PubMed:12002902 JSON TXT

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sentences

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":121},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":122,"end":210},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":211,"end":343},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":344,"end":413},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":414,"end":499},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":500,"end":611},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":612,"end":670},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":671,"end":727},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":728,"end":823},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":824,"end":941},"obj":"Sentence"},{"id":"TextSentencer_T11","span":{"begin":942,"end":1085},"obj":"Sentence"},{"id":"TextSentencer_T12","span":{"begin":1086,"end":1144},"obj":"Sentence"},{"id":"TextSentencer_T13","span":{"begin":1145,"end":1282},"obj":"Sentence"},{"id":"TextSentencer_T14","span":{"begin":1283,"end":1386},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":121},"obj":"Sentence"},{"id":"T2","span":{"begin":122,"end":210},"obj":"Sentence"},{"id":"T3","span":{"begin":211,"end":343},"obj":"Sentence"},{"id":"T4","span":{"begin":344,"end":413},"obj":"Sentence"},{"id":"T5","span":{"begin":414,"end":499},"obj":"Sentence"},{"id":"T6","span":{"begin":500,"end":611},"obj":"Sentence"},{"id":"T7","span":{"begin":612,"end":670},"obj":"Sentence"},{"id":"T8","span":{"begin":671,"end":727},"obj":"Sentence"},{"id":"T9","span":{"begin":728,"end":823},"obj":"Sentence"},{"id":"T10","span":{"begin":824,"end":941},"obj":"Sentence"},{"id":"T11","span":{"begin":942,"end":1085},"obj":"Sentence"},{"id":"T12","span":{"begin":1086,"end":1144},"obj":"Sentence"},{"id":"T13","span":{"begin":1145,"end":1282},"obj":"Sentence"},{"id":"T14","span":{"begin":1283,"end":1386},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Screening for mutations in exons encoding the ligand-binding domain of the LDL receptor gene using PCR-CFLP and PCR-SSCP.\nPrimary hypercholesterolemia includes both monogenic disorders and polygenic conditions. Two well defined monogenic disorders are familial hypercholesterolemia (FH) and familial defective apolipoprotein (apo) B-100 (FDB). Both disorders convey high risk of premature coronary artery disease. FH and FDB are caused by mutations in LDL receptor and apo B-100 genes, respectively. In the present study, mutations in both genes in Thai subjects with primary hypercholesterolemia were screened. For apo B-100 gene, a common mutation R3500Q was screened. This mutation was not observed in the patients (n = 45). For LDL receptor gene, mutations in the exons encoding the ligand-binding domain were screened. By PCR-CFLP analysis, 18 abnormal CFLP patterns in exon 4, the hot spot for mutations, were found in patients (n=45). One of the DNA samples with abnormal CFLP patterns was previously identified and reported as a possible disease-causing mutation, namely D151Y. For the other exons, the screening technique was PCR-SSCP. Abnormal SSCP patterns in DNA samples from patients (n=20) were found as follows, two in exon 3, one in exon 5 and another one in exon 6. Further characterization by DNA sequencing and family studies for these abnormal patterns are underway."}

PubmedHPO

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":130,"end":150},"obj":"HP_0003124"},{"id":"T2","span":{"begin":261,"end":281},"obj":"HP_0003124"},{"id":"T3","span":{"begin":379,"end":412},"obj":"HP_0005181"},{"id":"T4","span":{"begin":389,"end":412},"obj":"HP_0001677"},{"id":"T5","span":{"begin":576,"end":596},"obj":"HP_0003124"}],"text":"Screening for mutations in exons encoding the ligand-binding domain of the LDL receptor gene using PCR-CFLP and PCR-SSCP.\nPrimary hypercholesterolemia includes both monogenic disorders and polygenic conditions. Two well defined monogenic disorders are familial hypercholesterolemia (FH) and familial defective apolipoprotein (apo) B-100 (FDB). Both disorders convey high risk of premature coronary artery disease. FH and FDB are caused by mutations in LDL receptor and apo B-100 genes, respectively. In the present study, mutations in both genes in Thai subjects with primary hypercholesterolemia were screened. For apo B-100 gene, a common mutation R3500Q was screened. This mutation was not observed in the patients (n = 45). For LDL receptor gene, mutations in the exons encoding the ligand-binding domain were screened. By PCR-CFLP analysis, 18 abnormal CFLP patterns in exon 4, the hot spot for mutations, were found in patients (n=45). One of the DNA samples with abnormal CFLP patterns was previously identified and reported as a possible disease-causing mutation, namely D151Y. For the other exons, the screening technique was PCR-SSCP. Abnormal SSCP patterns in DNA samples from patients (n=20) were found as follows, two in exon 3, one in exon 5 and another one in exon 6. Further characterization by DNA sequencing and family studies for these abnormal patterns are underway."}

