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PubMed:7857677 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-162 Sentence denotes Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?
TextSentencer_T2 163-269 Sentence denotes Gaucher disease (GD) is an inherited deficiency of beta-glucocerebrosidase (EC 3.1.2.45, gene symbol GBA).
TextSentencer_T3 270-523 Sentence denotes In type I GD, the CNS is not involved (nonneuronopathic), whereas in type II GD (acute neuronopathic) CNS involvement is early and rapidly progressive, while in type III GD (subacute neuronopathic) CNS involvement occurs later and is slowly progressive.
TextSentencer_T4 524-583 Sentence denotes The T6433C (L444P) substitution is prevalent in type GD II.
TextSentencer_T5 584-817 Sentence denotes It may occur alone as a single base-pair mutation but often is found as part of a complex allele containing additional GBA nucleotide substitutions, G6468C (A456P) and G6482C (V460V), without (recNciI) or with (recTL) G5957C (D409H).
TextSentencer_T6 818-983 Sentence denotes This complex allele is presumed to have formed by recombination (crossover, fusion) of the structural gene with the pseudogene, which contains the mutated sequences.
TextSentencer_T7 984-1062 Sentence denotes Two complex alleles have never been demonstrated to coexist in any individual.
TextSentencer_T8 1063-1161 Sentence denotes We devised a selective PCR method for the specific amplification of the normal and/or fusion gene.
TextSentencer_T9 1162-1304 Sentence denotes Using this procedure we demonstrated the fusion gene in homozygous form for the first time, in a Macedonian/Ashkenazi Jewish GD type II fetus.
TextSentencer_T10 1305-1353 Sentence denotes Both parents were carriers of the recombination.
TextSentencer_T11 1354-1401 Sentence denotes This was confirmed by direct sequence analysis.
TextSentencer_T12 1402-1500 Sentence denotes A previous conceptus in this family was stillborn at 36 weeks, with features of severe type II GD.
TextSentencer_T13 1501-1819 Sentence denotes Neonates showing a severe clinical phenotype, analogous to the early neonatal lethal disease occurring in mice homozygous for a null allele produced by targeted disruption of GBA, have been described elsewhere, but the specific mutations in these cases have not yet been characterized.(ABSTRACT TRUNCATED AT 250 WORDS)
T1 0-162 Sentence denotes Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?
T2 163-269 Sentence denotes Gaucher disease (GD) is an inherited deficiency of beta-glucocerebrosidase (EC 3.1.2.45, gene symbol GBA).
T3 270-523 Sentence denotes In type I GD, the CNS is not involved (nonneuronopathic), whereas in type II GD (acute neuronopathic) CNS involvement is early and rapidly progressive, while in type III GD (subacute neuronopathic) CNS involvement occurs later and is slowly progressive.
T4 524-583 Sentence denotes The T6433C (L444P) substitution is prevalent in type GD II.
T5 584-817 Sentence denotes It may occur alone as a single base-pair mutation but often is found as part of a complex allele containing additional GBA nucleotide substitutions, G6468C (A456P) and G6482C (V460V), without (recNciI) or with (recTL) G5957C (D409H).
T6 818-983 Sentence denotes This complex allele is presumed to have formed by recombination (crossover, fusion) of the structural gene with the pseudogene, which contains the mutated sequences.
T7 984-1062 Sentence denotes Two complex alleles have never been demonstrated to coexist in any individual.
T8 1063-1161 Sentence denotes We devised a selective PCR method for the specific amplification of the normal and/or fusion gene.
T9 1162-1304 Sentence denotes Using this procedure we demonstrated the fusion gene in homozygous form for the first time, in a Macedonian/Ashkenazi Jewish GD type II fetus.
T10 1305-1353 Sentence denotes Both parents were carriers of the recombination.
T11 1354-1401 Sentence denotes This was confirmed by direct sequence analysis.
T12 1402-1500 Sentence denotes A previous conceptus in this family was stillborn at 36 weeks, with features of severe type II GD.
T13 1501-1819 Sentence denotes Neonates showing a severe clinical phenotype, analogous to the early neonatal lethal disease occurring in mice homozygous for a null allele produced by targeted disruption of GBA, have been described elsewhere, but the specific mutations in these cases have not yet been characterized.(ABSTRACT TRUNCATED AT 250 WORDS)

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1413-1422 http://purl.obolibrary.org/obo/UBERON_0004716 denotes conceptus

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1413-1422 http://purl.obolibrary.org/obo/UBERON_0004716 denotes conceptus

