Hyperlipoproteinemia Type IIb
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, the elevation of plasma low-density lipoprotein cholesterol observed in FDB is frequently milder than that of FH due to mutations in LDLR, and FDB is subsequently underdiagnosed according to standard FH diagnostic criteria.
|
27919345 |
2017 |
Hyperlipoproteinemia Type IIb
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations within the LDL receptor and/or apolipoprotein B-100 genes compromising this process may lead to congenital monogenic hypercholesterolaemias known as familial hypercholesterolaemia or familial defective apolipoprotein B-100.
|
16502360 |
2006 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
CTD_human |
[Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients].
|
12673584 |
2003 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
CTD_human |
Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients.
|
12477733 |
2003 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
CTD_human |
"A ""de novo"" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia."
|
12009418 |
2002 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
CTD_human |
Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
|
12522687 |
2002 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
BEFREE |
Familial defective apolipoprotein B-100 (FDB) is a genetic disorder characterized by a decreased binding of low-density lipoprotein (LDL) particles to the LDL receptor due to defective apo B-100.
|
12079884 |
2002 |
Hyperlipoproteinemia Type IIb
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
By screening two groups of probands, clinically diagnosed as having Familial Hypercholesterolemia (700 from mainland Italy and 305 from Sicily), the prevalence of familial defective apolipoprotein B-100 due to Arg3500Gln was found to be very low (0.28% and 0.65%, respectively).
|
11833852 |
2001 |
Hyperlipoproteinemia Type IIb
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Existence of both FH and FDB should be considered in families with LDL-receptor mutations in some but not all individuals with hypercholesterolemia or when some individuals in families with FH exhibit exaggerated hypercholesterolemia.
|
11238294 |
2001 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
CTD_human |
Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.
|
11600564 |
2001 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
CTD_human |
Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
|
10952765 |
2000 |
Hyperlipoproteinemia Type IIb
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A cohort of 236 apparently unrelated patients with clinical features of FH was screened for a common mutation causing familial defective apolipoprotein B-100 (FDB) and seven low-density lipoprotein receptor (LDLR) gene defects known to be relatively common in South Africans with FH.
|
10422804 |
1999 |
Hyperlipoproteinemia Type IIb
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LDL receptor (LDLR) or the apolipoprotein B-100 genes causing familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB), two of the most frequent inherited diseases, are the underlying genetic defects in a small proportion of patients suffering from premature atherosclerotic heart disease.
|
9727746 |
1998 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
CTD_human |
Expanded-dose simvastatin is effective in homozygous familial hypercholesterolaemia.
|
9430375 |
1997 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
BEFREE |
Patients with LDLR defects had a significantly higher risk of myocardial infarction, coronary artery bypass graft, positive coronary angiography, atherosclerotic plaques in the carotid arteries and CAD (p<0.01) than patients with FDB.
|
9360938 |
1996 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
BEFREE |
The LDL of FDB heterozygotes had 40% (n = 10) the affinity of normal LDL (n = 12) for the LDL receptor on cultured fibroblasts, and 55% (n = 6) of normal LDL (n = 6) for that on HepG2 cells.
|
8831932 |
1996 |
Hyperlipoproteinemia Type IIb
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In probands, segregation analysis complemented by DNA sequencing identified heterozygous defective alleles and mutations on two nonallelic loci for two monogenic lipid disorders: familial hypercholesterolemia at the low density lipoprotein (LDL) receptor locus and familial defective apolipoprotein B-100 at the locus encoding its ligand, apolipoprotein B-100.
|
8723684 |
1996 |
Hyperlipoproteinemia Type IIb
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The affinity of low-density lipoproteins and of very-low-density lipoprotein remnants for the low-density lipoprotein receptor in homozygous familial defective apolipoprotein B-100.
|
7661885 |
1995 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
BEFREE |
Although, hypercholesterolaemia segregated with haplotypes both at the apolipoprotein B and low density lipoprotein (LDL) receptor loci in the proband's family, LDL receptor analysis revealed that the proband was not doubly heterozygous for FDB and FH.
|
7638555 |
1995 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
BEFREE |
Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited disorder characterized by decreased binding of low density lipoprotein (LDL) to the LDL receptor due to a substitution of glutamine for arginine in residue 3500 of apolipoprotein B-100.
|
8187806 |
1994 |
Hyperlipoproteinemia Type IIb
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial defective apolipoprotein B-100 (FDB) is caused by a single G-to-A substitution at nucleotide 10,708 leading to an arginine to glutamine change at amino acid 3,500 of the apolipoprotein B-100 and thus, a reduced binding of the apolipoprotein B to the low density lipoprotein (LDL) receptor.
|
8006512 |
1994 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
BEFREE |
Frostegård et al.(J Lipid Res 1990;31:37-44) demonstrated that the proliferation of the human monocyte cell line U937 is critically dependent on the uptake of low-density lipoprotein (LDL) via the apo B, E (LDL) receptor, a characteristic that was used to detect patients with familial defective apolipoprotein B-100 (FDB).
|
8131274 |
1994 |
Hyperlipoproteinemia Type IIb
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited disorder associated with hypercholesterolemia, in which substitution of the amino acid glutamine for arginine at position 3500 in the apoprotein B molecule results in LDL particles which bind poorly to the LDL receptor.
|
8457260 |
1993 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
BEFREE |
Familial defective apolipoprotein B-100 (FDB) is characterized by a decreased affinity of low density lipoprotein (LDL) to the LDL receptor resulting in a dominantly inherited increase of plasma LDL.
|
8509718 |
1993 |
Hyperlipoproteinemia Type IIb
|
0.400 |
Biomarker
|
disease |
BEFREE |
The binding of very low density lipoprotein remnants to the low density lipoprotein receptor in familial defective apolipoprotein B-100.
|
8257452 |
1993 |