|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.
|
17010801 |
2006 |
|
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 |
LHGDN |
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
|
12610310 |
2003 |
|
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 |
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 |
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 |
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 |
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 |
Biomarker
|
group |
HPO |
|
|
|
|
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 |