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PubMed:19929939 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 679-683 gene:1540 denotes CYLD
T1 634-652 disease:C0349658 denotes trichoepitheliomas
R1 T0 T1 associated_with CYLD,trichoepitheliomas

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
19929939-4#48#52#gene1540 399-403 gene1540 denotes CYLD
19929939-4#75#99#diseaseC1305968 426-450 diseaseC1305968 denotes familial cylindromatosis
19929939-4#114#138#diseaseC1857941 465-489 diseaseC1857941 denotes Brooke-Spiegler syndrome
19929939-5#123#127#gene1540 679-683 gene1540 denotes CYLD
19929939-5#78#96#diseaseC0349658 634-652 diseaseC0349658 denotes trichoepitheliomas
48#52#gene154075#99#diseaseC1305968 19929939-4#48#52#gene1540 19929939-4#75#99#diseaseC1305968 associated_with CYLD,familial cylindromatosis
48#52#gene1540114#138#diseaseC1857941 19929939-4#48#52#gene1540 19929939-4#114#138#diseaseC1857941 associated_with CYLD,Brooke-Spiegler syndrome
123#127#gene154078#96#diseaseC0349658 19929939-5#123#127#gene1540 19929939-5#78#96#diseaseC0349658 associated_with CYLD,trichoepitheliomas

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 779-784 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 106-115 HP:0002664 denotes neoplasms

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 465-489 ORDO:79493 denotes Brooke-Spiegler syndrome

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-63 Sentence denotes Multiple trichoepitheliomas--a novel mutation in the CYLD gene.
TextSentencer_T2 64-75 Sentence denotes BACKGROUND:
TextSentencer_T3 76-148 Sentence denotes Trichoepitheliomas are benign neoplasms with follicular differentiation.
TextSentencer_T4 149-210 Sentence denotes They may present as a solitary lesion or as multiple lesions.
TextSentencer_T5 211-350 Sentence denotes Multiple trichoepitheliomas are inherited in an autosomal dominant pattern within families, with both variable penetrance and expressivity.
TextSentencer_T6 351-544 Sentence denotes Recent investigations support that mutations in CYLD, the gene affected in familial cylindromatosis as well as in Brooke-Spiegler syndrome, are also responsible for multiple trichoepitheliomas.
TextSentencer_T7 545-555 Sentence denotes OBJECTIVE:
TextSentencer_T8 556-706 Sentence denotes The authors report the case of a 9-year-old African girl with multiple facial trichoepitheliomas in whom a mutation in the CYLD gene was hypothesised.
TextSentencer_T9 707-729 Sentence denotes MATERIALS AND METHODS:
TextSentencer_T10 730-877 Sentence denotes After genomic DNA extraction from the peripheral blood, a molecular analysis of the CYLD gene was performed by PCR, DHPLC and automated sequencing.
TextSentencer_T11 878-886 Sentence denotes RESULTS:
TextSentencer_T12 887-1135 Sentence denotes A novel heterozygous mutation in exon 18 of the CYLD gene (c.2449delT) was identified, with a deletion of one nucleotide resulting in a premature translational termination codon at amino acid position 831 on the affected allele (p.Cys817Valfs X15).
TextSentencer_T13 1136-1148 Sentence denotes CONCLUSIONS:
TextSentencer_T14 1149-1225 Sentence denotes The predominating tumours define the classification of these three entities.
TextSentencer_T15 1226-1372 Sentence denotes Nevertheless, studies suggest that they can simply represent phenotypic variations of the same disease spectrum, sharing common genetic mutations.
T1 0-63 Sentence denotes Multiple trichoepitheliomas--a novel mutation in the CYLD gene.
T2 64-75 Sentence denotes BACKGROUND:
T3 76-148 Sentence denotes Trichoepitheliomas are benign neoplasms with follicular differentiation.
T4 149-210 Sentence denotes They may present as a solitary lesion or as multiple lesions.
T5 211-350 Sentence denotes Multiple trichoepitheliomas are inherited in an autosomal dominant pattern within families, with both variable penetrance and expressivity.
T6 351-544 Sentence denotes Recent investigations support that mutations in CYLD, the gene affected in familial cylindromatosis as well as in Brooke-Spiegler syndrome, are also responsible for multiple trichoepitheliomas.
T7 545-555 Sentence denotes OBJECTIVE:
T8 556-706 Sentence denotes The authors report the case of a 9-year-old African girl with multiple facial trichoepitheliomas in whom a mutation in the CYLD gene was hypothesised.
T9 707-729 Sentence denotes MATERIALS AND METHODS:
T10 730-877 Sentence denotes After genomic DNA extraction from the peripheral blood, a molecular analysis of the CYLD gene was performed by PCR, DHPLC and automated sequencing.
T11 878-886 Sentence denotes RESULTS:
T12 887-1135 Sentence denotes A novel heterozygous mutation in exon 18 of the CYLD gene (c.2449delT) was identified, with a deletion of one nucleotide resulting in a premature translational termination codon at amino acid position 831 on the affected allele (p.Cys817Valfs X15).
T13 1136-1148 Sentence denotes CONCLUSIONS:
T14 1149-1225 Sentence denotes The predominating tumours define the classification of these three entities.
T15 1226-1372 Sentence denotes Nevertheless, studies suggest that they can simply represent phenotypic variations of the same disease spectrum, sharing common genetic mutations.

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 779-784 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 946-956 DNAMutation:c|DEL|2449|T denotes c.2449delT
T2 1116-1133 ProteinMutation:p|FS|C|817|V|15 denotes p.Cys817Valfs X15