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: C0014544
Disease: Epilepsy
Epilepsy
0.010 GeneticVariation disease BEFREE In the years 2014-2016, the total direct cost of epilepsy amounted to, respectively, 355 mln PLN (84 mln EUR), 368 mln PLN (87 mln EUR), and 373 mln PLN (88 mln EUR), but the total indirect cost amounted to 1 bn PLN (239 mln EUR), 949 mln PLN (224 mln EUR), and 848 mln PLN (200 mln EUR). 30293466 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE The modulation of tumor PD-L1 by flavonoids or polyphenols is proposed to improve the response to PLB in low PD-L1 tumors. 31783532 2019
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
0.010 Biomarker phenotype BEFREE Aim Service evaluation of our dental hospital paediatric liaison nursing (DH-PLN) service which provides an additional route for information sharing about safeguarding concerns via an agreed pathway for two-way communication with public health nurses.Method Retrospective analysis of clinical records of all children referred by DH teams to PLN in the three months October-December 2016.Results One hundred and four children were referred; mean age was 6.2 years, 89.4% from Index of Multiple Deprivation (IMD) quintiles 4 and 5, and 70.2% were attending for dental general anaesthesia. 31350502 2019
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker disease 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: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions
0.010 AlteredExpression phenotype BEFREE Protein levels of pRyR2, NCX-1, CaMKII-α, and PLN were up-regulated and levels of SERCA2a were down-regulated in the LV Epi PVC group compared with the control group (p < 0.05). 30522650 2018
Hypertrophic disorder of skin, unspecified
0.010 GeneticVariation group BEFREE In 3D human engineered cardiac tissues (hECTs), a blunted lusitropic response to β-adrenergic stimulation was observed with R9C PLN. hiPSC-CMs harboring the R9C PLN mutation showed activation of a hypertrophic phenotype, as evidenced by expression of hypertrophic markers and increased cell size and capacitance of cardiomyocytes. 29752948 2018
CUI: C0264789
Disease: Familial cardiomyopathy
Familial cardiomyopathy
0.010 GeneticVariation disease BEFREE Sixty-four patients with four underlying pathologies were included: idiopathic (n = 16), non-ischemic dilated cardiomyopathy (NIDCM) (n = 16), familial cardiomyopathy (PLN/LMNA) (n = 16), and post-MI (n = 16)-associated PVCs. 29305677 2018
CUI: C0694539
Disease: Chronic atrial fibrillation
Chronic atrial fibrillation
0.010 AlteredExpression disease BEFREE Although expression and phosphorylation of the SR Ca<sup>2+</sup>-ATPase type-2a (SERCA2a) regulator phospholamban were unchanged in HFrEF and HFrEF-cAF patients, protein levels of SERCA2a were increased in HFrEF-cAF and sarcolipin expression was decreased in both HFrEF and HFrEF-cAF, likely increasing SR Ca<sup>2+</sup> uptake and load. 30356673 2018
CUI: C0856742
Disease: Post MI
Post MI
0.010 Biomarker phenotype BEFREE Sixty-four patients with four underlying pathologies were included: idiopathic (n = 16), non-ischemic dilated cardiomyopathy (NIDCM) (n = 16), familial cardiomyopathy (PLN/LMNA) (n = 16), and post-MI (n = 16)-associated PVCs. 29305677 2018
CUI: C1168330
Disease: Non-ischemic dilated cardiomyopathy
Non-ischemic dilated cardiomyopathy
0.010 Biomarker disease BEFREE Sixty-four patients with four underlying pathologies were included: idiopathic (n = 16), non-ischemic dilated cardiomyopathy (NIDCM) (n = 16), familial cardiomyopathy (PLN/LMNA) (n = 16), and post-MI (n = 16)-associated PVCs. 29305677 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 Biomarker disease BEFREE The expression of glucose regulated protein 78 (GRP78), sarco/endoplasmic reticulum Ca<sup>2+</sup>-ATPase 2 (SERCA2) and phosphorylated phospholamban (p-PLB) were increased after being treated with I-MVs. 28903365 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 Biomarker disease BEFREE The DVL1, SKI, STIM1, CTNNA3 and PLN were identified as candidate genes associated with CHD phenotypes. 28472932 2017
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
