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PubMed:14699510 JSONTXT 12 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-91 Sentence denotes PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.
T1 0-91 Sentence denotes PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.
TextSentencer_T2 92-224 Sentence denotes Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant genetic disorder associated with KIT germline mutations.
T2 92-224 Sentence denotes Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant genetic disorder associated with KIT germline mutations.
TextSentencer_T3 225-311 Sentence denotes In sporadic forms of the disease, somatic mutations target either KIT or PDGFRA genes.
T3 225-311 Sentence denotes In sporadic forms of the disease, somatic mutations target either KIT or PDGFRA genes.
TextSentencer_T4 312-420 Sentence denotes In a kindred in which 5 individuals had GIST, no germline mutation in KIT coding sequence has been detected.
T4 312-420 Sentence denotes In a kindred in which 5 individuals had GIST, no germline mutation in KIT coding sequence has been detected.
TextSentencer_T5 421-504 Sentence denotes We hypothesized that the PDGFRA gene could be a predisposing gene in familial GIST.
T5 421-504 Sentence denotes We hypothesized that the PDGFRA gene could be a predisposing gene in familial GIST.
TextSentencer_T6 505-610 Sentence denotes We sequenced PDGFRA exons 12 and 18 because several somatic mutations were identified within this region.
T6 505-610 Sentence denotes We sequenced PDGFRA exons 12 and 18 because several somatic mutations were identified within this region.
TextSentencer_T7 611-760 Sentence denotes We detected a germline PDGFRA missense mutation, 2675G > T, resulting in a tyrosine substitution for the highly conserved aspartic acid at codon 846.
T7 611-760 Sentence denotes We detected a germline PDGFRA missense mutation, 2675G > T, resulting in a tyrosine substitution for the highly conserved aspartic acid at codon 846.
TextSentencer_T8 761-862 Sentence denotes This mutation showed perfect cosegregation with the GIST phenotype among the 7 family members tested.
T8 761-862 Sentence denotes This mutation showed perfect cosegregation with the GIST phenotype among the 7 family members tested.
TextSentencer_T9 863-974 Sentence denotes Interestingly, PDGFRA Asp846 is homologous to codon 820, which is located in the KIT tyrosine kinase II domain.
T9 863-974 Sentence denotes Interestingly, PDGFRA Asp846 is homologous to codon 820, which is located in the KIT tyrosine kinase II domain.
TextSentencer_T10 975-1097 Sentence denotes In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST.
T10 975-1097 Sentence denotes In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST.
TextSentencer_T11 1098-1237 Sentence denotes Transfection of a KIT820Tyr complementary DNA in nude mice was found to be tumorigenic confirming the oncogenic potential of this mutation.
T11 1098-1237 Sentence denotes Transfection of a KIT820Tyr complementary DNA in nude mice was found to be tumorigenic confirming the oncogenic potential of this mutation.
TextSentencer_T12 1238-1318 Sentence denotes The present study shows that PDGFRA is a second familial GIST predisposing gene.
T12 1238-1318 Sentence denotes The present study shows that PDGFRA is a second familial GIST predisposing gene.
TextSentencer_T13 1319-1434 Sentence denotes These results indicate a further example of involvement of structurally related genes in familial cancer syndromes.
T13 1319-1434 Sentence denotes These results indicate a further example of involvement of structurally related genes in familial cancer syndromes.