Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The changes of the cardiac structure and function in cTnTR141W transgenic mice.
|
18606313 |
2008 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T.
|
10731693 |
2000 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.
|
11773635 |
2002 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.
|
27036851 |
2016 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.
|
20978592 |
2010 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.
|
26498512 |
2015 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
|
7898523 |
1995 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
|
21846512 |
2012 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).
|
24992688 |
2014 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
[Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene].
|
17456375 |
2007 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of dilated cardiomyopathy.
|
20186049 |
2010 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.
|
18651846 |
2008 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.
|
28408708 |
2017 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies.
|
18349139 |
2008 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.
|
8989109 |
1996 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies.
|
20159828 |
2010 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.
|
10085122 |
1999 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
|
11606294 |
2001 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy.
|
24480310 |
2014 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
|
12860912 |
2003 |
Cardiomyopathy, Familial Hypertrophic, 2
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
|
14654368 |
2003 |