PubMed:10234517 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10234517-3#68#77#geners371399726","span":{"begin":413,"end":422},"obj":"geners371399726"},{"id":"10234517-3#86#96#geners397507444","span":{"begin":431,"end":441},"obj":"geners397507444"},{"id":"10234517-3#58#61#diseaseC0027794","span":{"begin":403,"end":406},"obj":"diseaseC0027794"}],"relations":[{"id":"68#77#geners37139972658#61#diseaseC0027794","pred":"associated_with","subj":"10234517-3#68#77#geners371399726","obj":"10234517-3#58#61#diseaseC0027794"},{"id":"86#96#geners39750744458#61#diseaseC0027794","pred":"associated_with","subj":"10234517-3#86#96#geners397507444","obj":"10234517-3#58#61#diseaseC0027794"}],"text":"Molecular genetic analysis of human folate receptors in neural tube defects.\nNeural tube defects (NTDs) are the most common congenital malformations and are considered to have a multifactorial origin, having both genetic and environmental components. Periconceptional folate administration reduces the recurrence and occurrence risk by 70-100%. Recently we discovered the first genetic risk factors for NTDs: the 677 C--\u003eT and the 1298 A--\u003eC mutations in the methylenetetrahydrofolate reductase gene explaining at the most 35-50% of the protective effect of folate. In this study we further explored the genetic component of NTDs by analysing the coding region, including the intron-exon boundaries and signal sequences of the folate receptor genes by SSCP analysis. Among 39 patients with spina bifida (SB), 47 mothers with a child with SB, and 10 controls, no polymorphism was present in the folate receptor alpha (FR-alpha) gene or in the folate receptor beta (FR-beta) gene."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10234517-3#114#149#gene4524","span":{"begin":459,"end":494},"obj":"gene4524"},{"id":"10234517-3#58#61#diseaseC0027794","span":{"begin":403,"end":406},"obj":"diseaseC0027794"},{"id":"10234517-5#150#158#gene2348","span":{"begin":917,"end":925},"obj":"gene2348"},{"id":"10234517-5#197#204#gene2350","span":{"begin":964,"end":971},"obj":"gene2350"},{"id":"10234517-5#23#35#diseaseC0080178","span":{"begin":790,"end":802},"obj":"diseaseC0080178"}],"relations":[{"id":"114#149#gene452458#61#diseaseC0027794","pred":"associated_with","subj":"10234517-3#114#149#gene4524","obj":"10234517-3#58#61#diseaseC0027794"},{"id":"150#158#gene234823#35#diseaseC0080178","pred":"associated_with","subj":"10234517-5#150#158#gene2348","obj":"10234517-5#23#35#diseaseC0080178"},{"id":"197#204#gene235023#35#diseaseC0080178","pred":"associated_with","subj":"10234517-5#197#204#gene2350","obj":"10234517-5#23#35#diseaseC0080178"}],"text":"Molecular genetic analysis of human folate receptors in neural tube defects.\nNeural tube defects (NTDs) are the most common congenital malformations and are considered to have a multifactorial origin, having both genetic and environmental components. Periconceptional folate administration reduces the recurrence and occurrence risk by 70-100%. Recently we discovered the first genetic risk factors for NTDs: the 677 C--\u003eT and the 1298 A--\u003eC mutations in the methylenetetrahydrofolate reductase gene explaining at the most 35-50% of the protective effect of folate. In this study we further explored the genetic component of NTDs by analysing the coding region, including the intron-exon boundaries and signal sequences of the folate receptor genes by SSCP analysis. Among 39 patients with spina bifida (SB), 47 mothers with a child with SB, and 10 controls, no polymorphism was present in the folate receptor alpha (FR-alpha) gene or in the folate receptor beta (FR-beta) gene."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":894,"end":915},"obj":"gene:2348"},{"id":"T1","span":{"begin":790,"end":802},"obj":"disease:C0080178"},{"id":"T2","span":{"begin":917,"end":925},"obj":"gene:2348"},{"id":"T3","span":{"begin":790,"end":802},"obj":"disease:C0080178"},{"id":"T4","span":{"begin":917,"end":925},"obj":"gene:2348"},{"id":"T5","span":{"begin":804,"end":806},"obj":"disease:C0080178"},{"id":"T6","span":{"begin":942,"end":962},"obj":"gene:2350"},{"id":"T7","span":{"begin":790,"end":802},"obj":"disease:C0080178"},{"id":"T8","span":{"begin":964,"end":971},"obj":"gene:2350"},{"id":"T9","span":{"begin":790,"end":802},"obj":"disease:C0080178"},{"id":"T10","span":{"begin":964,"end":971},"obj":"gene:2350"},{"id":"T11","span":{"begin":804,"end":806},"obj":"disease:C0080178"}],"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":"Molecular genetic analysis of human folate receptors in neural tube defects.\nNeural tube defects (NTDs) are the most common congenital malformations and are considered to have a multifactorial origin, having both genetic and environmental components. Periconceptional folate administration reduces the recurrence and occurrence risk by 70-100%. Recently we discovered the first genetic risk factors for NTDs: the 677 C--\u003eT and the 1298 A--\u003eC mutations in the methylenetetrahydrofolate reductase gene explaining at the most 35-50% of the protective effect of folate. In this study we further explored the genetic component of NTDs by analysing the coding region, including the intron-exon boundaries and signal sequences of the folate receptor genes by SSCP analysis. Among 39 patients with spina bifida (SB), 47 mothers with a child with SB, and 10 controls, no polymorphism was present in the folate receptor alpha (FR-alpha) gene or in the folate receptor beta (FR-beta) gene."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":77,"end":96},"obj":"HP_0010301"},{"id":"T2","span":{"begin":790,"end":802},"obj":"HP_0002414"}],"text":"Molecular genetic analysis of human folate receptors in neural tube defects.\nNeural tube defects (NTDs) are the most common congenital malformations and are considered to have a multifactorial origin, having both genetic and environmental components. Periconceptional folate administration reduces the recurrence and occurrence risk by 70-100%. Recently we discovered the first genetic risk factors for NTDs: the 677 C--\u003eT and the 1298 A--\u003eC mutations in the methylenetetrahydrofolate reductase gene explaining at the most 35-50% of the protective effect of folate. In this study we further explored the genetic component of NTDs by analysing the coding region, including the intron-exon boundaries and signal sequences of the folate receptor genes by SSCP analysis. Among 39 patients with spina bifida (SB), 47 mothers with a child with SB, and 10 controls, no polymorphism was present in the folate receptor alpha (FR-alpha) gene or in the folate receptor beta (FR-beta) gene."}