DisGeNET5_gene_disease

DisGeNet-2017-sample

{"project":"DisGeNet-2017-sample","denotations":[{"id":"T1415","span":{"begin":326,"end":336},"obj":"gene:338"},{"id":"T1416","span":{"begin":252,"end":281},"obj":"disease:C0745103"},{"id":"T1417","span":{"begin":283,"end":285},"obj":"disease:C0745103"},{"id":"T1418","span":{"begin":338,"end":341},"obj":"gene:338"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T1415","obj":"T1416"},{"id":"R2","pred":"associated_with","subj":"T1415","obj":"T1416"},{"id":"R3","pred":"associated_with","subj":"T1415","obj":"T1417"},{"id":"R4","pred":"associated_with","subj":"T1415","obj":"T1417"},{"id":"R5","pred":"associated_with","subj":"T1418","obj":"T1416"},{"id":"R6","pred":"associated_with","subj":"T1418","obj":"T1416"},{"id":"R7","pred":"associated_with","subj":"T1418","obj":"T1417"},{"id":"R8","pred":"associated_with","subj":"T1418","obj":"T1417"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Screening for mutations in exons encoding the ligand-binding domain of the LDL receptor gene using PCR-CFLP and PCR-SSCP.\nPrimary hypercholesterolemia includes both monogenic disorders and polygenic conditions. Two well defined monogenic disorders are familial hypercholesterolemia (FH) and familial defective apolipoprotein (apo) B-100 (FDB). Both disorders convey high risk of premature coronary artery disease. FH and FDB are caused by mutations in LDL receptor and apo B-100 genes, respectively. In the present study, mutations in both genes in Thai subjects with primary hypercholesterolemia were screened. For apo B-100 gene, a common mutation R3500Q was screened. This mutation was not observed in the patients (n = 45). For LDL receptor gene, mutations in the exons encoding the ligand-binding domain were screened. By PCR-CFLP analysis, 18 abnormal CFLP patterns in exon 4, the hot spot for mutations, were found in patients (n=45). One of the DNA samples with abnormal CFLP patterns was previously identified and reported as a possible disease-causing mutation, namely D151Y. For the other exons, the screening technique was PCR-SSCP. Abnormal SSCP patterns in DNA samples from patients (n=20) were found as follows, two in exon 3, one in exon 5 and another one in exon 6. Further characterization by DNA sequencing and family studies for these abnormal patterns are underway."}

UBERON-AE

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":389,"end":404},"obj":"http://purl.obolibrary.org/obo/UBERON_0001621"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":398,"end":404},"obj":"http://purl.obolibrary.org/obo/UBERON_0001637"}],"text":"Screening for mutations in exons encoding the ligand-binding domain of the LDL receptor gene using PCR-CFLP and PCR-SSCP.\nPrimary hypercholesterolemia includes both monogenic disorders and polygenic conditions. Two well defined monogenic disorders are familial hypercholesterolemia (FH) and familial defective apolipoprotein (apo) B-100 (FDB). Both disorders convey high risk of premature coronary artery disease. FH and FDB are caused by mutations in LDL receptor and apo B-100 genes, respectively. In the present study, mutations in both genes in Thai subjects with primary hypercholesterolemia were screened. For apo B-100 gene, a common mutation R3500Q was screened. This mutation was not observed in the patients (n = 45). For LDL receptor gene, mutations in the exons encoding the ligand-binding domain were screened. By PCR-CFLP analysis, 18 abnormal CFLP patterns in exon 4, the hot spot for mutations, were found in patients (n=45). One of the DNA samples with abnormal CFLP patterns was previously identified and reported as a possible disease-causing mutation, namely D151Y. For the other exons, the screening technique was PCR-SSCP. Abnormal SSCP patterns in DNA samples from patients (n=20) were found as follows, two in exon 3, one in exon 5 and another one in exon 6. Further characterization by DNA sequencing and family studies for these abnormal patterns are underway."}

performance-test

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":389,"end":404},"obj":"http://purl.obolibrary.org/obo/UBERON_0001621"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":398,"end":404},"obj":"http://purl.obolibrary.org/obo/UBERON_0001637"}],"text":"Screening for mutations in exons encoding the ligand-binding domain of the LDL receptor gene using PCR-CFLP and PCR-SSCP.\nPrimary hypercholesterolemia includes both monogenic disorders and polygenic conditions. Two well defined monogenic disorders are familial hypercholesterolemia (FH) and familial defective apolipoprotein (apo) B-100 (FDB). Both disorders convey high risk of premature coronary artery disease. FH and FDB are caused by mutations in LDL receptor and apo B-100 genes, respectively. In the present study, mutations in both genes in Thai subjects with primary hypercholesterolemia were screened. For apo B-100 gene, a common mutation R3500Q was screened. This mutation was not observed in the patients (n = 45). For LDL receptor gene, mutations in the exons encoding the ligand-binding domain were screened. By PCR-CFLP analysis, 18 abnormal CFLP patterns in exon 4, the hot spot for mutations, were found in patients (n=45). One of the DNA samples with abnormal CFLP patterns was previously identified and reported as a possible disease-causing mutation, namely D151Y. For the other exons, the screening technique was PCR-SSCP. Abnormal SSCP patterns in DNA samples from patients (n=20) were found as follows, two in exon 3, one in exon 5 and another one in exon 6. Further characterization by DNA sequencing and family studies for these abnormal patterns are underway."}

DisGeNET

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":326,"end":336},"obj":"gene:338"},{"id":"T1","span":{"begin":252,"end":281},"obj":"disease:C0020445"},{"id":"T2","span":{"begin":326,"end":336},"obj":"gene:338"},{"id":"T3","span":{"begin":283,"end":285},"obj":"disease:C0020445"},{"id":"T4","span":{"begin":338,"end":341},"obj":"gene:338"},{"id":"T5","span":{"begin":252,"end":281},"obj":"disease:C0020445"},{"id":"T6","span":{"begin":338,"end":341},"obj":"gene:338"},{"id":"T7","span":{"begin":283,"end":285},"obj":"disease:C0020445"}],"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"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Screening for mutations in exons encoding the ligand-binding domain of the LDL receptor gene using PCR-CFLP and PCR-SSCP.\nPrimary hypercholesterolemia includes both monogenic disorders and polygenic conditions. Two well defined monogenic disorders are familial hypercholesterolemia (FH) and familial defective apolipoprotein (apo) B-100 (FDB). Both disorders convey high risk of premature coronary artery disease. FH and FDB are caused by mutations in LDL receptor and apo B-100 genes, respectively. In the present study, mutations in both genes in Thai subjects with primary hypercholesterolemia were screened. For apo B-100 gene, a common mutation R3500Q was screened. This mutation was not observed in the patients (n = 45). For LDL receptor gene, mutations in the exons encoding the ligand-binding domain were screened. By PCR-CFLP analysis, 18 abnormal CFLP patterns in exon 4, the hot spot for mutations, were found in patients (n=45). One of the DNA samples with abnormal CFLP patterns was previously identified and reported as a possible disease-causing mutation, namely D151Y. For the other exons, the screening technique was PCR-SSCP. Abnormal SSCP patterns in DNA samples from patients (n=20) were found as follows, two in exon 3, one in exon 5 and another one in exon 6. Further characterization by DNA sequencing and family studies for these abnormal patterns are underway."}