| http://purl.uniprot.org/citations/14963485 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14963485 | http://www.w3.org/2000/01/rdf-schema#comment | "Many genetic diseases are caused by mutations in cis-acting splicing signals, but few are triggered by defective trans-acting splicing factors. Here we report that tissue-specific ablation of the splicing factor SC35 in the heart causes dilated cardiomyopathy (DCM). Although SC35 was deleted early in cardiogenesis by using the MLC-2v-Cre transgenic mouse, heart development appeared largely unaffected, with the DCM phenotype developing 3-5 weeks after birth and the mutant animals having a normal life span. This nonlethal phenotype allowed the identification of downregulated genes by microarray, one of which was the cardiac-specific ryanodine receptor 2. We showed that downregulation of this critical Ca2+ release channel preceded disease symptoms and that the mutant cardiomyocytes exhibited frequency-dependent excitation-contraction coupling defects. The implication of SC35 in heart disease agrees with a recently documented link of SC35 expression to heart failure and interference of splicing regulation during infection by myocarditis-causing viruses. These studies raise a new paradigm for the etiology of certain human heart diseases of genetic or environmental origin that may be triggered by dysfunction in RNA processing."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.org/dc/terms/identifier | "doi:10.1038/sj.emboj.7600054"xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Chen J."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Cheng H."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Xu X."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Yang D."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Ye Z."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Ross J."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Ding J.H."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Fu X.D."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Yeakley J.M."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Dalton N.D."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Chu P.H."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/author | "Xiao R.P."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/name | "EMBO J"xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/pages | "885-896"xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/title | "Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart."xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://purl.uniprot.org/core/volume | "23"xsd:string |
| http://purl.uniprot.org/citations/14963485 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/14963485 |
| http://purl.uniprot.org/citations/14963485 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/14963485 |
| http://purl.uniprot.org/uniprot/#_A0A0G2JE15-mappedCitation-14963485 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/14963485 |
| http://purl.uniprot.org/uniprot/#_A0A087WQP1-mappedCitation-14963485 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/14963485 |
| http://purl.uniprot.org/uniprot/#_A0A087WRX3-mappedCitation-14963485 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/14963485 |