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sentences

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.
TextSentencer_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.
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.
TextSentencer_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.
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.
TextSentencer_T8 902-962 Sentence denotes The rearrangement was not present in the unaffected parents.
TextSentencer_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.
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.
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.
T1 0-86 Sentence denotes A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome.
T2 87-98 Sentence denotes BACKGROUND:
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.
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.
T5 525-543 Sentence denotes CASE PRESENTATION:
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.
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.
T8 902-962 Sentence denotes The rearrangement was not present in the unaffected parents.
T9 963-975 Sentence denotes CONCLUSIONS:
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.
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.
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.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 14-19 gene:2263 denotes FGFR2
T1 71-85 disease:C0001193 denotes Apert syndrome
T2 632-637 gene:2263 denotes FGFR2
T3 568-582 disease:C0001193 denotes Apert syndrome
T4 1408-1413 gene:2263 denotes FGFR2
T5 1350-1364 disease:C0001193 denotes Apert syndrome
R1 T0 T1 associated_with FGFR2,Apert syndrome
R2 T2 T3 associated_with FGFR2,Apert syndrome
R3 T4 T5 associated_with FGFR2,Apert syndrome

Allie

Id Subject Object Predicate Lexical cue
SS1_21943124_2_0 113-153 expanded denotes fibroblast growth factor receptor type 2
SS2_21943124_2_0 155-160 abbr denotes FGFR2
AE1_21943124_2_0 SS1_21943124_2_0 SS2_21943124_2_0 abbreviatedTo fibroblast growth factor receptor type 2,FGFR2

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
21943124-0#14#19#gene2263 14-19 gene2263 denotes FGFR2
21943124-0#71#85#diseaseC0001193 71-85 diseaseC0001193 denotes Apert syndrome
14#19#gene226371#85#diseaseC0001193 21943124-0#14#19#gene2263 21943124-0#71#85#diseaseC0001193 associated_with FGFR2,Apert syndrome

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 182-188 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T2 1173-1180 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissues
PD-UBERON-AE-B_T3 1161-1172 http://purl.obolibrary.org/obo/UBERON_0003104 denotes mesenchymal

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 71-85 ORDO:87 denotes Apert syndrome
AB1 450-464 ORDO:87 denotes Apert syndrome
AB2 568-582 ORDO:87 denotes Apert syndrome
AB3 1011-1025 ORDO:87 denotes Apert syndrome
AB4 1350-1364 ORDO:87 denotes Apert syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 182-188 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T2 1173-1180 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissues
PD-UBERON-AE-B_T3 1161-1172 http://purl.obolibrary.org/obo/UBERON_0003104 denotes mesenchymal