rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
|
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 |
rs111033560
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
|
0.710 |
GeneticVariation |
BEFREE |
Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27.
|
12639993 |
2003 |
rs111033560
|
PLN;CEP85L
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
GeneticVariation |
BEFREE |
one L39X nonsense mutation was identified in 1 of 1,064 HCM proband cases with a family history of HCM, previously found to be negative for the current HCM genetic test panel.
|
21167350 |
2011 |
rs761056344
|
PLN;CEP85L
|
Cardiomyopathy, Familial Idiopathic
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we use solid-state NMR spectroscopy to investigate the structural dynamics of two lethal PLN mutations, R9C and R25C, which lead to DCM.
|
29501609 |
2018 |
rs761056344
|
PLN;CEP85L
|
Cardiomyopathy, Familial Idiopathic
|
|
0.020 |
GeneticVariation |
BEFREE |
This is the first mechanistic evidence that increased PLN inhibition may impact both SR Ca(2+) uptake and Ca(2+) release activities and suggests that the human R25C-PLN may be a prognostic factor for increased ventricular arrhythmia risk in DCM carriers.
|
25852082 |
2015 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Familial Idiopathic
|
|
0.010 |
GeneticVariation |
BEFREE |
We detected the previously reported PLN c.25C > T (p.R9C) mutation in a South African family with severe autosomal dominant DCM.
|
26917049 |
2016 |
rs111033560
|
PLN;CEP85L
|
Heart failure
|
|
0.010 |
GeneticVariation |
BEFREE |
Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27.
|
12639993 |
2003 |
rs111033560
|
PLN;CEP85L
|
Congestive heart failure
|
|
0.010 |
GeneticVariation |
BEFREE |
Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27.
|
12639993 |
2003 |
rs761056344
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we identified a novel PLN mutation (R25C) in dilated cardiomyopathy (DCM) and investigated its functional significance in cardiomyocyte Ca(2+)-handling and contractility.
|
25852082 |
2015 |
rs761056344
|
PLN;CEP85L
|
Ventricular arrhythmia
|
|
0.010 |
GeneticVariation |
BEFREE |
This is the first mechanistic evidence that increased PLN inhibition may impact both SR Ca(2+) uptake and Ca(2+) release activities and suggests that the human R25C-PLN may be a prognostic factor for increased ventricular arrhythmia risk in DCM carriers.
|
25852082 |
2015 |
rs111033559
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
|
12610310 |
2003 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
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
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.
|
18056057 |
2008 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.
|
23308118 |
2013 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
|
22427649 |
2012 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.
|
25593317 |
2015 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.
|
21282613 |
2011 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.
|
19139388 |
2009 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
rs111033560
|
PLN;CEP85L
|
Hypertrophic Cardiomyopathy
|
G |
0.710 |
CausalMutation |
CLINVAR |
[Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area].
|
16235537 |
2005 |
rs111033560
|
PLN;CEP85L
|
Hypertrophic Cardiomyopathy
|
G |
0.710 |
CausalMutation |
CLINVAR |
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
|
12639993 |
2003 |
rs111033560
|
PLN;CEP85L
|
Hypertrophic Cardiomyopathy
|
G |
0.710 |
CausalMutation |
CLINVAR |
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
|
17655857 |
2007 |
rs111033560
|
PLN;CEP85L
|
Hypertrophic Cardiomyopathy
|
G |
0.710 |
CausalMutation |
CLINVAR |
Interpreting secondary cardiac disease variants in an exome cohort.
|
23861362 |
2013 |
rs111033560
|
PLN;CEP85L
|
Hypertrophic Cardiomyopathy
|
G |
0.710 |
CausalMutation |
CLINVAR |
Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.
|
21332051 |
2011 |