|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
The chromosome, its anatomy, and its aberrations.
|
2003160 |
1991 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
|
7898523 |
1995 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
|
8205619 |
1994 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.
|
8951566 |
1996 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Sudden death due to troponin T mutations.
|
9060892 |
1997 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.
|
9140840 |
1997 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility.
|
9201030 |
1997 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice.
|
9788962 |
1998 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
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 RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy.
|
10449439 |
1999 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.
|
10525521 |
1999 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.
|
10617660 |
2000 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T.
|
10731693 |
2000 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy.
|
10978365 |
2000 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.
|
11034944 |
2000 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Characterization of the two eIF4A-binding sites on human eIF4G-1.
|
11060291 |
2001 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
|
11106718 |
2000 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy.
|
11113119 |
2001 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T.
|
11158969 |
2001 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
|
11606294 |
2001 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.
|
11684629 |
2001 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
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 RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
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 |
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |