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 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 Biomarker group BEFREE With the generous support of the Leducq Foundation, our Transatlantic Network of Excellence consortium to cure Phospholamban (PLN)-induced cardiomyopathy (CURE-PLaN) unites 6 leading centers to address the current challenges associated with arrhythmogenic right ventricular cardiomyopathy/dilated cardiomyopathy (DCM) with an initial focus on PLN and development of effective treatments. 31513489 2019
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
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 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 Biomarker group CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C0878544
Disease: Cardiomyopathies
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
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: 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 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 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 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 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 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 CausalMutation group CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128 2013
CUI: C0878544
Disease: Cardiomyopathies
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
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 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
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group CLINGEN PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 21167350 2011
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 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 Biomarker group CLINGEN Phospholamban overexpression in transgenic rabbits. 17882530 2008