PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: Congestive heart failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE These results support the development of the PLN repressor as therapy for heart failure, and provide evidence that delivery of engineered ZFP TFs to native organs can drive therapeutically relevant levels of gene repression in vivo. 22828502 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE These findings suggest that the g.203A>C genetic variant in the human PLN promoter may contribute to depressed contractility and accelerate functional deterioration in heart failure. 18241046 2008
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE In this work, we have designed and synthesized an aptamer-based near-infrared fluorescence nanoprobe for fluorescence imaging of phospholamban (PLN), which is an intracellular micropeptide that affects calcium homeostasis, and is closely associated with human heart failure in the clinic. 30777430 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE Pathogenic variants in human phospholamban coding gene (PLN) are known to cause hereditary dilated cardiomyopathy with heart failure in an autosomal dominant mode. 30638982 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE Herein we focus on hereditary mutants of phospholamban that are associated with heart failure, such as Arg(9)-Cys, Arg(9)-Leu, Arg(9)-His, and Arg(14)-deletion. 25563649 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE In contrast, transgenic mice that express an inducible Galpha q mutant that cannot activate phospholipase Cbeta (PLCbeta) do not develop heart failure or changes in PLB phosphorylation, but do show decreased L-type Ca2+ current density. 16210321 2005
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE These findings suggest that the human G147D PPI-1 can attenuate responses of cardiomyocytes to beta-adrenergic agonists by decreasing PLN phosphorylation and therefore may contribute to deteriorated function in heart failure. 18192322 2008
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE The p.Arg14del founder mutation in the gene encoding phospholamban (PLN) is associated with an increased risk of malignant ventricular arrhythmia (VA) and heart failure. 29635323 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE We investigated whether genetic modification of calcium handling through deletion of phospholamban in mice would affect the development of heart failure in mice with transgenic overexpression of the beta1-adrenergic receptor. 14967726 2004
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE Mutations in the phospholamban (PLN) gene are associated with dilated cardiomyopathy (DCM) and severe heart failure. 26917049 2016
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE These results show that LOF PLB(M) can compete both physically and functionally with PLB(W), provide a rational explanation for the partial success of S16E-based gene therapy in animal models of heart failure, and establish a powerful platform for designing and testing more effective PLB(M) targeted for gene therapy of heart failure in humans. 21510919 2011
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE A mutation in the coding region of the phospholamban (PLN) gene (R14del) is identified in families with hereditary heart failure. 25923014 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE Through genetic screening of dilated cardiomyopathy patients, we identified a previously uncharacterized deletion of arginine 14 (PLN-R14Del) in the coding region of the phospholamban (PLN) gene in a large family with hereditary heart failure. 16432188 2006
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE Phospholamban (PLN) p.Arg14del cardiomyopathy is associated with an increased risk of malignant ventricular arrhythmias and severe heart failure and a poor prognosis from late adolescence. 28759816 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE Abnormalities in two proteins that regulate Ca(2+) handling in myocytes, phospholamban and the voltage-dependent L-type Ca(2+) channel, were also reversed, as was the increased expression of genes that are associated with heart failure. 16893886 2006
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE The potential physiological relevance of PLB function in human heart failure is also covered. 9790566 1998
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE Phospholamban (PLN) inhibition enhances calcium cycling and is a potential novel therapy for heart failure (HF). 27811197 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE Phospholamban deficiency may prevent such left ventricular dysfunction and its progression to heart failure in some of the animal models with dilated cardiomyopathy. 11855657 2001
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE In contrast to reported benefits of PLN ablation in mouse heart failure, humans lacking PLN develop lethal dilated cardiomyopathy. 12639993 2003
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE Chronic suppression of heart-failure progression by a pseudophosphorylated mutant of phospholamban via in vivo cardiac rAAV gene delivery. 12134142 2002
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE One compound increases SERCA2a calcium affinity in cardiac membranes but not in skeletal, suggesting that the compound is acting specifically on the SERCA2a-PLB complex, as needed for a drug to mitigate deficient calcium transport in heart failure. 30135432 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE Targeting phospholamban by gene transfer in human heart failure. 11864915 2002
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE Mutations and post-translational modifications of PLN may lead to dilated cardiomyopathy (DCM) and heart failure. 29501609 2018