rs397516005
|
|
|
0.760 |
GeneticVariation |
BEFREE |
We studied 140 carriers (G+) of the TPM1-Asp175Asn or MYBPC3-Gln1061X pathogenic variants for HCM: The G+/LVH+ group (n = 98) consisted of mutation carriers with LVH and the G+/LVH- group (n = 42) without LVH.
|
30497761 |
2019 |
rs397516005
|
|
|
0.760 |
GeneticVariation |
BEFREE |
CMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X mutation.
|
30976029 |
2019 |
rs397516005
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Our objective was to measure the length of mitral valve leaflets by cardiovascular magnetic resonance (CMR) in subjects with HCM caused by a Finnish founder mutation in the myosin-binding protein C gene (MYBPC3-Q1061X), carriers of the same mutation without left ventricular hypertrophy, as well as in unselected consecutive patients with HCM, and respective controls.
|
27259862 |
2016 |
rs397516005
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy.
|
26267065 |
2015 |
rs397516005
|
|
|
0.760 |
GeneticVariation |
BEFREE |
In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases.Objective.
|
24888384 |
2014 |
rs397516005
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Four of the nine variants, a nonsense mutation Gln1061X, a splice acceptor mutation (IVS5-2A-->C), a novel substitution in intron 14 (IVS14-13G-->A), and a novel 3-bp deletion in exon 25 (Ex25DeltaLys) were concluded to be disease-causing mutations because they cosegregated with the HCM phenotype or were absent in more than 200 normal chromosomes, or both.
|
12110947 |
2002 |
rs397516005
|
|
A |
0.760 |
CausalMutation |
CLINVAR |
|
|
|
rs375882485
|
|
|
0.720 |
GeneticVariation |
BEFREE |
An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 58-year-old male with hypertrophic cardiomyopathy who carries the heterozygous pathogenic myosin binding protein C mutation p.Arg502Trp.
|
30316040 |
2018 |
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 |
Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.
|
24865491 |
2014 |
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
|
25031304 |
2014 |
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 |
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
|
23690394 |
2013 |
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
|
|
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 |
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 |
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
|
23233322 |
2013 |
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy.
|
22563033 |
2012 |
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.
|
22907696 |
2012 |
rs397516074
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
|
22267749 |
2012 |
rs375882485
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
|
20378854 |
2010 |
rs375882485
|
|
|
0.720 |
GeneticVariation |
BEFREE |
MYBPC3 Arg502Trp conveys a 340-fold increased risk for HCM by 45 years of age, when more than 50% of carriers have overt disease.
|
20378854 |
2010 |
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 |
[Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].
|
20414521 |
2010 |