| http://purl.uniprot.org/citations/18572189 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18572189 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18572189 | http://www.w3.org/2000/01/rdf-schema#comment | "Hypertrophic Cardiomyopathy (HCM) is a common primary cardiac disorder defined by a hypertrophied left ventricle, is one of the main causes of sudden death in young athletes, and has been associated with mutations in most sarcomeric proteins (tropomyosin, troponin T and I, and actin, etc.). Many of these mutations appear to affect the functional properties of cardiac troponin C (cTnC), i.e., by increasing the Ca(2+)-sensitivity of contraction, a hallmark of HCM, yet surprisingly, prior to this report, cTnC had not been classified as a HCM-susceptibility gene. In this study, we show that mutations occurring in the human cTnC (HcTnC) gene (TNNC1) have the same prevalence (~0.4%) as well established HCM-susceptibility genes that encode other sarcomeric proteins. Comprehensive open reading frame/splice site mutation analysis of TNNC1 performed on 1025 unrelated HCM patients enrolled over the last 10 years revealed novel missense mutations in TNNC1: A8V, C84Y, E134D, and D145E. Functional studies with these recombinant HcTnC HCM mutations showed increased Ca(2+) sensitivity of force development (A8V, C84Y and D145E) and force recovery (A8V and D145E). These results are consistent with the HCM functional phenotypes seen with other sarcomeric-HCM mutations (E134D showed no changes in these parameters). This is the largest cohort analysis of TNNC1 in HCM that details the discovery of at least three novel HCM-associated mutations and more strongly links TNNC1 to HCM along with functional evidence that supports a central role for its involvement in the disease. This study may help to further define TNNC1 as an HCM-susceptibility gene, a classification that has already been established for the other members of the troponin complex."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.yjmcc.2008.05.003"xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.yjmcc.2008.05.003"xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Ackerman M.J."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Ackerman M.J."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Marquardt M.L."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Marquardt M.L."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Tester D.J."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Tester D.J."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Bos J.M."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Bos J.M."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Landstrom A.P."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Landstrom A.P."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Ommen S.R."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Ommen S.R."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Potter J.D."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Potter J.D."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Parvatiyar M.S."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Parvatiyar M.S."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Pinto J.R."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/author | "Pinto J.R."xsd:string |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18572189 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |