255 1132-1136 WRB denotes when
T257 1137-1142 PRP$ denotes their
T259 1143-1152 JJ denotes essential
T260 1153-1158 JJ denotes basal
T261 1159-1172 NN denotes transcription
T258 1173-1181 NN denotes function
T262 1182-1184 VBZ denotes is
T256 1185-1193 VBN denotes supplied
T263 1194-1196 IN denotes by
T264 1197-1198 DT denotes a
T266 1199-1208 JJ denotes different
T267 1209-1216 NN denotes disease
T269 1216-1217 HYPH denotes -
T268 1217-1224 VBG denotes causing
T265 1225-1231 NN denotes allele
T270 1231-1233 , denotes ,
T271 1233-1234 -LRB- denotes (
T272 1234-1236 LS denotes ii
T274 1236-1237 -RRB- denotes )
T275 1238-1250 JJ denotes differential
T276 1251-1264 JJ denotes developmental
T277 1265-1268 CC denotes and
T278 1269-1275 NN denotes tissue
T280 1275-1276 HYPH denotes -
T279 1276-1284 JJ denotes specific
T273 1285-1294 NNS denotes functions
T281 1295-1297 IN denotes of
T282 1298-1306 JJ denotes distinct
T284 1307-1310 NN denotes Xpd
T285 1311-1317 NN denotes allele
T283 1318-1326 NNS denotes products
T286 1326-1328 , denotes ,
T287 1328-1331 CC denotes and
T288 1332-1333 -LRB- denotes (
T289 1333-1336 LS denotes iii
T291 1336-1337 -RRB- denotes )
T292 1338-1350 JJ denotes interallelic
T290 1351-1366 NN denotes complementation
T293 1366-1368 , denotes ,
T294 1368-1369 DT denotes a
T295 1370-1380 NN denotes phenomenon
T296 1381-1387 RB denotes rarely
T297 1388-1396 VBN denotes reported
T298 1397-1399 IN denotes at
T299 1400-1410 RB denotes clinically
T300 1411-1419 JJ denotes relevant
T301 1420-1424 NNS denotes loci
T302 1425-1427 IN denotes in
T303 1428-1435 NNS denotes mammals
T304 1435-1436 . denotes .
T306 1437-1440 PRP$ denotes Our
T307 1441-1445 NNS denotes data
T308 1446-1453 VBP denotes suggest
T309 1454-1455 DT denotes a
T310 1456-1469 NN denotes re-evaluation
T311 1470-1472 IN denotes of
T312 1473-1476 DT denotes the
T313 1477-1489 NN denotes contribution
T314 1490-1492 IN denotes of
T315 1493-1494 `` denotes “
T316 1494-1498 JJ denotes null
T318 1498-1499 '' denotes ”
T317 1500-1507 NNS denotes alleles
T319 1508-1510 IN denotes to
T320 1511-1514 NN denotes XPD
T321 1515-1524 NNS denotes disorders
T322 1525-1528 CC denotes and
T323 1529-1538 VBP denotes highlight
T324 1539-1542 DT denotes the
T325 1543-1552 NN denotes potential
T326 1553-1555 IN denotes of
T327 1556-1568 NNS denotes combinations
T328 1569-1571 IN denotes of
T329 1572-1581 JJ denotes recessive
T330 1582-1589 NNS denotes alleles
T331 1590-1592 TO denotes to
T332 1593-1599 VB denotes affect
T333 1600-1604 CC denotes both
R1 T86 T84 prep of,Rescue
R10 T96 T97 mark Although,is
R100 T193 T191 pobj repair,in
R101 T194 T193 compound DNA,repair
R102 T195 T193 cc and,repair
R103 T196 T197 amod basal,transcription
R104 T197 T193 conj transcription,repair
R105 T198 T183 punct ", ",result
R106 T199 T183 prep in,result
R107 T200 T201 amod diverse,pathologies
R108 T201 T199 pobj pathologies,in
R109 T202 T201 acl ranging,pathologies
R11 T97 T114 advcl is,documented
R110 T203 T202 prep from,ranging
R111 T204 T205 amod elevated,sensitivity
R112 T205 T203 pobj sensitivity,from
R113 T206 T205 compound UV,sensitivity
R114 T207 T205 cc and,sensitivity
R115 T208 T209 compound cancer,predisposition
R116 T209 T205 conj predisposition,sensitivity
R117 T210 T203 prep to,from
R118 T211 T212 amod accelerated,progeria
R119 T212 T210 pobj progeria,to
R12 T98 T99 compound compound,heterozygosity
R120 T213 T212 amod segmental,progeria
R121 T214 T183 punct .,result
R122 T216 T217 nsubj We,report
R123 T218 T219 det a,variety
R124 T219 T217 dobj variety,report
