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: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease HPO
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE Temporary amelioration of hyperlipidemia in low density lipoprotein receptor-deficient rabbits transplanted with genetically modified hepatocytes. 2236051 1990
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE Although our recent data confirmed this high frequency of heterozygous FH in our pediatric population with hypercholesterolemia, none of the five established molecular defects for the French-Canadian population was detected in 29% of the unrelated French-Canadian children characterized by a persistent increase in LDL (low density lipoprotein receptor) cholesterol and a positive parental history of hyperlipidemia (Assouline et al., 1995). 9195230 1997
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE We tested the efficacy of adenovirus-mediated gene transfer of LPL as treatment of experimental hyperlipidemias associated with apolipoprotein (apoE) deficiency (apoE-/-) and low-density lipoprotein receptor (LDLr) deficiency (LDLr-/-) in mice. 9382958 1997
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 GeneticVariation disease BEFREE Use of this marker in the families of twenty-three FH probands from Hampshire demonstrated co-segregation of the hyperlipidaemia phenotype with the LDLR gene region, except in one family with defective apolipoprotein B-100, and a family turning out to display familial combined hyperlipidaemia. 9543550 1997
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 GeneticVariation disease BEFREE Cosegregation of E397X mutation and LDLR gene RFLP haplotypes with hyperlipidemia was demonstrated by family study. 9889019 1998
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE Reversal of hyperlipidaemia in apolipoprotein C1 transgenic mice by adenovirus-mediated gene delivery of the low-density-lipoprotein receptor, but not by the very-low-density-lipoprotein receptor. 10024503 1999
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 GeneticVariation disease BEFREE These observations testify to the biological complexity of genotype-environment interactions in individuals carrying mutations at the LDL-R locus and indicate that genetic analysis importantly complements the clinical and biochemical diagnosis of patients with hyperlipidemia. 10924730 2000
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 GeneticVariation disease BEFREE Four other first-degree relatives had hyperlipidemia but no LDL-receptor mutation. 11238294 2001
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 GeneticVariation disease BEFREE Only a single sequence variation, a missense mutation in the low density lipoprotein receptor gene, co-segregated with hyperlipidemia in the proband's family. 11381031 2001
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease CTD_human Low density lipoprotein receptor deficient (LDLR-KO) and apolipoprotein E deficient (apo E-KO) mice both develop hyperlipidemia and atherosclerosis by different mechanisms. 11947894 2002
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 GeneticVariation disease BEFREE Molecular analysis of the LDL receptor gene will clearly identify the cause of the patient's hyperlipidemia and allow appropriate early treatment as well as antenatal and family studies. 12837857 2003
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE Recent studies on LDL receptor-deficient mice that are hyperglycemic, but exhibit no marked dyslipidemia compared with nondiabetic controls, show that diabetes in the absence of diabetes-induced hyperlipidemia is associated with an accelerated formation of atherosclerotic lesions, similar to what is seen in fat-fed nondiabetic mice. 17395883 2007
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE Conversely, absence of SREBP-1 suppressed Western diet-induced hyperlipidemia in LDLR-deficient mice and ameliorated atherosclerosis. 21546605 2011
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 AlteredExpression disease BEFREE In experimental animal models of FH, LDLr overexpression following viral vector-based gene transfer has been shown to be associated with long-term stable correction of hyperlipidemia, with attenuation of atherosclerosis progression, and in certain cases even with lesion regression. 21774774 2011
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE Herein, in low-density lipoprotein receptor-deficient hyperlipidemic and streptozotozin-induced diabetic mice, hyperglycemia and hyperlipidemia acted reciprocally, accentuating renal injury and altering renal function. 23318573 2013
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 AlteredExpression disease BEFREE Chow-fed hypomorphic Apoe mice deficient in low-density lipoprotein receptor expression (Apoe(h/h)Ldlr(-/-)Mx1-cre mice) develop hyperlipidemia and atherosclerosis. 23788760 2013
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 GeneticVariation disease BEFREE Several novel therapies have been introduced for the treatment of people with genetic defects that result in loss of function within the LDL receptor, a major determinant of inherited hyperlipidaemias. 25131980 2014
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 AlteredExpression disease BEFREE BBR activates hepatic Raf-1 signaling and up-regulates LDL receptor expression in a rat model of hyperlipidemia with no impact on liver Ras activity. 25196457 2014
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE Additionally, plasma lipid concentration lowering effects of PB-liposome/G5-PEG were evaluated in vivo in a LDLR-/- hyperlipidemia mouse model. 25587935 2015
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease CTD_human Bisphenol A exposure induces metabolic disorders and enhances atherosclerosis in hyperlipidemic rabbits. 25619500 2015
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE The strongest associations for lipid levels change were detected at LPL, TRIB1, APOA1-C3-A4-A5, LIPC, CETP, and LDLR (P range from 4.84×10(-4) to 4.62×10(-18)), whereas LPL, TRIB1, ABCA1, APOA1-C3-A4-A5, CETP, and APOE displayed significant strongest associations for incident hyperlipidemia (P range from 1.20×10(-3) to 4.67×10(-16)). 26582766 2016
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE We describe two novel immunodeficient mouse models of hyperlipidemia (Rag1<sup>-/</sup><sup>-</sup>/LDLR<sup>-/</sup><sup>-</sup> and Rag1<sup>-/</sup><sup>-</sup>/ApoE (apolipoprotein E)<sup>-/</sup><sup>-</sup> mice) in addition to established immunocompetent LDLR<sup>-/</sup><sup>-</sup> and ApoE<sup>-/</sup><sup>-</sup> mice. 28759039 2017
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE Our findings demonstrate that the Ldlr KO hamster is an animal model of choice for human FH and has great potential in translational research of hyperlipidemia and coronary heart disease. 29289533 2018
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.500 Biomarker disease BEFREE Hepatic NPC1L1 promotes hyperlipidemia in LDL receptor deficient mice. 29601818 2018