|
rs121964856
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Further, engineered heart tissues (EHTs) prepared by combining rat decellularized heart extracellular matrices with heterozygous R92Q mutant cardiomyocytes showed similar drug responses as to HCM patients and increased sensitivity to caspofungin-induced cardiotoxicity.
|
31759053 |
2020 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models.
|
28735292 |
2017 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.
|
26507537 |
2016 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.
|
24691700 |
2015 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
IMAGE CARDIO MED: Inducible malignant ventricular tachyarrhythmia in a patient with genotyped hypertrophic cardiomyopathy in absence of left ventricular hypertrophy or enlargement.
|
19487599 |
2009 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
|
19150014 |
2009 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype.
|
19087273 |
2008 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Shared genetic causes of cardiac hypertrophy in children and adults.
|
18403758 |
2008 |
|
rs121964856
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Genotyping showed a heterozygous mis-sense mutation (275G>A) in the cardiac troponin T (TNNT2) gene, which is causally associated with HCM.
|
19087273 |
2008 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy.
|
12186860 |
2002 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T.
|
11158969 |
2001 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
|
11606294 |
2001 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
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 |
|
rs121964856
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Our results indicated that expression of the mutant (Arg92Gln) cTnT, known to cause HCM in humans, impaired intact adult cardiac myocyte contractility.
|
9201030 |
1997 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility.
|
9201030 |
1997 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
|
7898523 |
1995 |
|
rs121964856
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
|
8205619 |
1994 |