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: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE These results suggest that PLN deletion would be a promising approach to improve both mortality and cardiac function in the heart failure. 27992596 2016
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 AlteredExpression disease BEFREE In contrast, steady-state levels of phospholamban mRNA decreased, whereas levels of beta-myosin heavy-chain mRNA were unchanged with heart failure. 2040039 1991
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Phospholamban (PLN) inhibition enhances calcium cycling and is a potential novel therapy for heart failure (HF). 27811197 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 AlteredExpression disease BEFREE In contrast, PLB, troponin I (TnI) and PP1 protein and TnI phosphorylation levels did not differ between HF and NF. 14732205 2004
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 AlteredExpression disease BEFREE Furthermore, SANs from rabbits with HF had higher protein levels of phospholamban (PLB) and lower levels of hyperpolarization-activated cyclic nucleotide-gated potassium channel 4, ryanodine receptor and phosphorylated PLB than control SANs. 28352365 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Therapeutic disease RGD Rosuvastatin was found to ameliorate the heart failure in aged SHRs and to improve changes in SERCA-2a, PLB, RyR2, NCX1, CaMKII and PPI-1; PKCα/β2 signal pathway to be suppressed; the protective effect of Rosuvastatin to be dose dependent. 22970977 2012
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 Therapeutic disease RGD Reversal of subcellular remodelling by losartan in heart failure due to myocardial infarction. 22947202 2012
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 GeneticVariation disease BEFREE Mutations in the phospholamban (PLN) gene are associated with dilated cardiomyopathy (DCM) and severe heart failure. 26917049 2016
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE These results establish this FRET assay as a rapid and quantitative means of screening PLB(M) for optimization of gene therapy to activate SERCA, as needed for gene therapy in HF. 22405774 2012
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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