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PubMed:10519880 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 131-161 DiseaseOrPhenotypicFeature denotes cerebrotendinous xanthomatosis 0008948
T2 198-228 DiseaseOrPhenotypicFeature denotes cerebrotendinous xanthomatosis 0008948
T3 230-233 DiseaseOrPhenotypicFeature denotes CTX 0008948
T4 1386-1389 DiseaseOrPhenotypicFeature denotes can 0012833

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-162 Sentence denotes Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.
TextSentencer_T2 163-174 Sentence denotes OBJECTIVES:
TextSentencer_T3 175-320 Sentence denotes A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27).
TextSentencer_T4 321-497 Sentence denotes The expression of CYP27 has been mostly explored using cultured fibroblasts, prompting the examination of the transcripts from blood leucocytes as a simple and rapid technique.
TextSentencer_T5 498-506 Sentence denotes METHODS:
TextSentencer_T6 507-677 Sentence denotes An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing.
TextSentencer_T7 678-825 Sentence denotes Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.
TextSentencer_T8 826-834 Sentence denotes RESULTS:
TextSentencer_T9 835-920 Sentence denotes A homozygous G to A transition at the 5' end of intron 7 was detected in the patient.
TextSentencer_T10 921-1074 Sentence denotes In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings.
TextSentencer_T11 1075-1172 Sentence denotes The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.
TextSentencer_T12 1173-1184 Sentence denotes CONCLUSION:
TextSentencer_T13 1185-1349 Sentence denotes The mutation at splice donor site and the truncation of mRNA were identical with those of a recently reported Italian patient, although different in symptomatology.
TextSentencer_T14 1350-1466 Sentence denotes The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA.
T1 0-162 Sentence denotes Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.
T2 163-174 Sentence denotes OBJECTIVES:
T3 175-320 Sentence denotes A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27).
T4 321-497 Sentence denotes The expression of CYP27 has been mostly explored using cultured fibroblasts, prompting the examination of the transcripts from blood leucocytes as a simple and rapid technique.
T5 498-506 Sentence denotes METHODS:
T6 507-677 Sentence denotes An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing.
T7 678-825 Sentence denotes Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.
T8 826-834 Sentence denotes RESULTS:
T9 835-920 Sentence denotes A homozygous G to A transition at the 5' end of intron 7 was detected in the patient.
T10 921-1074 Sentence denotes In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings.
T11 1075-1172 Sentence denotes The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.
T12 1173-1184 Sentence denotes CONCLUSION:
T13 1185-1349 Sentence denotes The mutation at splice donor site and the truncation of mRNA were identical with those of a recently reported Italian patient, although different in symptomatology.
T14 1350-1466 Sentence denotes The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 215-228 HP_0000991 denotes xanthomatosis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10519880-0#16#37#gene1593 16-37 gene1593 denotes sterol 27-hydroxylase
10519880-0#44#49#gene1593 44-49 gene1593 denotes CYP27
10519880-0#131#161#diseaseC0238052 131-161 diseaseC0238052 denotes cerebrotendinous xanthomatosis
16#37#gene1593131#161#diseaseC0238052 10519880-0#16#37#gene1593 10519880-0#131#161#diseaseC0238052 associated_with sterol 27-hydroxylase,cerebrotendinous xanthomatosis
44#49#gene1593131#161#diseaseC0238052 10519880-0#44#49#gene1593 10519880-0#131#161#diseaseC0238052 associated_with CYP27,cerebrotendinous xanthomatosis

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 448-453 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 1369-1374 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 215-228 HP:0000991 denotes xanthomatosis
TI1 148-161 HP:0000991 denotes xanthomatosis

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 198-228 ORDO:909 denotes cerebrotendinous xanthomatosis
AB2 230-233 ORDO:909 denotes CTX
TI1 131-161 ORDO:909 denotes cerebrotendinous xanthomatosis

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 448-453 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 1369-1374 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 131-161 SpecificDisease:D019294 denotes cerebrotendinous xanthomatosis
T2 198-228 SpecificDisease:D019294 denotes cerebrotendinous xanthomatosis
T3 230-233 SpecificDisease:D019294 denotes CTX
T4 1440-1460 SpecificDisease:OMIM:213700 denotes abnormality of CYP27

DisGeNET

Id Subject Object Predicate Lexical cue
T0 44-49 gene:1593 denotes CYP27
T1 131-161 disease:C0238052 denotes cerebrotendinous xanthomatosis
T2 16-37 gene:1593 denotes sterol 27-hydroxylase
T3 131-161 disease:C0238052 denotes cerebrotendinous xanthomatosis
T4 313-318 gene:1593 denotes CYP27
T5 230-233 disease:C0238052 denotes CTX
T6 313-318 gene:1593 denotes CYP27
T7 198-228 disease:C0238052 denotes cerebrotendinous xanthomatosis
T8 285-306 gene:1593 denotes sterol 27-hydroxylase
T9 230-233 disease:C0238052 denotes CTX
T10 285-306 gene:1593 denotes sterol 27-hydroxylase
T11 198-228 disease:C0238052 denotes cerebrotendinous xanthomatosis
R1 T0 T1 associated_with CYP27,cerebrotendinous xanthomatosis
R2 T2 T3 associated_with sterol 27-hydroxylase,cerebrotendinous xanthomatosis
R3 T4 T5 associated_with CYP27,CTX
R4 T6 T7 associated_with CYP27,cerebrotendinous xanthomatosis
R5 T8 T9 associated_with sterol 27-hydroxylase,CTX
R6 T10 T11 associated_with sterol 27-hydroxylase,cerebrotendinous xanthomatosis

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T4086 131-161 SpecificDisease denotes cerebrotendinous xanthomatosis D019294
T4087 198-228 SpecificDisease denotes cerebrotendinous xanthomatosis D019294
T4088 230-233 SpecificDisease denotes CTX D019294
T4089 1440-1460 SpecificDisease denotes abnormality of CYP27 OMIM:213700

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T4086 131-161 SpecificDisease denotes cerebrotendinous xanthomatosis D019294
T4087 198-228 SpecificDisease denotes cerebrotendinous xanthomatosis D019294
T4088 230-233 SpecificDisease denotes CTX D019294
T4089 1440-1460 SpecificDisease denotes abnormality of CYP27 OMIM:213700

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 131-161 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 198-228 SpecificDisease denotes cerebrotendinous xanthomatosis
T3 230-233 SpecificDisease denotes CTX

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 131-161 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 198-228 SpecificDisease denotes cerebrotendinous xanthomatosis

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 131-161 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 198-234 SpecificDisease denotes cerebrotendinous xanthomatosis (CTX)

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 131-161 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 198-234 SpecificDisease denotes cerebrotendinous xanthomatosis (CTX)