|
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis of hypobetalipoproteinemia: an ENID review.
|
17570373 |
2007 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
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
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
|
16250003 |
2005 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor.
|
15797858 |
2005 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
Biomarker
|
disease |
CLINGEN |
A new but frequent mutation of apoB-100-apoB His3543Tyr.
|
15135245 |
2004 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
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
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
|
11238294 |
2001 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.
|
11115503 |
2001 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial defective apolipoprotein B-100 (FDB) is a genetic disorder caused by a substitution of glutamine for arginine at residue 3500 of the apolipoprotein B-100 molecule.
|
10984082 |
2000 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
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
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL.
|
10388479 |
1999 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial defective apolipoprotein B-100 (FDB) R3500Q is an autosomal co-dominant disorder caused by the substitution of glutamine for arginine at amino acid residue 3500 of the apolipoprotein B-100 gene.
|
10795369 |
1999 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.
|
9702952 |
1998 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
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
|
0.800 |
Biomarker
|
disease |
CLINGEN |
The Arg3500Gln mutation in the apolipoprotein B gene, which is responsible for familial defective apolipoprotein B-100 and is present in approximately 1 in 1000 persons in Denmark, causes severe hypercholesterolemia and increases the risk of ischemic heart disease.
|
9603795 |
1998 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100.
|
9486979 |
1998 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele.
|
9430367 |
1997 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two specific mutations in the APOB gene--R3500Q and R3531C--induce FDB.
|
9259199 |
1997 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
Biomarker
|
disease |
BEFREE |
These data show that the in vivo metabolism of apo B-100-containing lipoproteins in FDB is different from that in familial hypercholesterolemia, in which LDL receptors are defective.
|
9081691 |
1997 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.
|
9259199 |
1997 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype.
|
9191540 |
1997 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK.
|
9105560 |
1997 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
Biomarker
|
disease |
BEFREE |
The two hyperapoB definition criteria (high apoB and low LDL-C/apoB ratio) were studied with multiple linear regression analyses.
|
8724114 |
1996 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial defective apolipoprotein B-100 (FDB) is caused by a point mutation in exon 26 of the apolipoprotein B gene leading to a decreased binding to the LDL-receptor.
|
8767448 |
1996 |
|
Hyperlipoproteinemia Type IIb
|
0.800 |
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 |