×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
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
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.
25593317
2015
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.
23308118
2013
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
22427649
2012
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.
22155237
2012
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
22707725
2012
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
22820313
2012
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.
21282613
2011
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.
19324307
2009
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.
19139388
2009
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.
18056057
2008
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
16432188
2006
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.
17010801
2006
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathy, Dilated
0.100
CausalMutation
CLINVAR
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
12610310
2003