|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Pathogenic variants in human phospholamban coding gene (PLN) are known to cause hereditary dilated cardiomyopathy with heart failure in an autosomal dominant mode.
|
30638982 |
2019 |
|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Four major procedures are discussed in this chapter: (1) preparation of hECTs from human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) on single-tissue and multitissue bioreactors; (2) data acquisition of hECT contractile function on both of these platforms; (3) hECT modeling of hereditary phospholamban-R14 deletion-dilated cardiomyopathy; and (4) cryo-injury and doxorubicin-induced hECT models of acquired cardiomyopathy.
|
29987817 |
2018 |
|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations and post-translational modifications of PLN may lead to dilated cardiomyopathy (DCM) and heart failure.
|
29501609 |
2018 |
|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Dilated cardiomyopathy (DCM) can be caused by mutations in the cardiac protein phospholamban (PLN).
|
29752948 |
2018 |
|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the phospholamban (PLN) gene are associated with dilated cardiomyopathy (DCM) and severe heart failure.
|
26917049 |
2016 |
|
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.
|
25593317 |
2015 |
|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Deception in simplicity: hereditary phospholamban mutations in dilated cardiomyopathy.
|
25563649 |
2015 |
|
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
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 |
|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
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 |
|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Here we study the functional and biophysical characteristics of a PLB mutant associated with human dilated cardiomyopathy (DCM), with a deletion of arginine at position 14 (PLBR14Δ).
|
25225809 |
2014 |
|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The p.Arg14del mutation in the phospholamban (PLN) gene has been associated with dilated cardiomyopathy and recently also with arrhythmogenic cardiomyopathy.
|
24732829 |
2014 |
|
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.
|
23308118 |
2013 |
|
Cardiomyopathy, Dilated
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Recently, a nondesmosomal phospholamban (PLN) mutation (c.40_42delAGA) has been identified, causing dilated cardiomyopathy and arrhythmias.
|
23270881 |
2013 |
|
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 |
|
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
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
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Phospholamban (PLN) is a key regulator of SR and cardiac function, and PLN mutations in humans have been associated with dilated cardiomyopathy (DCM).
|
22155237 |
2012 |
|
Cardiomyopathy, Dilated
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
|
22427649 |
2012 |
|
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 |
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 |