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 |
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 |
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 |
Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.
|
25593317 |
2015 |
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 |
Deception in simplicity: hereditary phospholamban mutations in dilated cardiomyopathy.
|
25563649 |
2015 |
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 |
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 |
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 |
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 |
CausalMutation
|
group |
CLINVAR |
Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.
|
19324307 |
2009 |
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 |
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 |
A missense mutation in PLN cytoplasmic domain (R9C) triggers dilated cardiomyopathy in humans, leading to premature death.
|
21282613 |
2011 |
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 |
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 |
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 |
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 |
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 |
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 |
CausalMutation
|
group |
CLINVAR |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
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 |
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 |
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 |
Biomarker
|
group |
HPO |
|
|
|