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: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE We still need to know which tissues take up the most LDL; we need to know how much LDL is cleared by the liver and whether this clearance involves the same LDL receptor that operates in extra-hepatic cells; we need to know the mechanism for the clearance of the one-half to two-thirds of LDL that leaves the plasma by receptor-independent pathways; and finally we need to know how an abnormal accumulation of LDL in the plasma leads to the deposition of cholesterol in scavenger cells and produces atherosclerosis. 6994567 1980
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE A six-year-old girl with severe hypercholesterolemia and atherosclerosis had two defective genes at the low-density-lipoprotein (LDL) receptor locus, as determined by biochemical studies of cultured fibroblasts. 6390206 1984
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE We compare the nucleotide sequences of the region encompassing the putative LDL receptor-binding sites from four pig alleles, including one implicated directly in atherosclerosis. 2905687 1988
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE Mutations in another genetic locus, the low density lipoprotein (LDL) receptor gene, give rise to familial hypercholesterolemia (FH), a disease characterized by hypercholesterolemia, tendon xanthomas and atherosclerosis. 2567693 1989
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE Defects in the low density lipoprotein receptor gene affect lipoprotein (a) levels: multiplicative interaction of two gene loci associated with premature atherosclerosis. 2524837 1989
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE Aortic and coronary atheromatosis in a woman with severe hypercholesterolaemia without LDL receptor alterations. 1889447 1991
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 AlteredExpression disease BEFREE To determine the effects of the overexpressed LPL on diet-induced atherosclerosis, we have generated low density lipoprotein receptor (LDLR) knockout mice that overexpressed human LPL transgene (LPL/LDLRKO) and compared their plasma lipoproteins and atherosclerosis with those in nonexpressing LDLR-knockout mice (LDLRKO). 8692976 1996
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE Familial hypercholesterolemia (FH) results from an inherited functional defect of the low density lipoprotein (LDL) receptor and is complicated by premature atherosclerosis. 8808773 1996
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE Recent interest in atherosclerosis has focused on the genetic determinants of low-density lipoprotein (LDL) particle size, because of (i) the association of small dense LDL particles with a three-fold increased risk for coronary artery disease (CAD) and (ii) the recent report of linkage of the trait to the LDL receptor (chromosome 19). 8644718 1996
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE Within certain families and isolated communities, the effect of a single candidate gene on atherosclerosis susceptibility may be profound, as in the case of mutations in the gene encoding the low-density lipoprotein receptor, which produce familial hypercholesterolemia and premature atherosclerosis. 9288444 1997
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE Atherosclerosis in LDL-receptor knockout mice is accelerated by immunization with anticardiolipin antibodies. 9412988 1997
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE A synergistic interaction between the apolipoprotein C-III and the LDL receptor defects produced large quantities of VLDL and LDL and enhanced the development of atherosclerosis. 8994037 1997
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE We conclude that LDLR-/-; Tg(apoB+/+) mice exhibit accelerated atherosclerosis on a chow diet and thus provide an excellent animal model in which to study atherosclerosis. 9539774 1998
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE This observation could explain the higher incidence of atherosclerosis in male LDL-R deficient mice and human familial hypercholesterolemia (FH) patients. 9642116 1998
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 AlteredExpression disease BEFREE In contrast, mice deficient for the LDL receptor (Ldlr-/-) have only mildly elevated LDL cholesterol levels and little atherosclerosis. 9701246 1998
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE Mutations in the low density lipoprotein (LDL)-receptor gene cause familial hypercholesterolemia (FH), an autosomal dominant disease associated to an increased risk of premature atherosclerosis. 10660340 1998
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE Familial hypercholesterolemia (FH), a monogenic disease known to be caused by low-density lipoprotein receptor (LDLR) gene mutations, results in the development of premature atherosclerosis and coronary artery disease in affected individuals. 9889019 1998
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE Low-density lipoprotein receptor-related protein in atherosclerosis development: up-regulation of gene expression in patients with coronary obstruction. 9694437 1998
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE We have previously shown that low density lipoprotein receptor knockout mice overexpressing LPL are resistant to diet-induced atherosclerosis due to the suppression of remnant lipoproteins. 10484615 1999
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE E2 protected LDLR-/- female mice from atherosclerosis and this protection was independent of changes in plasma cholesterol levels. 10224158 1999
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE Increased atherosclerosis in ApoE and LDL receptor gene knock-out mice as a result of human cholesteryl ester transfer protein transgene expression. 10195942 1999
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE Nonparametric analysis indicated significant linkage of the LDL receptor gene locus to aortic (p < 0.00005) and to aorto-coronary calcified atherosclerosis (p < 0.00001). 11246453 1999
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 GeneticVariation disease BEFREE To investigate the effects of its structural changes on lipoprotein metabolisms and its correlation with atherosclerosis, we characterized this mutant apoE with respect to its receptor-binding, heparin-binding, and lipoprotein association.In a competitive binding assay, apoE7. dimyristoylphosphatidylcholine displayed a defective binding to the low density lipoprotein (LDL) receptor. 9925654 1999
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE Administration of antibody against CD154 to low-density lipoprotein receptor-deficient mice has been shown to reduce atherosclerosis and decrease T-lymphocyte and macrophage content; however, only initial lesions were studied. 10546000 1999
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.700 Biomarker disease BEFREE Effect of human scavenger receptor class A overexpression in bone marrow-derived cells on lipoprotein metabolism and atherosclerosis in low density lipoprotein receptor knockout mice. 10974047 2000