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PMC:1584416 / 32439-33966 JSONTXT 5 Projects

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Id Subject Object Predicate Lexical cue
T6053 0-2 IN denotes In
T6055 3-9 NNS denotes humans
T6056 9-11 , denotes ,
T6057 11-14 DT denotes the
T6059 15-23 JJ denotes clinical
T6058 24-33 NN denotes relevance
T6060 34-36 IN denotes of
T6061 37-46 JJ denotes biallelic
T6062 47-54 NNS denotes effects
T6063 55-59 JJ denotes such
T6064 60-62 IN denotes as
T6065 63-75 JJ denotes interallelic
T6066 76-91 NN denotes complementation
T6054 92-99 VBZ denotes remains
T6067 100-107 JJ denotes unknown
T6068 107-108 . denotes .
T6069 108-352 sentence denotes Although interallelic complementation between two endogenous mutant alleles has been described in cells from a compound heterozygous patient with methylmalonic acidaemia, no observable effects on disease outcome were noted in the patient [28].
T6070 109-117 IN denotes Although
T6072 118-130 JJ denotes interallelic
T6073 131-146 NN denotes complementation
T6074 147-154 IN denotes between
T6075 155-158 CD denotes two
T6077 159-169 JJ denotes endogenous
T6078 170-176 JJ denotes mutant
T6076 177-184 NNS denotes alleles
T6079 185-188 VBZ denotes has
T6080 189-193 VBN denotes been
T6071 194-203 VBN denotes described
T6082 204-206 IN denotes in
T6083 207-212 NNS denotes cells
T6084 213-217 IN denotes from
T6085 218-219 DT denotes a
T6087 220-228 NN denotes compound
T6088 229-241 JJ denotes heterozygous
T6086 242-249 NN denotes patient
T6089 250-254 IN denotes with
T6090 255-268 JJ denotes methylmalonic
T6091 269-278 NN denotes acidaemia
T6092 278-280 , denotes ,
T6093 280-282 DT denotes no
T6095 283-293 JJ denotes observable
T6094 294-301 NNS denotes effects
T6096 302-304 IN denotes on
T6097 305-312 NN denotes disease
T6098 313-320 NN denotes outcome
T6099 321-325 VBD denotes were
T6081 326-331 VBN denotes noted
T6100 332-334 IN denotes in
T6101 335-338 DT denotes the
T6102 339-346 NN denotes patient
T6103 347-348 -LRB- denotes [
T6104 348-350 CD denotes 28
T6105 350-351 -RRB- denotes ]
T6106 351-352 . denotes .
T6107 352-570 sentence denotes Thus, to the best of our knowledge, the amelioration of progeroid features observed here is the first in vivo demonstration in compound heterozygous animals of interallelic complementation relevant to a human disease.
T6108 353-357 RB denotes Thus
T6110 357-359 , denotes ,
T6111 359-361 IN denotes to
T6112 362-365 DT denotes the
T6113 366-370 JJS denotes best
T6114 371-373 IN denotes of
T6115 374-377 PRP$ denotes our
T6116 378-387 NN denotes knowledge
T6117 387-389 , denotes ,
T6118 389-392 DT denotes the
T6119 393-405 NN denotes amelioration
T6120 406-408 IN denotes of
T6121 409-418 JJ denotes progeroid
T6122 419-427 NNS denotes features
T6123 428-436 VBN denotes observed
T6124 437-441 RB denotes here
T6109 442-444 VBZ denotes is
T6125 445-448 DT denotes the
T6127 449-454 JJ denotes first
T6128 455-457 FW denotes in
T6129 458-462 FW denotes vivo
T6126 463-476 NN denotes demonstration
T6130 477-479 IN denotes in
T6131 480-488 NN denotes compound
T6133 489-501 JJ denotes heterozygous
T6132 502-509 NNS denotes animals
T6134 510-512 IN denotes of
T6135 513-525 JJ denotes interallelic
T6136 526-541 NN denotes complementation
T6137 542-550 JJ denotes relevant
T6138 551-553 IN denotes to
T6139 554-555 DT denotes a
T6141 556-561 JJ denotes human
T6140 562-569 NN denotes disease
T6142 569-570 . denotes .
T6143 570-946 sentence denotes Keeping in mind that the ~1,200 alleles known to exist for the CTRF gene implicated in the common autosomal recessive disorder cystic fibrosis alone [29] can theoretically result in ~700,000 different allelic combinations, the potential number of allelic combinations of different recessive mutations and single nucleotide polymorphisms genome-wide is currently incalculable.
