|
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
|
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.
|
15623536 |
2005 |
|
rs74315380
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
|
rs74315380
|
|
A |
0.720 |
GeneticVariation |
CLINVAR |
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
|
15542288 |
2004 |
|
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Different functional properties of troponin T mutants that cause dilated cardiomyopathy.
|
12923187 |
2003 |
|
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
|
14654368 |
2003 |
|
rs74315379
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210.
|
14654368 |
2003 |
|
rs74315380
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210.
|
14654368 |
2003 |
|
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.
|
11684629 |
2001 |
|
rs60682848
|
|
|
0.710 |
GeneticVariation |
BEFREE |
To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance.
|
31668660 |
2020 |
|
rs111033559
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A mouse line with heterozygous transgenic expression of phospholamban carrying a substitution of cysteine for arginine 9 (TgPLN<sup>R9C</sup>) under the control of α-myosin heavy chain (αMHC) promoter features dilated cardiomyopathy, heart failure, and premature death.
|
29325795 |
2018 |
|
rs387907218
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy.
|
29071820 |
2018 |
|
rs59301204
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.
|
29382405 |
2018 |
|
rs397516881
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.
|
28737513 |
2017 |
|
rs397516881
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Mutation and downregulation of the co-chaperone protein BCL-2-associated athanogene 3 (BAG3) are associated with cardiac myopathy and heart failure, and a BAG3 E455K mutation leads to dilated cardiomyopathy (DCM).
|
28737513 |
2017 |
|
rs59301204
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A mutation in the gene encoding Lamin A/C (LMNA<sub>p.R331Q</sub> ) led to reduced maximal force development through secondary disease remodelling in patients suffering from dilated cardiomyopathy.
|
28436080 |
2017 |
|
rs59301204
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
|
28790152 |
2017 |
|
rs59301204
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy.
|
27886618 |
2017 |
|
rs111033559
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
|
25928149 |
2015 |
|
rs111033559
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.
|
25593317 |
2015 |
|
rs59301204
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification.
|
26383716 |
2015 |
|
rs397516881
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
|
25008357 |
2014 |
|
rs111033559
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.
|
23308118 |
2013 |
|
rs59301204
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation.
|
23142632 |
2013 |
|
rs59301204
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
|
23349452 |
2013 |