PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Otherwise, mutations in the PLN gene are not a frequent cause of cardiomyopathies in our population. 16829191 2007
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy. 25923014 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE No nucleotide change in the phospholamban coding region was found in 99 patients with cardiomyopathy. 12705874 2003
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation. 26970417 2016
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE The variant AF177763.1:g.203A>C (at position -36 bp relative to the PLN transcriptional start site) was found only in the heterozygous form in 1 out of 296 normal subjects and in 22 out of 381 cardiomyopathy patients (heart failure at age of 18-44 years, ejection fraction=22+/-9%). 18241046 2008
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group BEFREE The pathogenic phospholamban R14del mutation causes dilated and arrhythmogenic right ventricular cardiomyopathies and is associated with an increased risk of malignant ventricular arrhythmias and end-stage heart failure. 24909667 2014
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 GeneticVariation disease UNIPROT Mutations in the human phospholamban gene in patients with heart failure. 22137083 2011
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 GeneticVariation disease UNIPROT Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310 2003
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 GeneticVariation disease UNIPROT Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 GeneticVariation disease UNIPROT Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649 2012
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P
0.700 GeneticVariation disease UNIPROT A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188 2006
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.400 GeneticVariation disease BEFREE Mutations in the gene encoding PLN have been associated with idiopathic dilated cardiomyopathy; however, no systematic search for PLN mutations in heart failure has been conducted. 22137083 2011
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.400 GeneticVariation disease BEFREE In this study, our objective was to determine the presence of the -36A>C alteration in PLN gene in a Brazilian population of individuals with HF and to test whether this alteration is associated with heart failure or with a worse prognosis of patients with HF. 19638213 2009