|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia.
|
15772090 |
2005 |
|
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 |
GeneticVariation
|
disease |
LHGDN |
To seek apolipoprotein B (apoB) gene mutations in children and adolescents presenting to a lipid clinic with hypercholesterolemia and suspected of familial defective apoB (FDB), employing a new automated denaturing high performance liquid chromatography (DHPLC) method.
|
18222178 |
2008 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We identified a set of Mendelian variants that co-occur in individuals with BD more frequently than their unaffected family members, including the R3527Q mutation in APOB associated with hypercholesterolemia.
|
30315151 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.
|
2280177 |
1990 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Familial defective apolipoprotein (apo) B-100 is an autosomal codominant disorder associated with hypercholesterolemia and an increased risk of coronary artery disease.
|
11028773 |
2000 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Ligand-defective apolipoprotein (apo) B-100 is a major cause of hypercholesterolemia.
|
10388479 |
1999 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study.
|
11568510 |
2001 |
|
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 |
Rare mutations in APOB cause hypercholesterolemia.
|
16030169 |
2005 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
None of the patients were carriers of mutations in the LDL receptor (Trp23Stop, Trp66Gly, Trp556Ser, 313+1G --> A, 1846 - 1G --> A) or the apolipoprotein B gene (Arg3500Gln, Arg3500Trp, Arg3531Cys) associated with hypercholesterolemia.
|
10529757 |
1999 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
RGD |
Present study was aimed to reveal the role of Se supplementation in modulation of hypercholesterolemia-induced changes in apolipoprotein B (apoB) and 3-hydroxy 3-methylglutaryl co-enzyme A (HMG-CoA) reductase expression during experimental hypercholesterolemia in Sprague-Dawley male rats.
|
16581047 |
2006 |
|
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 |
Biomarker
|
disease |
BEFREE |
Apolipoprotein B allotypes MB19(1) and MB19(2) in subjects with coronary artery disease and hypercholesterolemia.
|
2434069 |
1987 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
These studies highlight the effectiveness of using iPSCs to screen for potential treatments for inborn errors of hepatic metabolism and suggest that cardiac glycosides could provide an approach for reducing hepatocyte production of apoB and treating hypercholesterolemia.
|
28388428 |
2017 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH.
|
30270084 |
2018 |
|
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 |
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.
|
11031227 |
2000 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in apolipoprotein B (APOB) may reduce binding of low density lipoprotein (LDL) to the LDL receptor and cause hypercholesterolemia.
|
15797858 |
2005 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Hypercholesterolemia is the main phenotype of Familial Defective Apolipoprotein B and Familial Hypercholesterolemia that are caused by mutations at the apolipoprotein (apo) B and LDL receptor genes, respectively.
|
11170232 |
2001 |
|
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 |
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 |