|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Apolipoprotein B allotypes MB19(1) and MB19(2) in subjects with coronary artery disease and hypercholesterolemia.
|
2434069 |
1987 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Thus, it appears that the mutation in the codon for amino acid 3500 (CGG----CAG), a CG mutational "hot spot," defines a minor apoB-100 allele associated with defective low density lipoproteins and hypercholesterolemia.
|
2563166 |
1989 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.
|
2280177 |
1990 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the codon for apo B-100 amino aid 3,500 is associated with hypercholesterolemia.
|
1977530 |
1990 |
|
Hypercholesterolemia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Family members homozygous for CETP deficiency (n = 10) had moderate hypercholesterolemia (mean total cholesterol level [+/- SD], 7.01 +/- 0.83 mmol per liter), markedly increased levels of HDL cholesterol (4.24 +/- 1.01 mmol per liter) and apolipoprotein A-I, and decreased levels of low-density lipoprotein cholesterol (1.99 +/- 0.80 mmol per liter) and apolipoprotein B.
|
2215607 |
1990 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial defective apolipoprotein (apo) B-100 is a genetic disorder presenting with hypercholesterolaemia and abnormal low-density lipoprotein (LDL) that binds poorly to LDL receptors.
|
1936106 |
1991 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
CTD_human |
The present data suggest that the combination of these clinical features is no longer appropriate for the diagnosis of LDL-receptor-defective FH, but may be a common feature of a defective LDL receptor pathway originating either from defective LDL receptors or from malfunctioning ligand apo B-100.
|
1600334 |
1992 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have shown that one cause of primary moderate hypercholesterolaemia is familial defective apolipoprotein B-100 (FDB), a condition in which a mutation in apolipoprotein B-100 (apo B-100) causes low-density lipoproteins (LDL) to bind poorly to LDL receptors.
|
1453124 |
1992 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Frequency of the XbaI, EcoRI, PvuII and MspI polymorphisms of the apolipoprotein B gene in relation to hypercholesterolaemia in the general population.
|
7685667 |
1993 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The presence of mutant apo B-100 in low-density lipoproteins (LDL) markedly reduces their affinity for the LDL receptor, leading to hypercholesterolaemia and increased proneness to coronary artery disease.
|
8141833 |
1993 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A rapid detection of the Arg3500-->Gln mutation of human apolipoprotein B-100 is of particular interest because of its prevalence in familial forms of hypercholesterolemia.
|
7969202 |
1994 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To date, the only known apolipoprotein B (apo B) mutation causing hypercholesterolemia is the apo B 3500 Arg-->Gln or the familial defective apo B (FDB) mutation.
|
7833952 |
1994 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The heterogeneity of association of polymorphic alleles in the apolipoprotein B gene to complex traits like hypercholesterolemia and ischemic heart disease in this study could explain why in most studies the X+ allele has been associated with higher cholesterol levels, whereas the X- allele has been associated with symptomatic atherosclerosis.
|
8004802 |
1994 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Knockout of the mouse apolipoprotein B gene results in embryonic lethality in homozygotes and protection against diet-induced hypercholesterolemia in heterozygotes.
|
7878058 |
1995 |
|
Hypercholesterolemia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Hypercholesterolemia with cholesterol-enriched LDL and normal levels of LDL-apolipoprotein B. Effects of the step I diet and bile acid sequestrants on the cholesterol content of LDL.
|
8624773 |
1996 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The Arg3500-->Glu mutation, which is the only relevant mutation in the apolipoprotein B-100 gene causing hypercholesterolemia, was detected by a modified PCR and restriction enzyme digestion.
|
8767447 |
1996 |
|
Hypercholesterolemia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Apolipoprotein B mRNA editing protein: a tool for dissecting lipoprotein metabolism and a potential therapeutic gene for hypercholesterolemia.
|
8767453 |
1996 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial defective apolipoprotein (apo) B-100 (FDB) is an autosomal codominant disorder, which may be associated with hypercholesterolaemia.
|
8888978 |
1996 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Familial defective apolipoprotein (apo) B-100 (FDB), a condition that may give rise to hypercholesterolemia, is caused by mutations around codon 3500 of the apo B gene.
|
9299944 |
1997 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial ligand-defective apolipoprotein (apo) B-100 (FDB) is an autosomal codominant disorder which may give rise to hypercholesterolaemia.
|
9105560 |
1997 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that the apo B-100 Arg(3500)--> Gln mutation does not appear to be a significant factor contributing to moderate hypercholesterolemia in a Chinese population residing in Canada.
|
9430367 |
1997 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The Arg-to-Trp substitution at codon 3500 in the apolipoprotein (apo) B-100 gene is established as a cause of familial defective apo B-100 (FDB), a functional mutation, resulting in reduced LDL receptor binding and manifest hypercholesterolemia.
|
9191540 |
1997 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The surprising result that only two mutations of apoB in the receptor-binding domain (Arg 3500 Gln and Arg 3531 Cys) were associated with defective LDL binding, hypercholesterolemia, or CAD is in stark contrast with familial hypercholesterolemia, where nearly 150 mutations of the LDL receptor have been described that disrupt its function.
|
9254062 |
1997 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
In contrast, in apoE-/- mice, inactivation of apobec-1 caused a massive increase (from <0.5 to 55.5+/-16.4 mg/dL) in plasma apoB-100 concentration but an approximately 55% reduction in hypercholesterolemia due to partial amelioration of the marked VLDL+IDL elevation.
|
9598833 |
1998 |