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 Biomarker group HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 GeneticVariation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group GENOMICS_ENGLAND
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group CLINGEN Targeted ablation of the phospholamban gene is associated with markedly enhanced myocardial contractility and loss of beta-agonist stimulation. 8062415 1994
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group CLINGEN Cardiac-specific overexpression of phospholamban alters calcium kinetics and resultant cardiomyocyte mechanics in transgenic mice. 8567978 1996
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group CLINGEN Transgenic approaches to define the functional role of dual site phospholamban phosphorylation. 9468536 1998
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group CLINGEN The human phospholamban gene: structure and expression. 10198197 1999
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group CLINGEN 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 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 Biomarker group BEFREE To determine the cross-signaling between Ca2+ and cAMP pathways, the phosphorylation of Ser16-PLB and Thr17-PLB was studied at increasing stimulation frequencies as well as in the presence of beta-adrenergic stimulation in isolated ventricular trabeculae from failing (dilative cardiomyopathy, DCM, heart transplants, n=9) and non-failing human myocardium (donor hearts, NF, n=9). 14530977 2003
CUI: C0878544
Disease: Cardiomyopathies
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
CUI: C0878544
Disease: Cardiomyopathies
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
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 Biomarker group CLINGEN 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
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 Biomarker group CLINGEN Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. 17010801 2006
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group CLINGEN Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 17655857 2007
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker group CLINGEN Phospholamban overexpression in transgenic rabbits. 17882530 2008
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