rs121913624
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Hypertrophic cardiomyopathy R403Q mutation in rabbit β-myosin reduces contractile function at the molecular and myofibrillar levels.
|
30322937 |
2018 |
rs121913624
|
|
|
0.740 |
GeneticVariation |
BEFREE |
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 38-year-old female patient with HCM in which genetic testing identified the well-known pathogenic p.Arg403Gln mutation in myosin heavy chain 7. iPSCs express pluripotency markers, demonstrate trilineage differentiation capacity, and display a normal 46,XX female karyotype.
|
30508693 |
2018 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.
|
24928957 |
2014 |
rs121913624
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Therefore, increased tension cost might contribute to HCM disease in patients carrying the R403Q mutation.
|
24928957 |
2014 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences.
|
23580644 |
2013 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes?
|
24268868 |
2013 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Creatine kinase adenosine triphosphate and phosphocreatine energy supply in a single kindred of patients with hypertrophic cardiomyopathy.
|
23751935 |
2013 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy.
|
22213221 |
2012 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy.
|
22735528 |
2012 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface.
|
17987111 |
2007 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.
|
17351073 |
2007 |
rs121913624
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by a malignant form of HCM.
|
15386449 |
2004 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
|
12975413 |
2003 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.
|
12084606 |
2002 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy.
|
10882745 |
2000 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level.
|
11227787 |
2000 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.
|
10725281 |
2000 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy.
|
10764406 |
2000 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation.
|
10086390 |
1999 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.
|
9826622 |
1998 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
A mouse model of familial hypertrophic cardiomyopathy.
|
8614836 |
1996 |
rs121913624
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations.
|
7789380 |
1995 |