Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The female carriers of TNNT2 and BAG3 variants had more advanced DCM.
|
28669108 |
2017 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We generated a gene-targeted knock-in murine model of the autosomal dominant Arg141Trp (R141W) mutation in Tnnt2, which was first described in a human family with DCM.
|
27936050 |
2016 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We further discovered increased nuclear localization of mutant TNNT2 and epigenetic modifications of PDE genes in both DCM iPSC-CMs and patient tissue.
|
26095046 |
2015 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We examined polymorphisms of the TNNT2 gene in idiopathic DCM (IDCM) patients of Kazak and Han ethnicity compared with healthy Kazak and Han controls.
|
26525169 |
2015 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the TPM1 (rs1071646) and TNNT2 (rs3729547) gene variants might represent risk factors for patients with DCM in the Kazakh population.
|
26400351 |
2015 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM.
|
26458567 |
2015 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
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 the Chinese population.
|
25110706 |
2014 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our aim in the present study is to investigate the genetic variations in Troponin T (cTnT) gene and its association with dilated cardiomyopathy (DCM) in south-Indian patients.
|
24992688 |
2014 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the TNNT2 polymorphisms might play an important role in susceptibility to DCM in the Chinese Han population.
|
23586019 |
2013 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A c.517T C>T, Arg173Trp TNNT2 variant segregated with all affected family members and was also detected in one additional DCM family in our registry.
|
24205113 |
2013 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
To test this hypothesis, we performed case-control analyses on all DNA polymorphic variation identified in a resequencing study of six candidate DCM genes (CSRP3, LDB3, MYH7, SCN5A, TCAP, and TNNT2) conducted in 289 unrelated white probands with DCM of unknown cause and 188 unrelated white controls.
|
20201937 |
2010 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
We recently undertook bidirectional resequencing of TNNT2, the cardiac troponin T gene, in 313 probands with DCM.
|
20031601 |
2009 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
CTD_human |
The highly lipophilic beta(1)-selective beta-blocker metoprolol, known to prevent ventricular fibrillation via central nervous system-mediated vagal activation, may be especially beneficial to DCM patients showing a family history of frequent sudden cardiac death, such as those with a deletion mutation DeltaK210 in the TNNT2 gene.
|
19477965 |
2009 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
CTD_human |
Knock-in mouse model of dilated cardiomyopathy caused by troponin mutation.
|
17556660 |
2007 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Known candidate loci for isolated conduction disorders, isolated DCM and conduction disorders complicated by DCM were excluded from disease causation in this family by linkage analysis, with the exception of the DCM-associated (CMD1D) locus on chromosome 1q32, where a maximum multipoint lod score of 3.7 in the interval between D1S3753 and D1S414, was generated.
|
16086176 |
2005 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of TNNC1/TNNT2 mutations in familial DCM was 5% with a penetrance of 100%.
|
15542288 |
2004 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
Biomarker
|
disease |
BEFREE |
The CTnT gene has also been associated with familial dilated cardiomyopathy (DCM).
|
15524172 |
2004 |
Cardiomyopathy, Familial Idiopathic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identical deletions in exon 13 of TNNT2 have been reported in 2 families with FDC, but little is known about the frequency of this deletion among patients with FDC and idiopathic dilated cardiomyopathy (IDC) and the associated phenotype.
|
11862580 |
2002 |