rs111033559
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
|
16432188 |
2006 |
rs111033559
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.800 |
GeneticVariation |
UNIPROT |
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
|
12610310 |
2003 |
rs111033559
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the human phospholamban gene in patients with heart failure.
|
22137083 |
2011 |
rs111033559
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
|
22427649 |
2012 |
rs111033559
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.800 |
GeneticVariation |
UNIPROT |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
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 |
rs754782171
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.700 |
GeneticVariation |
UNIPROT |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
rs754782171
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.700 |
GeneticVariation |
UNIPROT |
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
|
16432188 |
2006 |
rs754782171
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.700 |
GeneticVariation |
UNIPROT |
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
|
22427649 |
2012 |
rs754782171
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the human phospholamban gene in patients with heart failure.
|
22137083 |
2011 |
rs754782171
|
PLN;CEP85L
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.700 |
GeneticVariation |
UNIPROT |
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
|
12610310 |
2003 |
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 |
rs794729138
|
PLN;CEP85L
|
Cardiomyopathy, Hypertrophic, Familial
|
CCT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |