Id |
Subject |
Object |
Predicate |
Lexical cue |
TextSentencer_T1 |
0-63 |
Sentence |
denotes |
Multiple trichoepitheliomas--a novel mutation in the CYLD gene. |
T1 |
0-63 |
Sentence |
denotes |
Multiple trichoepitheliomas--a novel mutation in the CYLD gene. |
TextSentencer_T2 |
64-75 |
Sentence |
denotes |
BACKGROUND: |
T2 |
64-75 |
Sentence |
denotes |
BACKGROUND: |
TextSentencer_T3 |
76-148 |
Sentence |
denotes |
Trichoepitheliomas are benign neoplasms with follicular differentiation. |
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. |
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. |
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. |
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: |
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. |
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: |
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. |
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: |
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). |
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: |
T13 |
1136-1148 |
Sentence |
denotes |
CONCLUSIONS: |
TextSentencer_T14 |
1149-1225 |
Sentence |
denotes |
The predominating tumours define the classification of these three entities. |
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. |
T15 |
1226-1372 |
Sentence |
denotes |
Nevertheless, studies suggest that they can simply represent phenotypic variations of the same disease spectrum, sharing common genetic mutations. |