CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetics of hypertrophic cardiomyopathy: A review of current state.
|
28369730 |
2018 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of dilated cardiomyopathy.
|
20186049 |
2010 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.
|
16712796 |
2006 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Cardiomyopathy, Dilated, 1w
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetics of hypertrophic cardiomyopathy: A review of current state.
|
28369730 |
2018 |
Cardiomyopathy, Dilated, 1w
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Cardiomyopathy, Dilated, 1w
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of dilated cardiomyopathy.
|
20186049 |
2010 |
Cardiomyopathy, Dilated, 1w
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.
|
16236538 |
2006 |
Cardiomyopathy, Dilated, 1w
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Metavinculin mutations alter actin interaction in dilated cardiomyopathy.
|
11815424 |
2002 |
Cardiomyopathy, Dilated, 1w
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cardiomyopathies
|
0.480 |
GeneticVariation
|
group |
BEFREE |
Cardiomyopathy Mutations in Metavinculin Disrupt Regulation of Vinculin-Induced F-Actin Assemblies.
|
30844403 |
2019 |
Cardiomyopathies
|
0.480 |
GeneticVariation
|
group |
BEFREE |
Mutations in the MVcn insert are linked to various cardiomyopathies.
|
31483833 |
2019 |
Cardiomyopathies
|
0.480 |
GeneticVariation
|
group |
BEFREE |
We have identified the cardiomyopathy-susceptibility gene vinculin (<i>VCL</i>) mutation M94I may account for a sudden unexplained nocturnal death syndrome (SUNDS) case.
|
28373245 |
2017 |
Cardiomyopathies
|
0.480 |
Biomarker
|
group |
BEFREE |
Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy.
|
28218286 |
2017 |
Cardiomyopathies
|
0.480 |
GeneticVariation
|
group |
BEFREE |
The VCL-encoding protein was involved in cardiomyopathy that associated with hypertension, therefore our results suggest the rs4746172 of VCL may be a novel target for clinical interventions to reduce CVD risk by regulating blood pressure in male Chinese.
|
26487440 |
2015 |
Cardiomyopathies
|
0.480 |
GeneticVariation
|
group |
BEFREE |
Finally, the cardiomyopathy associated DeltaLeu954 and Arg975Trp metavinculin mutants reside on the replaced extended coil and the H1' alpha-helix, respectively.
|
20502710 |
2010 |
Cardiomyopathies
|
0.480 |
GeneticVariation
|
group |
BEFREE |
Metavinculin mutations are pathogenic substrates for both HCM and DCM, further highlighting the allelic nature of these cardiomyopathies.
|
16236538 |
2006 |
Cardiomyopathies
|
0.480 |
GeneticVariation
|
group |
BEFREE |
We provide the first report of a cardiomyopathy associated mutation in vinculin.
|
16712796 |
2006 |
Cardiomyopathies
|
0.480 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
Cardiomyopathies
|
0.480 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Hypertrophic Cardiomyopathy
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
We performed F-actin co-sedimentation and negative-stain EM experiments to dissect the coordinated roles of metavinculin and vinculin in actin fiber assembly and the effects of three known metavinculin CM mutations.
|
30844403 |
2019 |
Hypertrophic Cardiomyopathy
|
0.440 |
Biomarker
|
disease |
CLINGEN |
Differential lipid binding of vinculin isoforms promotes quasi-equivalent dimerization.
|
27503891 |
2016 |
Hypertrophic Cardiomyopathy
|
0.440 |
Biomarker
|
disease |
CLINGEN |
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.
|
17097056 |
2006 |