|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Here we report that an inherited human dilated cardiomyopathy with refractory congestive heart failure is caused by a dominant Arg --> Cys missense mutation at residue 9 (R9C) in phospholamban (PLN), a transmembrane phosphoprotein that inhibits the cardiac sarcoplasmic reticular Ca2+-adenosine triphosphatase (SERCA2a) pump.
|
12610310 |
2003 |
|
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 |
CausalMutation
|
group |
CLINVAR |
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
|
23785128 |
2013 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Phospholamban p.Arg14del cardiomyopathy is characterized by a distinct molecular signature compared to desmosomal ACM, specifically a different desmosomal protein distribution.
|
30763825 |
2019 |
|
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 |
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 |
Biomarker
|
group |
CLINGEN |
In contrast to reported benefits of PLN ablation in mouse heart failure, humans lacking PLN develop lethal dilated cardiomyopathy.
|
12639993 |
2003 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
The unique interaction between phospholamban and increased adrenergic drive, elucidated herein, provides the first evidence that compensatory increases in catecholamine stimulation can, even in the absence of preexisting heart failure, be a primary causative factor in the development of cardiomyopathy and early mortality.
|
11171800 |
2001 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
HPO |
|
|
|
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
The human phospholamban gene: structure and expression.
|
10198197 |
1999 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Cardiac-specific overexpression of phospholamban alters calcium kinetics and resultant cardiomyocyte mechanics in transgenic mice.
|
8567978 |
1996 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
No nucleotide change in the phospholamban coding region was found in 99 patients with cardiomyopathy.
|
12705874 |
2003 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy.
|
25923014 |
2015 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
No nucleotide change in the phospholamban coding region was found in 99 patients with cardiomyopathy.
|
12705874 |
2003 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Sarco(endo)plasmic reticulum Ca<sup>2+</sup> ATPase and its regulatory protein phospholamban (PLN) are potential therapeutic targets for DMD cardiomyopathy owing to their key role in regulating intracellular Ca<sup>2+</sup> cycling.
|
30118340 |
2018 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation.
|
26970417 |
2016 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
We collected mortality data from mutation-positive subjects with either DPP6-associated idiopathic ventricular fibrillation, SCN5A overlap syndrome, and PLN-R14del-mediated arrhythmogenic cardiomyopathy >2 to 10 years of ongoing clinical/cascade genetic screening.
|
30354299 |
2018 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Our aim was to screen 315 patients with arrhythmogenic right ventricular cardiomyopathy (n = 111), DCM (n = 95), hypertrophic cardiomyopathy (n = 40) and peripartum cardiomyopathy (n = 69) for disease-causing PLN mutations by high resolution melt analysis and DNA sequencing.
|
26917049 |
2016 |
|
Cardiomyopathies
|
0.700 |
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 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Studies with knockout and transgenic mice show that gain of inhibitory function of phospholamban alters cardiac contractility and could be a causal feature in some cardiomyopathies.
|
10951187 |
2000 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
BEFREE |
Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies.
|
29119312 |
2017 |
|
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 |