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PubMed:21943124 JSONTXT 11 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-86 Sentence denotes A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.
T1 0-86 Sentence denotes A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.
TextSentencer_T2 87-98 Sentence denotes BACKGROUND:
T2 87-98 Sentence denotes BACKGROUND:
TextSentencer_T3 99-384 Sentence denotes Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively) with differing repertoires of FGF-binding specificity.
T3 99-384 Sentence denotes Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively) with differing repertoires of FGF-binding specificity.
TextSentencer_T4 385-524 Sentence denotes Here we describe a unique chimeric IIIb/c exon in a patient with Apert syndrome, generated by a non-allelic homologous recombination event.
T4 385-524 Sentence denotes Here we describe a unique chimeric IIIb/c exon in a patient with Apert syndrome, generated by a non-allelic homologous recombination event.
TextSentencer_T5 525-543 Sentence denotes CASE PRESENTATION:
T5 525-543 Sentence denotes CASE PRESENTATION:
TextSentencer_T6 544-696 Sentence denotes We present a child with Apert syndrome in whom routine genetic testing had excluded the FGFR2 missense mutations commonly associated with this disorder.
T6 544-696 Sentence denotes We present a child with Apert syndrome in whom routine genetic testing had excluded the FGFR2 missense mutations commonly associated with this disorder.
TextSentencer_T7 697-901 Sentence denotes The patient was found to harbour a heterozygous 1372 bp deletion between FGFR2 exons IIIb and IIIc, apparently originating from recombination between 13 bp of identical DNA sequence present in both exons.
T7 697-901 Sentence denotes The patient was found to harbour a heterozygous 1372 bp deletion between FGFR2 exons IIIb and IIIc, apparently originating from recombination between 13 bp of identical DNA sequence present in both exons.
TextSentencer_T8 902-962 Sentence denotes The rearrangement was not present in the unaffected parents.
T8 902-962 Sentence denotes The rearrangement was not present in the unaffected parents.
TextSentencer_T9 963-975 Sentence denotes CONCLUSIONS:
T9 963-975 Sentence denotes CONCLUSIONS:
TextSentencer_T10 976-1112 Sentence denotes Based on the known pathogenesis of Apert syndrome, the chimeric FGFR2 protein is predicted to act in a dominant gain-of-function manner.
T10 976-1112 Sentence denotes Based on the known pathogenesis of Apert syndrome, the chimeric FGFR2 protein is predicted to act in a dominant gain-of-function manner.
TextSentencer_T11 1113-1297 Sentence denotes This is likely to result from its expression in mesenchymal tissues, where retention of most of the residues essential for FGFR2b binding activity would result in autocrine activation.
T11 1113-1297 Sentence denotes This is likely to result from its expression in mesenchymal tissues, where retention of most of the residues essential for FGFR2b binding activity would result in autocrine activation.
TextSentencer_T12 1298-1449 Sentence denotes This report adds to the repertoire of rare cases of Apert syndrome for which a pathogenesis based on atypical FGFR2 rearrangements can be demonstrated.
T12 1298-1449 Sentence denotes This report adds to the repertoire of rare cases of Apert syndrome for which a pathogenesis based on atypical FGFR2 rearrangements can be demonstrated.