0.010 Biomarker disease BEFREE The expression of glucose regulated protein 78 (GRP78), sarco/endoplasmic reticulum Ca<sup>2+</sup>-ATPase 2 (SERCA2) and phosphorylated phospholamban (p-PLB) were increased after being treated with I-MVs. 28903365 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 GeneticVariation disease BEFREE In a phase 1/2 study, patients with advanced localized PCa were sequentially treated with 70 to 74 Gy to the prostate and dose-escalating PLN-IMRT at doses of 50 Gy (cohort 1), 55 Gy (cohort 2), and 60 Gy (cohort 3) in 35 to 37 fractions. 28939224 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 GeneticVariation disease BEFREE In a phase 1/2 study, patients with advanced localized PCa were sequentially treated with 70 to 74 Gy to the prostate and dose-escalating PLN-IMRT at doses of 50 Gy (cohort 1), 55 Gy (cohort 2), and 60 Gy (cohort 3) in 35 to 37 fractions. 28939224 2017
CUI: C0860659
Disease: Aloof
Aloof
0.010 Biomarker disease BEFREE In its unbound state, the cytoplasmic domain of PLN exists in equilibrium between a T state, which is membrane bound and helical, and an R state, which is membrane detached and unfolded. 28406633 2017
Adenocarcinoma of the gastroesophageal junction
0.010 Biomarker disease BEFREE 5 and 6 lymph nodes, PLN) metastasis and to determine the need for PLN dissection for patients with type II/III AEG. 28928013 2017
CUI: C1739395
Disease: Takotsubo Cardiomyopathy
Takotsubo Cardiomyopathy
0.010 AlteredExpression disease BEFREE Enhanced β-adrenergic signaling in TTS-iPSC-CMs under catecholamine-induced stress increased expression of the cardiac stress marker NR4A1; cyclic adenosine monophosphate levels; and cyclic adenosine monophosphate-dependent protein kinase A-mediated hyperphosphorylation of RYR2-S2808, PLN-S16, TNI-S23/24, and Cav1.2-S1928, and leads to a reduced calcium time to transient 50% decay. 28818208 2017
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular
0.010 GeneticVariation disease BEFREE Phospholamban R14del mutation carriers are at high risk for malignant ventricular arrhythmias and end-stage heart failure, with left ventricular ejection fraction <45% and sustained or nonsustained ventricular tachycardia as independent risk factors. 24909667 2014
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
0.010 GeneticVariation disease BEFREE High resolution systematic digital histological quantification of cardiac fibrosis and adipose tissue in phospholamban p.Arg14del mutation associated cardiomyopathy. 24732829 2014
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1
0.010 PosttranslationalModification disease BEFREE There is MHC isoform switching, increased adenylyl cyclase 5, and increased phosphorylation of phospholamban threonine 17 only in the D-HLHS group. 24793904 2014
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 Biomarker disease BEFREE This might define a novel mechanism by which PLN regulation of SERCA2a is altered under conditions where O-GlcNAcylation is increased, such as those occurring in diabetes. 20484118 2010
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE This might define a novel mechanism by which PLN regulation of SERCA2a is altered under conditions where O-GlcNAcylation is increased, such as those occurring in diabetes. 20484118 2010
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.010 Biomarker disease BEFREE Recent work in animal models has attempted to rescue FHC and DCM via modifications at the myofilament level, altering Ca(2+) homeostasis by targeting Ca(2+)-handling proteins, such as the sarcoplasmic reticulum ATPase and phospholamban, or by interfering with the products of different modifiers genes. 20079744 2010
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.010 Biomarker disease BEFREE Real-time quantitative PCR confirmed differential expression of the following genes in PAH relative to both normal controls and PH secondary to IPF: a disintegrin-like and metalloprotease with thrombospondin type 1 motif 9, cell adhesion molecule with homology to L1CAM, cytochrome b(558) and beta-polypeptide, coagulation factor II receptor-like 3, A-myb myeloblastosis viral oncogene homolog 1, nuclear receptor coactivator 2, purinergic receptor P2Y, platelet factor 4, phospholamban, and tropomodulin 3. 20081107 2010