R125 T220 T219 prep of,variety
R126 T221 T222 amod biallelic,effects
R127 T222 T220 pobj effects,of
R128 T223 T222 prep on,effects
R129 T224 T225 amod organismal,phenotype
R13 T99 T97 nsubj heterozygosity,is
R130 T225 T223 pobj phenotype,on
R131 T226 T222 amod attributable,effects
R132 T227 T226 prep to,attributable
R133 T228 T227 pobj combinations,to
R134 T229 T228 prep of,combinations
R135 T230 T231 amod recessive,alleles
R136 T231 T229 pobj alleles,of
R137 T232 T231 compound Xpd,alleles
R138 T233 T219 punct ", ",variety
R139 T234 T219 prep including,variety
R14 T100 T99 punct ", ",heterozygosity
R140 T235 T236 det the,following
R141 T236 T234 pobj following,including
R142 T237 T236 punct : ,following
R143 T238 T239 punct (,i
R144 T239 T240 meta i,ability
R145 T240 T236 appos ability,following
R146 T241 T239 punct ),i
R147 T242 T240 det the,ability
R148 T243 T240 prep of,ability
R149 T244 T245 amod homozygous,alleles
R15 T101 T99 cc or,heterozygosity
R150 T245 T243 pobj alleles,of
R151 T246 T245 amod lethal,alleles
R152 T247 T245 compound Xpd,alleles
R153 T248 T249 aux to,ameliorate
R154 T249 T240 acl ameliorate,ability
R155 T250 T251 det a,variety
R156 T251 T249 dobj variety,ameliorate
R157 T252 T251 prep of,variety
R158 T253 T254 compound disease,symptoms
R159 T254 T252 pobj symptoms,of
R16 T102 T103 det the,presence
R160 T255 T256 advmod when,supplied
R161 T256 T249 advcl supplied,ameliorate
R162 T257 T258 poss their,function
R163 T258 T256 nsubjpass function,supplied
R164 T259 T258 amod essential,function
R165 T260 T258 amod basal,function
R166 T261 T258 compound transcription,function
R167 T262 T256 auxpass is,supplied
R168 T263 T256 agent by,supplied
R169 T264 T265 det a,allele
R17 T103 T99 conj presence,heterozygosity
R170 T265 T263 pobj allele,by
R1702 T2573 T2572 prep of,Rescue
R171 T266 T265 amod different,allele
R172 T267 T268 npadvmod disease,causing
R173 T268 T265 amod causing,allele
R174 T269 T268 punct -,causing
R175 T270 T240 punct ", ",ability
R176 T271 T272 punct (,ii
R177 T272 T273 meta ii,functions
R178 T273 T240 conj functions,ability
R179 T274 T272 punct ),ii
R18 T104 T103 prep of,presence
R180 T275 T276 amod differential,developmental
R181 T276 T273 amod developmental,functions
R182 T277 T276 cc and,developmental
R183 T278 T279 npadvmod tissue,specific
R184 T279 T276 conj specific,developmental
R185 T280 T279 punct -,specific
R186 T281 T273 prep of,functions
R187 T282 T283 amod distinct,products
R188 T283 T281 pobj products,of
R189 T284 T285 compound Xpd,allele
R19 T105 T106 nummod two,alleles
R190 T285 T283 compound allele,products
R191 T286 T273 punct ", ",functions
R192 T287 T273 cc and,functions
R193 T288 T289 punct (,iii
R194 T289 T290 meta iii,complementation
R195 T290 T273 conj complementation,functions
R196 T291 T289 punct ),iii
R197 T292 T290 amod interallelic,complementation
R198 T293 T290 punct ", ",complementation
R199 T294 T295 det a,phenomenon
R2 T87 T86 pobj Progeria,of
R20 T106 T104 pobj alleles,of
R200 T295 T290 appos phenomenon,complementation
R201 T296 T297 advmod rarely,reported
R202 T297 T295 acl reported,phenomenon
R203 T298 T297 prep at,reported
R204 T299 T300 advmod clinically,relevant
R205 T300 T301 amod relevant,loci
R206 T301 T298 pobj loci,at
R207 T302 T301 prep in,loci
R208 T303 T302 pobj mammals,in
R209 T304 T217 punct .,report
R21 T107 T106 amod different,alleles
R210 T306 T307 poss Our,data
R211 T307 T308 nsubj data,suggest
R212 T309 T310 det a,re-evaluation
R213 T310 T308 dobj re-evaluation,suggest
R214 T311 T310 prep of,re-evaluation
