| http://purl.uniprot.org/citations/10330430 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10330430 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10330430 | http://www.w3.org/2000/01/rdf-schema#comment | "We 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."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci6460"xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci6460"xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Bross P."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Bross P."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Gregersen N."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Gregersen N."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Kruse T.A."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Kruse T.A."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Baandrup U."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Baandrup U."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Boerglum A.D."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Boerglum A.D."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Egeblad H."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Egeblad H."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Hansen P.S."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Hansen P.S."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Klausen I.C."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Klausen I.C."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Mogensen J."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Mogensen J."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Pedersen A.K."xsd:string |
| http://purl.uniprot.org/citations/10330430 | http://purl.uniprot.org/core/author | "Pedersen A.K."xsd:string |