RESULTS: A total of 6 TNNT2 mutations were identified in 99 patients, including a G321T missense mutation (Leu84Phe) and 5 novel intronic mutations. Alleles of two novel SNPs (c.192 + 353 C>A, OR = 0.095, 95% CI: 0.013-0.714, P = 0.022; c.192 + 463 G>A, OR = 0.090, 95%...
View chapterExplore book TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure–function relationships BinWei,J.-P.Jin, inGene, 2016 6.3TNNT3 Fewer pathogenic mutations of fast skeletal muscle TnT gene (TNNT3) have been reported. ATNNT3mutation (p.R63C) was found in a Chinese...
These strains carry a R158W mutation of Tnnt2 gene. *使用本品系发表的文献需注明: Tnnt2-R158W mice (Cat. NO. NM-KI-233285) were purchased from Shanghai Model Organisms Center, Inc.. 相关品系 Tnnt2-dCreERT2 品系名:C57BL/6Smoc-Tnnt2em1(rox-CreERT2-wpre-polyA-rox-tdTomato-wpre-po...
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,... - 《Circulation Cardiovascular Genetics》 被引量: 129发表: 2009年 The role of a common TNNT2 polymorphism in card...
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. ...
Here we report two individuals, a mother and her daughter, both heterozygous carriers of the same HCM-causing mutation in cardiac Troponin T (TNNT2). Despite sharing an identical pathogenic variant, the two individuals had very different manifestations of the disease. While one patient presented ...
P = 0.019) and SNP rs3729843 (OR = 1.889, 95% CI: 1.252-2.852; P = 0.002) were significantly correlated with DCM.These results suggest that the missense mutation (Leu84Phe) and two novel SNPs (c.192 + 353 C>A, c.192 + 463 G>A) in TNNT2 gene might be associated with DCM in...
Auergewhnliche Penetranz und Expressivitt von TNNT2-Mutationen in pdiatrischem Kollektivdoi:10.1055/s-0043-1761853Krueck, S.Hitz, M. P.Dombrowsky, G.Voges, I.Jux, C.Rupp, S.The Thoracic and Cardiovascular Surgeon
In this report, we therefore confirm the potential role of TNNT2 gene mutation in the genetic basis of familial EA with WPW.doi:10.1161/circ.150.suppl_1.4134619Montaser Atasi, MDRazan Dankar, MDSalim Barakat, MDJad Wehbi, MDMarwan Refaat, MD...
Methods: Two human iPSC lines were derived from pediatric DCM patient samples, with the TNNT2-R141W mutation (R141W-iPSC), and a R141W-iPSC derived TNNT2 overexpression line (TNNT2-OE iPSC) for comparison. The Ca2+ handling and sarcomere structures of the differentiated hiPSC-CMs were ...