T6144 571-578 VBG denotes Keeping
T6146 579-581 IN denotes in
T6147 582-586 NN denotes mind
T6148 587-591 IN denotes that
T6150 592-595 DT denotes the
T6152 596-597 SYM denotes ~
T6153 597-602 CD denotes 1,200
T6151 603-610 NNS denotes alleles
T6154 611-616 VBN denotes known
T6155 617-619 TO denotes to
T6156 620-625 VB denotes exist
T6157 626-629 IN denotes for
T6158 630-633 DT denotes the
T6160 634-638 NN denotes CTRF
T6159 639-643 NN denotes gene
T6161 644-654 VBN denotes implicated
T6162 655-657 IN denotes in
T6163 658-661 DT denotes the
T6165 662-668 JJ denotes common
T6166 669-678 JJ denotes autosomal
T6167 679-688 JJ denotes recessive
T6164 689-697 NN denotes disorder
T6168 698-704 JJ denotes cystic
T6169 705-713 NN denotes fibrosis
T6170 714-719 RB denotes alone
T6171 720-721 -LRB- denotes [
T6172 721-723 CD denotes 29
T6173 723-724 -RRB- denotes ]
T6174 725-728 MD denotes can
T6175 729-742 RB denotes theoretically
T6149 743-749 VB denotes result
T6176 750-752 IN denotes in
T6177 753-754 SYM denotes ~
T6178 754-761 CD denotes 700,000
T6180 762-771 JJ denotes different
T6181 772-779 JJ denotes allelic
T6179 780-792 NNS denotes combinations
T6182 792-794 , denotes ,
T6183 794-797 DT denotes the
T6185 798-807 JJ denotes potential
T6184 808-814 NN denotes number
T6186 815-817 IN denotes of
T6187 818-825 JJ denotes allelic
T6188 826-838 NNS denotes combinations
T6189 839-841 IN denotes of
T6190 842-851 JJ denotes different
T6192 852-861 JJ denotes recessive
T6191 862-871 NNS denotes mutations
T6193 872-875 CC denotes and
T6194 876-882 JJ denotes single
T6196 883-893 NN denotes nucleotide
T6195 894-907 NNS denotes polymorphisms
T6197 908-914 NN denotes genome
T6199 914-915 HYPH denotes -
T6198 915-919 JJ denotes wide
T6145 920-922 VBZ denotes is
T6200 923-932 RB denotes currently
T6201 933-945 JJ denotes incalculable
T6202 945-946 . denotes .
T6203 946-1153 sentence denotes We suggest biallelic effects as a previously underestimated yet important variable in considering genotype–phenotype relationships from autosomal recessive disease to normal phenotypic diversity in mammals.
T6204 947-949 PRP denotes We
T6205 950-957 VBP denotes suggest
T6206 958-967 JJ denotes biallelic
T6207 968-975 NNS denotes effects
T6208 976-978 IN denotes as
T6209 979-980 DT denotes a
T6211 981-991 RB denotes previously
T6212 992-1006 VBN denotes underestimated
T6214 1007-1010 RB denotes yet
T6213 1011-1020 JJ denotes important
T6210 1021-1029 NN denotes variable
T6215 1030-1032 IN denotes in
T6216 1033-1044 VBG denotes considering
T6217 1045-1053 NN denotes genotype
T6219 1053-1054 HYPH denotes –
T6218 1054-1063 NN denotes phenotype
T6220 1064-1077 NNS denotes relationships
T6221 1078-1082 IN denotes from
T6222 1083-1092 JJ denotes autosomal
T6224 1093-1102 JJ denotes recessive
T6223 1103-1110 NN denotes disease
T6225 1111-1113 IN denotes to
T6226 1114-1120 JJ denotes normal
T6228 1121-1131 JJ denotes phenotypic
T6227 1132-1141 NN denotes diversity
T6229 1142-1144 IN denotes in
T6230 1145-1152 NNS denotes mammals
T6231 1152-1153 . denotes .
T6232 1153-1330 sentence denotes Extension of the above concept implies that recessive mutations can enter evolutionary selection in F1 provided that the second allele carries a different recessive alteration.
