LI X,LUO R,GU H,et al.Cardiac troponin T(TNNT2)mutations in chinese dilated cardiomyopathy patients[J].Bio Med Res Int,2014:907360.Cardiac Troponin T ( TNNT2 ) Mutations in Chinese Dilated Cardiomyopathy Patients[J] . Xiaoping Li,Rong Luo,Haiyong Gu,Yun Deng,Xiaolei Xu,Xiushan Wu,Wei ...
[56]. Overexpression of exon7-excluded cTnT isoform in thetransgenic mouseheart leads to impaired systolic function[57]. Re-expression of the embryonic exon5 in adult heart was detected in dilated cardiomyopathy dogs[56]. The heterogeneity of TnT isoforms or co-presence of different TnT isoforms...
filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in TNNT2 gene are related with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. TNNT2 mutation takes part in hypertrophic cardiomyopathy. ...
Clinical and Functional Characterization of TNNT2 Mutations Identified in Patients With Dilated Cardiomyopathy A key issue for cardiovascular genetic medicine is ascertaining if a putative mutation indeed causes dilated cardiomyopathy (DCM). This is critically impor... R.,E.,Hershberger,... - 《Circula...
We carried out whole exome sequencing in combination with cardiomyopathy-related gene-filtering on two affected family members to identify the possible causative mutation in a consanguineous Iranian family with DCM. Two novel variants in cardiomyopathy-related genes were identified: c.247A>C; p.N83H...
Introduction: Dilated cardiomyopathy (DCM) is a common cardiomyopathy characterized by ventricular dilatation and systolic dysfunction. The TNNT2-R141W mutation is known to cause DCM in both humans and mice and is associated with Ca2+ desensitization and reduced contractility. However, there are no ...
nonsense mutationTNNT2whole exome sequencing.Rationale: Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease and a common cause of sudden cardiac death, heart failure, atrial fibrillation and stroke. In families affected by HCM, genotyping is useful for identifying susceptible relatives. ...
TNNT2 is known to be associated with Cardiomyopathy but has not been previously associated with EA and WPW. Case: In this report, we present findings from a lebanese family with EA, comprising 2 affected individuals. Whole exome sequencing in the affected individuals identified a pathogenic ...
MUTATION SCREENING OF SARCOMERE GENES MYH7, MYBPC3, LDB3, AND TNNT2 IN A LARGE COHORT OF DILATED CARDIOMYOPATHY FAMILIESdoi:10.1016/s0735-1097(10)60294-xLuisa MestroniThe American College of Cardiology FoundationMarco MerloThe American College of Cardiology Foundation...
Van Acker H, De Sutter J, Vandekerckhove K, de Ravel TJ, Verhaaren H, De Backer J (2010) Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects. Int J Cardiol 144(2):307-309...