LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hyperlipoproteinemia Type IIa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor. 236556 1975
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE Some patients with familial hypercholesterolemia (FHC, type II) are highly responsive to the cholesterol-lowering effect of clofibrate, while others are not only resistant to this effect but may even show an increase in plasma beta-lipoproteins. 193524 1977
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 AlteredExpression disease BEFREE Genetics of the low density lipoprotein receptor. Diminished receptor activity in lymphocytes from heterozygotes with familial hypercholesterolemia. 205553 1978
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 Biomarker disease BEFREE In this report we compare the cord blood lipoproteins of a newborn boy homozygote who has low density lipoprotein (LDL) receptor-defective familial hypercholesterolemia (FH) with the lipoproteins from cord blood of normal newborns. 7400306 1980
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 AlteredExpression disease BEFREE Median 125I-LDL association levels in these groups appeared to be in agreement with hypothesis that two different geno-types in HC heterozygotes and three in non-HCs determined LDL receptor activity. 6273032 1981
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 Biomarker disease BEFREE The LDL receptor-dependent 125I-LDL association values for the HC heterozygous individuals clustered into four groups. 6273031 1981
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 Biomarker disease BEFREE Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia. 6271765 1981
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia. 6291781 1982
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE The LDL receptor locus in familial hypercholesterolemia: multiple mutations disrupt transport and processing of a membrane receptor. 6299582 1983
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE In contrast, similarly incubated LDL receptor-negative fibroblasts (from a patient with the homozygous form of familial hypercholesterolemia) only increased from 18 to 39 ng of tocopherol per mg. Estimation of the amount of LDL degraded from the cellular tocopherol uptake by normal cells yielded values virtually identical to the actual values of protein degradation as measured using 125I-LDL. 6486081 1984
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE The molecular size of the plasma LDL (low density lipoprotein) receptor synthesized by cultured fibroblasts from a patient with the internalization-defective form of familial hypercholesterolemia (FH 274) was smaller by 10,000 daltons than the size of the normal LDL receptor. 3155573 1985
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE Clinical studies in a kindred with a kinetic LDL receptor mutation causing familial hypercholesterolemia. 4061492 1985
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. 3012527 1986
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease UNIPROT The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. 3955657 1986
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 Biomarker disease BEFREE Genomic DNA encompassing the terminal exons of the gene for the low density lipoprotein (LDL) receptor was isolated from J.D., a patient with familial hypercholesterolemia whose receptor fails to cluster in coated pits. 3955657 1986
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE A similar mutation, detected by S1 nuclease mapping of LDL receptor messenger RNA, occurred in a patient with familial hypercholesterolemia whose receptor also fails to be transported to the cell surface. 3010466 1986
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 Biomarker disease BEFREE Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. 3020025 1986
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect. 2887506 1987
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 Biomarker disease BEFREE Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. 3627182 1987
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 Biomarker disease BEFREE Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. 3818645 1987
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. 3815525 1987
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE Defects in the gene encoding the LDL receptor, which occur in patients with familial hypercholesterolemia, elevate the plasma LDL level and produce premature coronary atherosclerosis. 3621516 1987
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE A cDNA probe for the low density lipoprotein (LDL) receptor gene was used to screen DNA samples from 52 unrelated Finnish patients with the heterozygous form of familial hypercholesterolemia (FH) and 51 healthy controls. 2895023 1988
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease BEFREE Furthermore, the association of an additional TaqI 1.5-kb band with a mutant LDL receptor gene was observed in another family with FH in which the proband was homozygous for all of the seven RFLPs. 2901393 1988
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation disease UNIPROT Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia. 3263645 1988