|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.
|
25548289 |
2015 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.
|
22462493 |
2013 |
|
rs104894503
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin.
|
22794249 |
2012 |
|
rs104894503
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The results allow us to propose a hypothesis of the pathogenetic changes caused by alpha-tropomyosin mutation Asp(175)Asn in familial hypertrophic cardiomyopathy on the basis of changes in Ca(2+) handling as a sensitive mechanism to compensate for alterations in sarcomeric structure.
|
15031138 |
2004 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thickness and clinical markers of sudden cardiac death in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene.
|
14734051 |
2004 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
|
11606294 |
2001 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction.
|
10400910 |
1999 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.
|
9822100 |
1998 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
The functional properties of wild type alpha-tropomyosin expressed in E. coli with an alanine-serine N-terminal leader (AS-alpha-Tm) were compared with those of AS-alpha-Tm with either of two missense mutations (Asp175Asn and Glu180Gly) shown to cause familial hypertrophic cardiomyopathy (FHC).
|
9245729 |
1997 |
|
rs104894503
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We studied the clinical and genetic features of familial hypertrophic cardiomyopathy (FHC) caused by an Asp175Asn mutation in the alpha-tropomyosin gene in affected subjects from three unrelated families.
|
9060904 |
1997 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
We studied the clinical and genetic features of familial hypertrophic cardiomyopathy (FHC) caused by an Asp175Asn mutation in the alpha-tropomyosin gene in affected subjects from three unrelated families.
|
9060904 |
1997 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy.
|
7729014 |
1995 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy.
|
8523464 |
1995 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
|
7898523 |
1995 |
|
rs104894503
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
We demonstrate that missense mutations (Asp175Asn; Glu180Gly) in the alpha-tropomyosin gene cause familial hypertrophic cardiomyopathy (FHC) linked to chromosome 15q2.
|
8205619 |
1994 |
|
rs104894503
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We demonstrate that missense mutations (Asp175Asn; Glu180Gly) in the alpha-tropomyosin gene cause familial hypertrophic cardiomyopathy (FHC) linked to chromosome 15q2.
|
8205619 |
1994 |