Cardiomyopathy, Dilated
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|
Cardiomyopathy, Dilated
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Sarcoplasmic reticulum Ca2+ATPase and phospholamban mRNA and protein levels in end-stage heart failure due to ischemic or dilated cardiomyopathy.
|
8862513 |
1996 |
Cardiomyopathy, Dilated
|
0.200 |
Biomarker
|
group |
BEFREE |
Thus, interfering with phospholamban-SERCA2a interaction may provide a novel therapeutic approach for preventing the progression of dilated cardiomyopathy.
|
10555147 |
1999 |
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
|
12610310 |
2003 |
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
|
12610310 |
2003 |
Cardiomyopathy, Dilated
|
0.200 |
Biomarker
|
group |
BEFREE |
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
|
12639993 |
2003 |
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
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
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Through genetic screening of dilated cardiomyopathy patients, we identified a previously uncharacterized deletion of arginine 14 (PLN-R14Del) in the coding region of the phospholamban (PLN) gene in a large family with hereditary heart failure.
|
16432188 |
2006 |
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Through genetic screening of dilated cardiomyopathy patients, we identified a previously uncharacterized deletion of arginine 14 (PLN-R14Del) in the coding region of the phospholamban (PLN) gene in a large family with hereditary heart failure.
|
16432188 |
2006 |
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.
|
17010801 |
2006 |
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.
|
17010801 |
2006 |
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation.
|
16829191 |
2007 |
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We performed SSCP mutational screening and DNA sequencing of the PLN gene in 186 patients with either hypertrophic or dilated cardiomyopathy.
|
16829191 |
2007 |
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Here, we identified a genetic variant in the PLN promoter region, which increases its expression and may serve as a genetic modifier in dilated cardiomyopathy (DCM).
|
18241046 |
2008 |
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.
|
18056057 |
2008 |
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.
|
18056057 |
2008 |
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.
|
19324307 |
2009 |
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.
|
19139388 |
2009 |
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A candidate gene approach resulted in identification of a heterozygous deletion of arginine 14 in the gene encoding phospholamban (PLN-R14Del) segregating with dilated cardiomyopathy in the family pedigree.
|
19324307 |
2009 |
Cardiomyopathy, Dilated
|
0.200 |
Biomarker
|
group |
BEFREE |
Although Ca(2+) reuptake kinetics in young PLN(-/-)+TgPLN(R9C) mice exceeded those measured in wild-type control animals, this parameter alone was not sufficient to prevent the eventual development of dilated cardiomyopathy.
|
19139388 |
2009 |
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.
|
21282613 |
2011 |
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A missense mutation in PLN cytoplasmic domain (R9C) triggers dilated cardiomyopathy in humans, leading to premature death.
|
21282613 |
2011 |
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
Cardiomyopathy, Dilated
|
0.200 |
Biomarker
|
group |
BEFREE |
Hydrophobic imbalance in the cytoplasmic domain of PLN appears to be a predictor for the development and progression of dilated cardiomyopathy.
|
22427649 |
2012 |
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.
|
22155237 |
2012 |