PubMed:10330430 JSONTXT

{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":47,"end":83},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":188,"end":224},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":226,"end":229},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":286,"end":289},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":718,"end":751},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":753,"end":756},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":854,"end":870},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":947,"end":950},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":1055,"end":1058},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0024573"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0024573"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0007750"},{"id":"A4","pred":"mondo_id","subj":"T3","obj":"0024573"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0007750"},{"id":"A6","pred":"mondo_id","subj":"T5","obj":"0024573"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0016333"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0016333"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0004994"},{"id":"A10","pred":"mondo_id","subj":"T10","obj":"0007750"},{"id":"A11","pred":"mondo_id","subj":"T10","obj":"0024573"},{"id":"A12","pred":"mondo_id","subj":"T12","obj":"0016333"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10330430-0#0#19#gene59","span":{"begin":0,"end":19},"obj":"gene59"},{"id":"10330430-0#0#19#gene70","span":{"begin":0,"end":19},"obj":"gene70"},{"id":"10330430-0#47#83#diseaseC0949658","span":{"begin":47,"end":83},"obj":"diseaseC0949658"},{"id":"10330430-5#0#4#gene70","span":{"begin":759,"end":763},"obj":"gene70"},{"id":"10330430-5#95#111#diseaseC0878544","span":{"begin":854,"end":870},"obj":"diseaseC0878544"},{"id":"10330430-6#20#24#gene70","span":{"begin":892,"end":896},"obj":"gene70"},{"id":"10330430-6#75#78#diseaseC0745103","span":{"begin":947,"end":950},"obj":"diseaseC0745103"},{"id":"10330430-6#183#186#diseaseC1449563","span":{"begin":1055,"end":1058},"obj":"diseaseC1449563"}],"relations":[{"id":"0#19#gene5947#83#diseaseC0949658","pred":"associated_with","subj":"10330430-0#0#19#gene59","obj":"10330430-0#47#83#diseaseC0949658"},{"id":"0#19#gene7047#83#diseaseC0949658","pred":"associated_with","subj":"10330430-0#0#19#gene70","obj":"10330430-0#47#83#diseaseC0949658"},{"id":"0#4#gene7095#111#diseaseC0878544","pred":"associated_with","subj":"10330430-5#0#4#gene70","obj":"10330430-5#95#111#diseaseC0878544"},{"id":"20#24#gene7075#78#diseaseC0745103","pred":"associated_with","subj":"10330430-6#20#24#gene70","obj":"10330430-6#75#78#diseaseC0745103"},{"id":"20#24#gene70183#186#diseaseC1449563","pred":"associated_with","subj":"10330430-6#20#24#gene70","obj":"10330430-6#183#186#diseaseC1449563"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":47,"end":83},"obj":"SpecificDisease:D024741"},{"id":"T2","span":{"begin":188,"end":224},"obj":"SpecificDisease:D024741"},{"id":"T3","span":{"begin":226,"end":229},"obj":"SpecificDisease:D024741"},{"id":"T4","span":{"begin":286,"end":289},"obj":"Modifier:D024741"},{"id":"T5","span":{"begin":718,"end":751},"obj":"SpecificDisease:C536277"},{"id":"T6","span":{"begin":753,"end":756},"obj":"SpecificDisease:C536277"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":592,"end":596},"obj":"gene:70"},{"id":"T1","span":{"begin":718,"end":751},"obj":"disease:C1449563"},{"id":"T2","span":{"begin":592,"end":596},"obj":"gene:70"},{"id":"T3","span":{"begin":753,"end":756},"obj":"disease:C1449563"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":197,"end":224},"obj":"HP_0001639"},{"id":"T2","span":{"begin":210,"end":224},"obj":"HP_0001638"},{"id":"T3","span":{"begin":729,"end":751},"obj":"HP_0001644"},{"id":"T4","span":{"begin":737,"end":751},"obj":"HP_0001638"},{"id":"T5","span":{"begin":854,"end":870},"obj":"HP_0001638"},{"id":"T6","span":{"begin":927,"end":938},"obj":"HP_0001371"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T3604","span":{"begin":47,"end":83},"obj":"SpecificDisease"},{"id":"T3605","span":{"begin":188,"end":224},"obj":"SpecificDisease"},{"id":"T3606","span":{"begin":226,"end":229},"obj":"SpecificDisease"},{"id":"T3607","span":{"begin":286,"end":289},"obj":"Modifier"},{"id":"T3608","span":{"begin":718,"end":751},"obj":"SpecificDisease"},{"id":"T3609","span":{"begin":753,"end":756},"obj":"SpecificDisease"}],"attributes":[{"id":"A3604","pred":"database_id","subj":"T3604","obj":"D024741"},{"id":"A3605","pred":"database_id","subj":"T3605","obj":"D024741"},{"id":"A3606","pred":"database_id","subj":"T3606","obj":"D024741"},{"id":"A3607","pred":"database_id","subj":"T3607","obj":"D024741"},{"id":"A3608","pred":"database_id","subj":"T3608","obj":"C536277"},{"id":"A3609","pred":"database_id","subj":"T3609","obj":"C536277"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T3604","span":{"begin":47,"end":83},"obj":"SpecificDisease"},{"id":"T3605","span":{"begin":188,"end":224},"obj":"SpecificDisease"},{"id":"T3606","span":{"begin":226,"end":229},"obj":"SpecificDisease"},{"id":"T3607","span":{"begin":286,"end":289},"obj":"Modifier"},{"id":"T3608","span":{"begin":718,"end":751},"obj":"SpecificDisease"},{"id":"T3609","span":{"begin":753,"end":756},"obj":"SpecificDisease"}],"attributes":[{"id":"A3604","pred":"database_id","subj":"T3604","obj":"D024741"},{"id":"A3605","pred":"database_id","subj":"T3605","obj":"D024741"},{"id":"A3606","pred":"database_id","subj":"T3606","obj":"D024741"},{"id":"A3607","pred":"database_id","subj":"T3607","obj":"D024741"},{"id":"A3608","pred":"database_id","subj":"T3608","obj":"C536277"},{"id":"A3609","pred":"database_id","subj":"T3609","obj":"C536277"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":47,"end":83},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":188,"end":224},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":286,"end":289},"obj":"Modifier"},{"id":"T4","span":{"begin":718,"end":751},"obj":"SpecificDisease"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":47,"end":83},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":188,"end":224},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":286,"end":289},"obj":"Modifier"},{"id":"T4","span":{"begin":718,"end":751},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":753,"end":756},"obj":"SpecificDisease"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":47,"end":83},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":188,"end":224},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":718,"end":751},"obj":"SpecificDisease"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":47,"end":83},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":188,"end":224},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":718,"end":751},"obj":"SpecificDisease"}],"text":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.\nWe identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC."}