|
rs397516074
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Our objective was to define the primary contractile effect and molecular disease mechanisms of the prevalent cMyBP-C E258K HCM-causing mutation in nonremodeled murine engineered cardiac tissue (mECT).
|
23980194 |
2013 |
|
rs397516074
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Here, we study possible mechanisms of unbinding using steered molecular dynamics simulations for the complex in the wild type, in single mutations (E258K in C1, E441K in C2), as well as in a double mutation (E258K in C1 + E441K in C2), which are associated with severe HCM.
|
27267291 |
2017 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Molecular modeling of disease causing mutations in domain C1 of cMyBP-C.
|
23527136 |
2013 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice.
|
19590044 |
2009 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
|
15114369 |
2004 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy.
|
18374358 |
2008 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
|
12974739 |
2003 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
|
15563892 |
2005 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.
|
20359594 |
2010 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression.
|
20173211 |
2010 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
|
23690394 |
2013 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
|
9562578 |
1998 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
[Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].
|
20414521 |
2010 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies.
|
20159828 |
2010 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.
|
19808356 |
2009 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.
|
24865491 |
2014 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
|
23782526 |
2013 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
|
14563344 |
2003 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Contribution of inherited heart disease to sudden cardiac death in childhood.
|
17908752 |
2007 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants.
|
15769446 |
2005 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.
|
23980194 |
2013 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
"Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
|
12951062 |
2003 |
|
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy.
|
22563033 |
2012 |