Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
|
22820313 |
2012 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
|
22820313 |
2012 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
|
22820313 |
2012 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
|
22427649 |
2012 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.
|
22155237 |
2012 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Mutations in the PLN gene are a rare cause of heart failure, present almost exclusively in patients with dilated cardiomyopathy etiology.
|
22137083 |
2011 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
|
21167350 |
2011 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the human phospholamban gene in patients with heart failure.
|
22137083 |
2011 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
|
21167350 |
2011 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In the present study a comprehensive analysis was made of mediators of the βAR pathway, myofilament properties and cardiac structure in patients with idiopathic (IDCM; n = 13) and ischemic (ISHD; n = 10) cardiomyopathy in comparison to non-failing hearts (donor; n = 10) for the following parameters: βAR density, G-coupled receptor kinases 2 and 5, stimulatory and inhibitory G-proteins, phosphorylation of myofilament targets of PKA, protein phosphatase 1, phospholamban, SERCA2a and single myocyte contractility.
|
21132354 |
2010 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of dilated cardiomyopathy.
|
20186049 |
2010 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
The variant AF177763.1:g.203A>C (at position -36 bp relative to the PLN transcriptional start site) was found only in the heterozygous form in 1 out of 296 normal subjects and in 22 out of 381 cardiomyopathy patients (heart failure at age of 18-44 years, ejection fraction=22+/-9%).
|
18241046 |
2008 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Phospholamban overexpression in transgenic rabbits.
|
17882530 |
2008 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Otherwise, mutations in the PLN gene are not a frequent cause of cardiomyopathies in our population.
|
16829191 |
2007 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
|
17655857 |
2007 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
|
17655857 |
2007 |
Cardiomyopathies
|
0.700 |
CausalMutation
|
group |
CLINVAR |
Thus, by chronic suppression of sarcoplasmic reticulum Ca(2+)-ATPase activity, the nonreversible superinhibitory function of mutant PLN-R14Del may lead to inherited dilated cardiomyopathy and premature death in both humans and mice.
|
16432188 |
2006 |
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Transgenic mice overexpressing the mutant PLN-R14Del recapitulated human cardiomyopathy exhibiting similar histopathologic abnormalities and premature death.
|
16432188 |
2006 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.
|
17010801 |
2006 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Thus, by chronic suppression of sarcoplasmic reticulum Ca(2+)-ATPase activity, the nonreversible superinhibitory function of mutant PLN-R14Del may lead to inherited dilated cardiomyopathy and premature death in both humans and mice.
|
16432188 |
2006 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
|
16432188 |
2006 |
CARDIOMYOPATHY, DILATED, 1P
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
|
16432188 |
2006 |
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Phospholamban (PLN) is a modest modulator of intracellular Ca2+ homeostasis and may be a candidate gene responsible for cardiomyopathy.
|
16382369 |
2005 |