×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.100
CausalMutation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
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, 1P
0.100
CausalMutation
CLINVAR
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
25611685
2015
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.100
CausalMutation
CLINVAR
Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?
26535225
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
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Interpreting secondary cardiac disease variants in an exome cohort.
23861362
2013
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Cardiomyopathies
0.100
CausalMutation
CLINVAR
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
23785128
2013
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.100
CausalMutation
CLINVAR
Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy.
23568436
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
Cardiomyopathies
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, 1P
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, 1P
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, 1P
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
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
21167350
2011
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.
21332051
2011
×
Entrez Id:
387119
Gene Symbol:
CEP85L
CEP85L
CARDIOMYOPATHY, DILATED, 1P
0.100
CausalMutation
CLINVAR
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
21167350
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
Hypertrophic Cardiomyopathy
0.100
CausalMutation
CLINVAR
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
17655857
2007