LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE The History of the WHHL Rabbit, an Animal Model of Familial Hypercholesterolemia (II) - Contribution to the Development and Validation of the Therapeutics for Hypercholesterolemia and Atherosclerosis. 31748470 2020
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE The History of the WHHL Rabbit, an Animal Model of Familial Hypercholesterolemia (I) - Contribution to the Elucidation of the Pathophysiology of Human Hypercholesterolemia and Coronary Heart Disease. 31748469 2020
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE We aimed to establish a HFpEF model associated with hypercholesterolemia and type 2 diabetes mellitus by feeding a high-sucrose/high-fat (HSHF) diet to C57BL/6J low-density lipoprotein receptor (LDLr)<sup>-/-</sup> mice. 31064116 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 AlteredExpression disease BEFREE Activation of PCSK9 can thus decrease the expression of LDLR in the liver and inhibit LDL uptake, which leads to hypercholesterolaemia. 28549755 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE PCSK9, through promoting lysosomal degradation of hepatic low-density lipoprotein (LDL) receptor, can decrease the clearance of plasma LDLs, leading to hypercholesterolaemia and consequent atherosclerotic plaque formation. 31236571 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE Here, we demonstrated that BBR treatment reduced plasma LDL-C, TC and TG in LDLR wildtype (WT) mice fed a high fat and high cholesterol diet and it only lowered TG in LDLR WT mice fed a normal chow diet. 31666640 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE PCSK9 regulates LDL receptor degradation and plays key roles in hypercholesterolemia and related cardiovascular diseases. 31593224 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE To evaluate whether TRAF5 affects neointima formation, TRAF5-/-LDLR-/- and TRAF5+/+LDLR-/- mice consuming a high cholesterol diet (HCD) received wire-induced injury of the carotid artery. 31437850 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 AlteredExpression disease BEFREE Their levels, correlated inversely to LDL-R expression and directly to LDL-C, seem to play a central role in hypercholesterolaemia in NS. 31157893 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 AlteredExpression disease BEFREE The ACAT-2 and CYP7A1 mRNA expression were significantly decreased in HC diet supplemented with STG, while the mRNA levels of LDLR were markedly increased. 30937311 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH) is an inherited disease of lipoprotein metabolism caused by a defect in the LDL receptor (LDLR) leading to severe hypercholesterolemia, and associated with an increased risk of coronary heart disease and myocardial infarction. 31061510 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE We propose the following classification: familial hypercholesterolemia syndrome integrated by (1) heterozygous familial hypercholesterolemia: patients with clinically definite FH and a functional mutation in one allele of the LDLR, ApoB:100, and PCSK9 genes; (2) homozygous familial hypercholesterolemia: mutations affect both alleles; (3) polygenic familial hypercholesterolemia: patients with clinically definite FH but no mutations associated with FH are found (to be distinguished from non-familial, multifactorial hypercholesterolemia); (4) familial hypercholesterolemia combined with hypertriglyceridemia: a subgroup of familial combined hyperlipidaemia patients fulfilling clinically definite FH with associated hypertriglyceridemia. 31238171 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE We investigated the effects of elevated cholesterol and the function of LDLr in neural precursor cells (NPC) isolated from adult C57BL/6JRj mice in vitro. 31767163 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 AlteredExpression disease BEFREE Familial hypercholesterolemia (FH) is the most appropriate model for understanding the effects of excess LDL-C because affected individuals have inherently high levels of circulating LDL-C. To clarify the effects of hypercholesterolemia on cerebral small vessel disease (SVD), we investigated cerebrovascular damage in detail due to elevated LDL-C using high resolution brain magnetic resonance imaging (MRI) in patients with FH. 30880296 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family. 30112042 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE However, adropin over expression does not prevent hypercholesterolemia resulting from a high cholesterol diet and/or LDL receptor mutations. 29331507 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE The aim of this study was a comparison of aortic valve calcium score (AVCS) between patients with hypercholesterolemia and genetic diagnosis of familial hypercholesterolemia with low-density lipoprotein receptor gene mutation (LDLR-M group), versus patients with hypercholesterolemia without LDLR gene mutation (LDLR-WT group). 30592719 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE The results suggested that this strategy could be applied for evaluating potential bioactive compounds inhibiting the interaction of PCSK9/LDLR and this strategy could accelerate the discovery of new drug candidates for the treatment of PCSK9-mediated hypercholesterolemia. 30235833 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE Moreover, the heterozygous Ldlr KO hamsters on a short-term HCHF diet also had overt hypercholesterolemia, which could be effectively ameliorated with several lipid-lowering drugs. 29289533 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 AlteredExpression disease BEFREE Therefore, enhancing LDLR expression represents a potent treatment strategy for hypercholesterolemia. 30385871 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE Spontaneous severe hypercholesterolemia and atherosclerosis lesions in rabbits with deficiency of low-density lipoprotein receptor (LDLR) on exon 7. 30243490 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 Biomarker disease BEFREE Modeling hypercholesterolemia and vascular lipid accumulation in LDL receptor mutant zebrafish. 29187523 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 GeneticVariation disease BEFREE We recruited 49 nonfamilial hypercholesterolemia genetic hypercholesterolemia families (294 participants) and calculated cholesterol gene scores, derived from single nucleotide variants in SORT1, APOB, ABCG8, APOE and LDLR and lipoprotein(a) plasma concentration. 28919240 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 AlteredExpression disease BEFREE Hypercholesterolemia in hypothyroidism is mainly due to a reduction in low-density lipoprotein (LDL) receptor activity, this accompanied by concomitant diminishing control by triiodothyronine (T3) of sterol regulatory element-binding protein 2 (SREBP-2), which modulates cholesterol biosynthesis by regulating rate-limit degrading enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA) activity. 30233497 2018
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.900 AlteredExpression disease BEFREE Therefore, strategies that enhance the protein level of LDLR provide an attractive therapeutic target for the treatment of hypercholesterolemia. 30025252 2018