|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
HPO |
|
|
|
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Cardiomyopathies associated with lamin A/C (n = 5), sarcomeric (n = 8), and desmin (n = 3) mutations all showed a different pattern from that of the desmosomal and PLN mutation carriers.
|
28365402 |
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 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.
|
17010801 |
2006 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
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 |
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 |
CLINGEN |
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 |
GeneticVariation
|
group |
BEFREE |
Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation.
|
26970417 |
2016 |
|
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 |
GeneticVariation
|
group |
BEFREE |
A naturally occurring R9C mutation of phospholamban (PLB) triggers cardiomyopathy and premature death by altering regulation of sarco/endoplasmic reticulum calcium-ATPase (SERCA).
|
25593317 |
2015 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
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 |
|
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 |
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 |
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 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
|
17655857 |
2007 |
|
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 |
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 |
CLINGEN |
Identification of regions in the Ca(2+)-ATPase of sarcoplasmic reticulum that affect functional association with phospholamban.
|
8428955 |
1993 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In PLN p.Arg14del mutation associated cardiomyopathy, myocardial fibrosis is predominantly present in the left posterolateral wall and to a lesser extent in the right ventricular wall, whereas fatty changes are more pronounced in the right ventricular wall.
|
24732829 |
2014 |
|
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 |
GeneticVariation
|
group |
BEFREE |
In the present study a comprehensive analysis was made of mediators of the βAR pathway, myofilament properties and cardiac structure in patients with idiopathic (IDCM; n = 13) and ischemic (ISHD; n = 10) cardiomyopathy in comparison to non-failing hearts (donor; n = 10) for the following parameters: βAR density, G-coupled receptor kinases 2 and 5, stimulatory and inhibitory G-proteins, phosphorylation of myofilament targets of PKA, protein phosphatase 1, phospholamban, SERCA2a and single myocyte contractility.
|
21132354 |
2010 |
|
Cardiomyopathies
|
0.700 |
GeneticVariation
|
group |
BEFREE |
In this genetic cardiomyopathy cohort, PLN Immunohistochemical analysis in LVAD biopsies was found to be a highly sensitive (100%) and specific (95%) method for demonstration of PLN protein aggregates in PLN p.Arg14del cardiomyopathy.
|
28759816 |
2018 |
|
Cardiomyopathies
|
0.700 |
Biomarker
|
group |
CLINGEN |
Levels of SR proteins involved in calcium release (ryanodine receptor), calcium binding (calsequestrin, calreticulin), and calcium uptake (calcium ATPase, phospholamban) were measured by Western blot analysis in nonfailing human myocardium (n = 7) and in end-stage failing myocardium due to dilated cardiomyopathy (n = 14).
|
7641356 |
1995 |