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 163-178 ORDO:355 denotes Gaucher disease
TI1 84-99 ORDO:355 denotes Gaucher disease

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 76-99 Modifier:D005776 denotes type II Gaucher disease
T2 163-178 SpecificDisease:D005776 denotes Gaucher disease
T3 180-182 SpecificDisease:D005776 denotes GD
T4 200-237 SpecificDisease:D005776 denotes deficiency of beta-glucocerebrosidase
T5 273-282 SpecificDisease:D005776 denotes type I GD
T6 339-349 SpecificDisease:D005776 denotes type II GD
T7 431-442 SpecificDisease:D005776 denotes type III GD
T8 572-582 SpecificDisease:D005776 denotes type GD II
T9 1287-1297 Modifier:D005776 denotes GD type II
T10 1442-1451 DiseaseClass:D005313 denotes stillborn
T11 1489-1499 SpecificDisease:D005776 denotes type II GD

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T4600 76-99 Modifier denotes type II Gaucher disease D005776
T4601 163-178 SpecificDisease denotes Gaucher disease D005776
T4602 180-182 SpecificDisease denotes GD D005776
T4603 200-237 SpecificDisease denotes deficiency of beta-glucocerebrosidase D005776
T4604 273-282 SpecificDisease denotes type I GD D005776
T4605 339-349 SpecificDisease denotes type II GD D005776
T4606 431-442 SpecificDisease denotes type III GD D005776
T4607 572-582 SpecificDisease denotes type GD II D005776
T4608 1287-1297 Modifier denotes GD type II D005776
T4609 1442-1451 DiseaseClass denotes stillborn D005313
T4610 1489-1499 SpecificDisease denotes type II GD D005776

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T4600 76-99 Modifier denotes type II Gaucher disease D005776
T4601 163-178 SpecificDisease denotes Gaucher disease D005776
T4602 180-182 SpecificDisease denotes GD D005776
T4603 200-237 SpecificDisease denotes deficiency of beta-glucocerebrosidase D005776
T4604 273-282 SpecificDisease denotes type I GD D005776
T4605 339-349 SpecificDisease denotes type II GD D005776
T4606 431-442 SpecificDisease denotes type III GD D005776
T4607 572-582 SpecificDisease denotes type GD II D005776
T4608 1287-1297 Modifier denotes GD type II D005776
T4609 1442-1451 DiseaseClass denotes stillborn D005313
T4610 1489-1499 SpecificDisease denotes type II GD D005776

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 84-99 Modifier denotes Gaucher disease
T2 132-139 Modifier denotes Gaucher
T3 163-178 SpecificDisease denotes Gaucher disease
T4 280-282 Modifier denotes GD
T5 347-349 Modifier denotes GD
T6 440-442 Modifier denotes GD
T7 577-582 Modifier denotes GD II
T8 1287-1297 Modifier denotes GD type II
T9 1497-1499 Modifier denotes GD
T10 1586-1593 Modifier denotes disease

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 84-99 Modifier denotes Gaucher disease
T2 132-139 Modifier denotes Gaucher
T3 163-178 SpecificDisease denotes Gaucher disease
T4 180-182 SpecificDisease denotes GD
T5 280-282 Modifier denotes GD
T6 347-349 Modifier denotes GD
T7 440-442 Modifier denotes GD
T8 577-579 Modifier denotes GD
T9 1287-1289 Modifier denotes GD
T10 1497-1499 Modifier denotes GD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 76-99 SpecificDisease denotes type II Gaucher disease
T2 163-178 SpecificDisease denotes Gaucher disease
T3 273-282 Modifier denotes type I GD
T4 339-349 SpecificDisease denotes type II GD
T5 431-442 Modifier denotes type III GD
T6 572-582 Modifier denotes type GD II
T7 1290-1297 SpecificDisease denotes type II
T8 1489-1499 SpecificDisease denotes type II GD
T9 1586-1593 SpecificDisease denotes disease

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 84-99 SpecificDisease denotes Gaucher disease
T2 132-139 SpecificDisease denotes Gaucher
T3 163-183 SpecificDisease denotes Gaucher disease (GD)
T4 273-282 SpecificDisease denotes type I GD
T5 339-349 SpecificDisease denotes type II GD
T6 431-442 SpecificDisease denotes type III GD
T7 572-582 SpecificDisease denotes type GD II
T8 1287-1297 SpecificDisease denotes GD type II
T9 1489-1499 SpecificDisease denotes type II GD
T10 1586-1593 DiseaseClass denotes disease