PubMed:10519880 JSONTXT

{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":131,"end":161},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":198,"end":228},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":230,"end":233},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":1386,"end":1389},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0008948"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0008948"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0008948"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0012833"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":162},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":163,"end":174},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":175,"end":320},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":321,"end":497},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":498,"end":506},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":507,"end":677},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":678,"end":825},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":826,"end":834},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":835,"end":920},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":921,"end":1074},"obj":"Sentence"},{"id":"TextSentencer_T11","span":{"begin":1075,"end":1172},"obj":"Sentence"},{"id":"TextSentencer_T12","span":{"begin":1173,"end":1184},"obj":"Sentence"},{"id":"TextSentencer_T13","span":{"begin":1185,"end":1349},"obj":"Sentence"},{"id":"TextSentencer_T14","span":{"begin":1350,"end":1466},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":162},"obj":"Sentence"},{"id":"T2","span":{"begin":163,"end":174},"obj":"Sentence"},{"id":"T3","span":{"begin":175,"end":320},"obj":"Sentence"},{"id":"T4","span":{"begin":321,"end":497},"obj":"Sentence"},{"id":"T5","span":{"begin":498,"end":506},"obj":"Sentence"},{"id":"T6","span":{"begin":507,"end":677},"obj":"Sentence"},{"id":"T7","span":{"begin":678,"end":825},"obj":"Sentence"},{"id":"T8","span":{"begin":826,"end":834},"obj":"Sentence"},{"id":"T9","span":{"begin":835,"end":920},"obj":"Sentence"},{"id":"T10","span":{"begin":921,"end":1074},"obj":"Sentence"},{"id":"T11","span":{"begin":1075,"end":1172},"obj":"Sentence"},{"id":"T12","span":{"begin":1173,"end":1184},"obj":"Sentence"},{"id":"T13","span":{"begin":1185,"end":1349},"obj":"Sentence"},{"id":"T14","span":{"begin":1350,"end":1466},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":215,"end":228},"obj":"HP_0000991"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10519880-0#16#37#gene1593","span":{"begin":16,"end":37},"obj":"gene1593"},{"id":"10519880-0#44#49#gene1593","span":{"begin":44,"end":49},"obj":"gene1593"},{"id":"10519880-0#131#161#diseaseC0238052","span":{"begin":131,"end":161},"obj":"diseaseC0238052"}],"relations":[{"id":"16#37#gene1593131#161#diseaseC0238052","pred":"associated_with","subj":"10519880-0#16#37#gene1593","obj":"10519880-0#131#161#diseaseC0238052"},{"id":"44#49#gene1593131#161#diseaseC0238052","pred":"associated_with","subj":"10519880-0#44#49#gene1593","obj":"10519880-0#131#161#diseaseC0238052"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":448,"end":453},"obj":"http://purl.obolibrary.org/obo/UBERON_0000178"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":1369,"end":1374},"obj":"http://purl.obolibrary.org/obo/UBERON_0000178"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":215,"end":228},"obj":"HP:0000991"},{"id":"TI1","span":{"begin":148,"end":161},"obj":"HP:0000991"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":198,"end":228},"obj":"ORDO:909"},{"id":"AB2","span":{"begin":230,"end":233},"obj":"ORDO:909"},{"id":"TI1","span":{"begin":131,"end":161},"obj":"ORDO:909"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":448,"end":453},"obj":"http://purl.obolibrary.org/obo/UBERON_0000178"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":1369,"end":1374},"obj":"http://purl.obolibrary.org/obo/UBERON_0000178"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":131,"end":161},"obj":"SpecificDisease:D019294"},{"id":"T2","span":{"begin":198,"end":228},"obj":"SpecificDisease:D019294"},{"id":"T3","span":{"begin":230,"end":233},"obj":"SpecificDisease:D019294"},{"id":"T4","span":{"begin":1440,"end":1460},"obj":"SpecificDisease:OMIM:213700"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":44,"end":49},"obj":"gene:1593"},{"id":"T1","span":{"begin":131,"end":161},"obj":"disease:C0238052"},{"id":"T2","span":{"begin":16,"end":37},"obj":"gene:1593"},{"id":"T3","span":{"begin":131,"end":161},"obj":"disease:C0238052"},{"id":"T4","span":{"begin":313,"end":318},"obj":"gene:1593"},{"id":"T5","span":{"begin":230,"end":233},"obj":"disease:C0238052"},{"id":"T6","span":{"begin":313,"end":318},"obj":"gene:1593"},{"id":"T7","span":{"begin":198,"end":228},"obj":"disease:C0238052"},{"id":"T8","span":{"begin":285,"end":306},"obj":"gene:1593"},{"id":"T9","span":{"begin":230,"end":233},"obj":"disease:C0238052"},{"id":"T10","span":{"begin":285,"end":306},"obj":"gene:1593"},{"id":"T11","span":{"begin":198,"end":228},"obj":"disease:C0238052"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T4086","span":{"begin":131,"end":161},"obj":"SpecificDisease"},{"id":"T4087","span":{"begin":198,"end":228},"obj":"SpecificDisease"},{"id":"T4088","span":{"begin":230,"end":233},"obj":"SpecificDisease"},{"id":"T4089","span":{"begin":1440,"end":1460},"obj":"SpecificDisease"}],"attributes":[{"id":"A4086","pred":"database_id","subj":"T4086","obj":"D019294"},{"id":"A4087","pred":"database_id","subj":"T4087","obj":"D019294"},{"id":"A4088","pred":"database_id","subj":"T4088","obj":"D019294"},{"id":"A4089","pred":"database_id","subj":"T4089","obj":"OMIM:213700"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T4086","span":{"begin":131,"end":161},"obj":"SpecificDisease"},{"id":"T4087","span":{"begin":198,"end":228},"obj":"SpecificDisease"},{"id":"T4088","span":{"begin":230,"end":233},"obj":"SpecificDisease"},{"id":"T4089","span":{"begin":1440,"end":1460},"obj":"SpecificDisease"}],"attributes":[{"id":"A4086","pred":"database_id","subj":"T4086","obj":"D019294"},{"id":"A4087","pred":"database_id","subj":"T4087","obj":"D019294"},{"id":"A4088","pred":"database_id","subj":"T4088","obj":"D019294"},{"id":"A4089","pred":"database_id","subj":"T4089","obj":"OMIM:213700"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":131,"end":161},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":198,"end":228},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":230,"end":233},"obj":"SpecificDisease"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":131,"end":161},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":198,"end":228},"obj":"SpecificDisease"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":131,"end":161},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":198,"end":234},"obj":"SpecificDisease"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":131,"end":161},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":198,"end":234},"obj":"SpecificDisease"}],"text":"Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.\nOBJECTIVES: A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). 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.\nMETHODS: An alteration in CYP27 of the proband was searched for by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and subsequent sequencing. Samples of RNA were subjected to reverse transcription PCR (RT-PCR) and the product of the proband was amplified with nested primers and sequenced.\nRESULTS: A homozygous G to A transition at the 5' end of intron 7 was detected in the patient. In RT-PCR analysis, only a truncated transcript was detected in the patient, whereas both normal and truncated transcripts were detected in the siblings. The sequencing of the patient's cDNA fragment disclosed a direct conjuction of exon 6 and exon 8.\nCONCLUSION: 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. The application of blood leucocytes can be a simple technique on analysing a constructive abnormality of CYP27 mRNA."}