R215 T312 T313 det the,contribution
R216 T313 T311 pobj contribution,of
R217 T314 T313 prep of,contribution
R218 T315 T314 punct “,of
R219 T316 T317 amod null,alleles
R22 T108 T106 amod mutant,alleles
R220 T317 T314 pobj alleles,of
R221 T318 T317 punct ”,alleles
R222 T319 T313 prep to,contribution
R223 T320 T321 compound XPD,disorders
R224 T321 T319 pobj disorders,to
R225 T322 T308 cc and,suggest
R226 T323 T308 conj highlight,suggest
R227 T324 T325 det the,potential
R228 T325 T323 dobj potential,highlight
R229 T326 T325 prep of,potential
R23 T109 T106 prep of,alleles
R230 T327 T326 pobj combinations,of
R231 T328 T327 prep of,combinations
R232 T329 T330 amod recessive,alleles
R233 T330 T328 pobj alleles,of
R234 T331 T332 aux to,affect
R235 T332 T325 acl affect,potential
R24 T110 T111 det the,gene
R25 T111 T109 pobj gene,of
R26 T112 T111 amod same,gene
R27 T113 T97 punct ", ",is
R28 T115 T97 acomp common,is
R29 T116 T97 prep in,is
R3 T88 T84 prep in,Rescue
R30 T117 T118 amod human,disease
R31 T118 T116 pobj disease,in
R32 T119 T118 amod recessive,disease
R33 T120 T114 punct ", ",documented
R34 T121 T122 poss its,potential
R35 T122 T114 nsubjpass potential,documented
R36 T123 T124 aux to,impact
R37 T124 T122 acl impact,potential
R38 T125 T126 compound disease,outcome
R39 T126 T124 dobj outcome,impact
R4 T89 T88 pobj Trichothiodystrophy,in
R40 T127 T114 aux has,documented
R41 T128 T114 neg not,documented
R42 T129 T114 auxpass been,documented
R43 T130 T114 advmod well,documented
R44 T131 T114 punct .,documented
R45 T133 T134 nsubj This,is
R46 T135 T136 advmod most,likely
R47 T136 T137 advmod likely,because
R48 T137 T134 prep because,is
R49 T138 T137 pcomp of,because
R5 T90 T84 prep by,Rescue
R50 T139 T140 det the,difficulty
R51 T140 T137 pobj difficulty,because
R52 T141 T140 amod inherent,difficulty
R53 T142 T140 prep in,difficulty
R54 T143 T142 pcomp distinguishing,in
R55 T144 T145 amod specific,effects
R56 T145 T143 dobj effects,distinguishing
R57 T146 T145 amod biallelic,effects
R58 T147 T143 prep from,distinguishing
R59 T148 T147 pobj differences,from
R6 T91 T92 amod Homozygous,Alleles
R60 T149 T148 prep in,differences
R61 T150 T149 pobj environment,in
R62 T151 T150 cc or,environment
R63 T152 T153 amod genetic,background
R64 T153 T150 conj background,environment
R65 T154 T134 punct .,is
R66 T156 T157 nsubj We,addressed
R67 T158 T159 det the,potential
R68 T159 T157 dobj potential,addressed
R69 T160 T159 prep of,potential
R7 T92 T90 pobj Alleles,by
R70 T161 T162 amod different,alleles
R71 T162 T160 pobj alleles,of
R72 T163 T162 amod recessive,alleles
R73 T164 T165 aux to,contribute
R74 T165 T159 acl contribute,potential
R75 T166 T165 prep to,contribute
R76 T167 T168 det the,pleiotropy
R77 T168 T166 pobj pleiotropy,to
R78 T169 T168 amod enigmatic,pleiotropy
R79 T170 T168 acl associated,pleiotropy
R8 T93 T92 amod Lethal,Alleles
R80 T171 T170 prep with,associated
R81 T172 T173 nmod XPD,disorders
R82 T173 T171 pobj disorders,with
R83 T174 T173 amod recessive,disorders
R84 T175 T170 prep in,associated
R85 T176 T177 nmod compound,models
R86 T177 T175 pobj models,in
R87 T178 T177 amod heterozygous,models
R88 T179 T177 compound mouse,models
R89 T180 T157 punct .,addressed
R9 T94 T92 compound Xpd,Alleles
R90 T182 T183 nsubj Alterations,result
R91 T184 T182 prep in,Alterations
R92 T185 T186 det this,helicase
R93 T186 T184 pobj helicase,in
R94 T187 T186 amod essential,helicase
R95 T188 T186 punct ", ",helicase
R96 T189 T186 prep with,helicase
R97 T190 T189 pobj functions,with
R98 T191 T190 prep in,functions
R99 T192 T193 preconj both,repair