| http://purl.uniprot.org/citations/14672715 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14672715 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14672715 | http://www.w3.org/2000/01/rdf-schema#comment | "Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are caused by mutations in 14 and 15 different disease genes, respectively, in a part of the patients and the disease genes for cardiomyopathy overlap in part with that for limb-girdle muscular dystrophy (LGMD). In this study, we examined an LGMD gene encoding caveolin-3 (CAV3) for mutation in the patients with HCM or DCM. A Thr63Ser mutation was identified in a sibling case of HCM. Because the mutation was found at the residue that is involved in the LGMD-causing mutations, we investigate the functional change due to the Thr63Ser mutation as compared with the LGMD mutations by examining the distribution of GFP-tagged CAV3 proteins. It was observed that the Thr63Ser mutation reduced the cell surface expression of caveolin-3, albeit the change was mild as compared with the LGMD mutations. These observations suggest that HCM is a clinical spectrum of CAV3 mutations."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bbrc.2003.11.101"xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bbrc.2003.11.101"xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Hayashi T."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Hayashi T."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Hori H."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Hori H."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Takahashi M."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Takahashi M."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Ueda K."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Ueda K."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Oka N."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Oka N."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Kimura A."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Kimura A."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Shibata H."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Shibata H."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Koga Y."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Koga Y."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Imaizumi T."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Imaizumi T."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Yasunami M."xsd:string |
| http://purl.uniprot.org/citations/14672715 | http://purl.uniprot.org/core/author | "Yasunami M."xsd:string |