T6233 1154-1163 NN denotes Extension
T6235 1164-1166 IN denotes of
T6236 1167-1170 DT denotes the
T6238 1171-1176 JJ denotes above
T6237 1177-1184 NN denotes concept
T6234 1185-1192 VBZ denotes implies
T6239 1193-1197 IN denotes that
T6241 1198-1207 JJ denotes recessive
T6242 1208-1217 NNS denotes mutations
T6243 1218-1221 MD denotes can
T6240 1222-1227 VB denotes enter
T6244 1228-1240 JJ denotes evolutionary
T6245 1241-1250 NN denotes selection
T6246 1251-1253 IN denotes in
T6247 1254-1256 NN denotes F1
T6248 1257-1265 VBN denotes provided
T6249 1266-1270 IN denotes that
T6251 1271-1274 DT denotes the
T6253 1275-1281 JJ denotes second
T6252 1282-1288 NN denotes allele
T6250 1289-1296 VBZ denotes carries
T6254 1297-1298 DT denotes a
T6256 1299-1308 JJ denotes different
T6257 1309-1318 JJ denotes recessive
T6255 1319-1329 NN denotes alteration
T6258 1329-1330 . denotes .
T6259 1330-1527 sentence denotes Finally, our data highlight the potential of clinically relevant alleles previously designated as null, with little or no detectable expression or activity, to nonetheless contribute to phenotype.
T6260 1331-1338 RB denotes Finally
T6262 1338-1340 , denotes ,
T6263 1340-1343 PRP$ denotes our
T6264 1344-1348 NNS denotes data
T6261 1349-1358 VBP denotes highlight
T6265 1359-1362 DT denotes the
T6266 1363-1372 NN denotes potential
T6267 1373-1375 IN denotes of
T6268 1376-1386 RB denotes clinically
T6269 1387-1395 JJ denotes relevant
T6270 1396-1403 NNS denotes alleles
T6271 1404-1414 RB denotes previously
T6272 1415-1425 VBN denotes designated
T6273 1426-1428 IN denotes as
T6274 1429-1433 JJ denotes null
T6275 1433-1435 , denotes ,
T6276 1435-1439 IN denotes with
T6277 1440-1446 JJ denotes little
T6279 1447-1449 CC denotes or
T6280 1450-1452 DT denotes no
T6281 1453-1463 JJ denotes detectable
T6278 1464-1474 NN denotes expression
T6282 1475-1477 CC denotes or
T6283 1478-1486 NN denotes activity
T6284 1486-1488 , denotes ,
T6285 1488-1490 TO denotes to
T6287 1491-1502 RB denotes nonetheless
T6286 1503-1513 VB denotes contribute
T6288 1514-1516 IN denotes to
T6289 1517-1526 NN denotes phenotype
T6290 1526-1527 . denotes .
R4110 T6053 T6054 prep In,remains
R4111 T6055 T6053 pobj humans,In
R4112 T6056 T6054 punct ", ",remains
R4113 T6057 T6058 det the,relevance
R4114 T6058 T6054 nsubj relevance,remains
R4115 T6059 T6058 amod clinical,relevance
R4116 T6060 T6058 prep of,relevance
R4117 T6061 T6062 amod biallelic,effects
R4118 T6062 T6060 pobj effects,of
R4119 T6063 T6064 amod such,as
R4120 T6064 T6062 prep as,effects
R4121 T6065 T6066 amod interallelic,complementation
R4122 T6066 T6064 pobj complementation,as
R4123 T6067 T6054 acomp unknown,remains
R4124 T6068 T6054 punct .,remains
R4125 T6070 T6071 mark Although,described
R4126 T6071 T6081 advcl described,noted
R4127 T6072 T6073 amod interallelic,complementation
R4128 T6073 T6071 nsubjpass complementation,described
R4129 T6074 T6073 prep between,complementation
R4130 T6075 T6076 nummod two,alleles
R4131 T6076 T6074 pobj alleles,between
R4132 T6077 T6076 amod endogenous,alleles
R4133 T6078 T6076 amod mutant,alleles
R4134 T6079 T6071 aux has,described
R4135 T6080 T6071 auxpass been,described
R4136 T6082 T6071 prep in,described
R4137 T6083 T6082 pobj cells,in
R4138 T6084 T6083 prep from,cells
R4139 T6085 T6086 det a,patient
R4140 T6086 T6084 pobj patient,from
R4141 T6087 T6086 nmod compound,patient
R4142 T6088 T6086 amod heterozygous,patient
R4143 T6089 T6086 prep with,patient
R4144 T6090 T6091 amod methylmalonic,acidaemia
R4145 T6091 T6089 pobj acidaemia,with
R4146 T6092 T6081 punct ", ",noted
R4147 T6093 T6094 det no,effects
R4148 T6094 T6081 nsubjpass effects,noted
R4149 T6095 T6094 amod observable,effects
R4150 T6096 T6094 prep on,effects
R4151 T6097 T6098 compound disease,outcome
R4152 T6098 T6096 pobj outcome,on
R4153 T6099 T6081 auxpass were,noted
R4154 T6100 T6081 prep in,noted
R4155 T6101 T6102 det the,patient
R4156 T6102 T6100 pobj patient,in
R4157 T6103 T6104 punct [,28
R4158 T6104 T6081 parataxis 28,noted
R4159 T6105 T6104 punct ],28
R4160 T6106 T6081 punct .,noted
R4161 T6108 T6109 advmod Thus,is
R4162 T6110 T6109 punct ", ",is
R4163 T6111 T6109 prep to,is
R4164 T6112 T6113 det the,best
R4165 T6113 T6111 pobj best,to
R4166 T6114 T6113 prep of,best
R4167 T6115 T6116 poss our,knowledge
R4168 T6116 T6114 pobj knowledge,of
R4169 T6117 T6109 punct ", ",is
R4170 T6118 T6119 det the,amelioration
R4171 T6119 T6109 nsubj amelioration,is
R4172 T6120 T6119 prep of,amelioration
R4173 T6121 T6122 amod progeroid,features
R4174 T6122 T6120 pobj features,of
R4175 T6123 T6119 acl observed,amelioration
R4176 T6124 T6123 advmod here,observed
R4177 T6125 T6126 det the,demonstration
R4178 T6126 T6109 attr demonstration,is
R4179 T6127 T6126 amod first,demonstration
R4180 T6128 T6129 advmod in,vivo
R4181 T6129 T6126 amod vivo,demonstration
R4182 T6130 T6126 prep in,demonstration
R4183 T6131 T6132 nmod compound,animals
R4184 T6132 T6130 pobj animals,in
R4185 T6133 T6132 amod heterozygous,animals
R4186 T6134 T6132 prep of,animals
R4187 T6135 T6136 amod interallelic,complementation
R4188 T6136 T6134 pobj complementation,of
R4189 T6137 T6126 amod relevant,demonstration
R4190 T6138 T6137 prep to,relevant
R4191 T6139 T6140 det a,disease
R4192 T6140 T6138 pobj disease,to
R4193 T6141 T6140 amod human,disease
R4194 T6142 T6109 punct .,is
R4195 T6144 T6145 advcl Keeping,is
R4196 T6146 T6144 prep in,Keeping
R4197 T6147 T6146 pobj mind,in
R4198 T6148 T6149 mark that,result
R4199 T6149 T6144 ccomp result,Keeping
R4200 T6150 T6151 det the,alleles
R4201 T6151 T6149 nsubj alleles,result
R4202 T6152 T6153 punct ~,"1,200"
R4203 T6153 T6151 nummod "1,200",alleles
R4204 T6154 T6151 acl known,alleles
R4205 T6155 T6156 aux to,exist
R4206 T6156 T6154 xcomp exist,known
R4207 T6157 T6156 prep for,exist
R4208 T6158 T6159 det the,gene
R4209 T6159 T6157 pobj gene,for
R4210 T6160 T6159 compound CTRF,gene
R4211 T6161 T6159 acl implicated,gene
R4212 T6162 T6161 prep in,implicated
R4213 T6163 T6164 det the,disorder
R4214 T6164 T6162 pobj disorder,in
R4215 T6165 T6164 amod common,disorder
R4216 T6166 T6164 amod autosomal,disorder
R4217 T6167 T6164 amod recessive,disorder
R4218 T6168 T6169 amod cystic,fibrosis
R4219 T6169 T6164 appos fibrosis,disorder
R4220 T6170 T6161 advmod alone,implicated
R4221 T6171 T6172 punct [,29
R4222 T6172 T6154 parataxis 29,known
R4223 T6173 T6172 punct ],29
R4224 T6174 T6149 aux can,result
R4225 T6175 T6149 advmod theoretically,result
R4226 T6176 T6149 prep in,result
R4227 T6177 T6178 punct ~,"700,000"
R4228 T6178 T6179 nummod "700,000",combinations
R4229 T6179 T6176 pobj combinations,in
R4230 T6180 T6179 amod different,combinations
R4231 T6181 T6179 amod allelic,combinations
R4232 T6182 T6145 punct ", ",is
R4233 T6183 T6184 det the,number
R4234 T6184 T6145 nsubj number,is
R4235 T6185 T6184 amod potential,number
R4236 T6186 T6184 prep of,number
R4237 T6187 T6188 amod allelic,combinations
R4238 T6188 T6186 pobj combinations,of
R4239 T6189 T6188 prep of,combinations
R4240 T6190 T6191 amod different,mutations
R4241 T6191 T6189 pobj mutations,of
R4242 T6192 T6191 amod recessive,mutations
R4243 T6193 T6191 cc and,mutations
R4244 T6194 T6195 amod single,polymorphisms
R4245 T6195 T6191 conj polymorphisms,mutations
R4246 T6196 T6195 compound nucleotide,polymorphisms
R4247 T6197 T6198 npadvmod genome,wide
R4248 T6198 T6184 amod wide,number
R4249 T6199 T6198 punct -,wide
R4250 T6200 T6145 advmod currently,is
R4251 T6201 T6145 acomp incalculable,is
R4252 T6202 T6145 punct .,is
R4253 T6204 T6205 nsubj We,suggest
R4254 T6206 T6207 amod biallelic,effects
R4255 T6207 T6205 dobj effects,suggest
R4256 T6208 T6205 prep as,suggest
R4257 T6209 T6210 det a,variable
R4258 T6210 T6208 pobj variable,as
R4259 T6211 T6212 advmod previously,underestimated
R4260 T6212 T6213 amod underestimated,important
R4261 T6213 T6210 amod important,variable
R4262 T6214 T6213 advmod yet,important
R4263 T6215 T6205 prep in,suggest
R4264 T6216 T6215 pcomp considering,in
R4265 T6217 T6218 compound genotype,phenotype
R4266 T6218 T6220 compound phenotype,relationships
R4267 T6219 T6218 punct –,phenotype
R4268 T6220 T6216 dobj relationships,considering
R4269 T6221 T6216 prep from,considering
R4270 T6222 T6223 amod autosomal,disease
R4271 T6223 T6221 pobj disease,from
R4272 T6224 T6223 amod recessive,disease
R4273 T6225 T6221 prep to,from
R4274 T6226 T6227 amod normal,diversity
R4275 T6227 T6225 pobj diversity,to
R4276 T6228 T6227 amod phenotypic,diversity
R4277 T6229 T6216 prep in,considering
R4278 T6230 T6229 pobj mammals,in
R4279 T6231 T6205 punct .,suggest
R4280 T6233 T6234 nsubj Extension,implies
R4281 T6235 T6233 prep of,Extension
R4282 T6236 T6237 det the,concept
R4283 T6237 T6235 pobj concept,of
R4284 T6238 T6237 amod above,concept
R4285 T6239 T6240 mark that,enter
R4286 T6240 T6234 ccomp enter,implies
R4287 T6241 T6242 amod recessive,mutations
R4288 T6242 T6240 nsubj mutations,enter
R4289 T6243 T6240 aux can,enter
R4290 T6244 T6245 amod evolutionary,selection
R4291 T6245 T6240 dobj selection,enter
R4292 T6246 T6240 prep in,enter
R4293 T6247 T6246 pobj F1,in
R4294 T6248 T6240 prep provided,enter
R4295 T6249 T6250 mark that,carries
R4296 T6250 T6248 pcomp carries,provided
R4297 T6251 T6252 det the,allele
R4298 T6252 T6250 nsubj allele,carries
R4299 T6253 T6252 amod second,allele
R4300 T6254 T6255 det a,alteration
R4301 T6255 T6250 dobj alteration,carries
R4302 T6256 T6255 amod different,alteration
R4303 T6257 T6255 amod recessive,alteration
R4304 T6258 T6234 punct .,implies
R4305 T6260 T6261 advmod Finally,highlight
R4306 T6262 T6261 punct ", ",highlight
R4307 T6263 T6264 poss our,data
R4308 T6264 T6261 nsubj data,highlight
R4309 T6265 T6266 det the,potential
R4310 T6266 T6261 dobj potential,highlight
R4311 T6267 T6266 prep of,potential
R4312 T6268 T6269 advmod clinically,relevant
R4313 T6269 T6270 amod relevant,alleles
R4314 T6270 T6267 pobj alleles,of
R4315 T6271 T6272 advmod previously,designated
R4316 T6272 T6270 acl designated,alleles
R4317 T6273 T6272 prep as,designated
R4318 T6274 T6273 amod null,as
R4319 T6275 T6270 punct ", ",alleles
R4320 T6276 T6270 prep with,alleles
R4321 T6277 T6278 amod little,expression
R4322 T6278 T6276 pobj expression,with
R4323 T6279 T6277 cc or,little
R4324 T6280 T6277 conj no,little
R4325 T6281 T6278 amod detectable,expression
R4326 T6282 T6278 cc or,expression
R4327 T6283 T6278 conj activity,expression
R4328 T6284 T6266 punct ", ",potential
R4329 T6285 T6286 aux to,contribute
R4330 T6286 T6266 acl contribute,potential
R4331 T6287 T6286 advmod nonetheless,contribute
R4332 T6288 T6286 prep to,contribute
R4333 T6289 T6288 pobj phenotype,to
R4334 T6290 T6261 punct .,highlight