|
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown that rare mutations in the apolipoprotein B gene (APOB) may result in not only severe hypercholesterolemia and ischemic heart disease but also hypocholesterolemia.
|
18160469 |
2008 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Three mutations were pathogenic (APOB p.R3527Q) or likely pathogenic (LDLR p.C27W, LDLR p.P526S) for hypercholesterolaemia, while the others were either benign or of unknown significance.
|
27497240 |
2016 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.
|
9603795 |
1998 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
|
20506408 |
2010 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Allele and genotype disease association test revealed that APOB rs693 (OR: 2.2 [1.5-3.2], p=0.0001) and CD36 rs1984112 (OR: 3.7 [1.9-7.0], p=0.0002) SNPs were independent risk factors for hypercholesterolemia.
|
23247049 |
2013 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Hypercholesterolemia in homozygous FDB is less severe than in homozygotes for familial hypercholesterolemia.
|
10894819 |
2000 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Two hundred and thirty-five patients selected for having severe hypercholesterolaemia and a family history of cardiovascular disease were classified as FH (57 men and 38 women) or non-FH (84 men and 56 women) according to a genetic analysis of the LDL-R or ApoB genes.
|
12492446 |
2003 |