|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-function mutations in ANGPTL3 gene.
|
28733173 |
2018 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied subjects from 19 families with ANGPTL3 mutations and subjects with familial combined hypobetalipoproteinemia type 1 (FHBL1) due to truncated apolipoprotein B (apoB) species.
|
28633452 |
2017 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular description of familial defective APOB-100 in Malaysia.
|
23775634 |
2013 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolaemia is genetically heterogeneous, but most commonly (approximately 93%) caused by mutations in low-density lipoprotein receptor (LDLR), where the disease is known as familial hypercholesterolaemia (FH), or apolipoprotein B-100 (APOB) (approximately 5.5%), where the disease is known as familial defective APOB (FDB), while in approximately 2% of patients the mutation is in the proprotein convertase subtilisin/kexin type 9 gene.
|
20736250 |
2010 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B.
|
19060634 |
2009 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.
|
18279815 |
2008 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
R3500W, rather than R3500Q, could be the principle mutation responsible for familial defective apolipoprotein B in Taiwanese.
|
17964958 |
2007 |
|
Familial (FPAH)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Associations of polymorphisms in the angiotensin I-converting enzyme (ACE), apolipoprotein B (APOB) and apolipoprotein E (APOE) genes with hypertension and variations in lipid serum levels were evaluated in 184 Afro-Brazilians with a familial history of coronary artery disease (CAD).
|
15543563 |
2004 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Comparison of apolipoprotein B metabolism in familial defective apolipoprotein B and heterogeneous familial hypercholesterolemia.
|
11947895 |
2002 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Increased production of HDL ApoA-I in homozygous familial defective ApoB-100.
|
10894819 |
2000 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Numerous different molecular defects have been identified in the LDL receptor (LDLR) and few specific mutations in the apolipoprotein B (APOB) gene resulting in familial hypercholesterolaemia and familial defective apoB-100 respectively.
|
10952765 |
2000 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mechanisms other than lipoprotein lipase, cholesteryl ester transfer protein activities, and an apolipoprotein B gene polymorphism may be responsible for the resistance to lowering of plasma total and low-density lipoprotein cholesterol levels with bezafibrate treatment in familial combined hyperlipidemic patients with impaired glucose tolerance.
|
9607127 |
1998 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B.
|
9712531 |
1998 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Detection of the apolipoprotein B-100 arg(3500) > gl mutation in familial defective apoB-100 by temperature-gradient gel electrophoresis.
|
8767448 |
1996 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
To assess whether very low concentrations of LDL affected lipoprotein(a) [Lp(a)] concentrations and apo(a) associations with lipoproteins, we studied Lp(a) levels and associations in heterozygous subjects with familial hypobeta-lipoproteinemia FHBL) associated with several truncated forms of apoB-100, ranging from apoB-31 to apoB-89.
|
7489238 |
1995 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The Arg3531-->Cys mutation is the second reported cause of familial ligand-defective apoB.
|
7883971 |
1995 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Common familial lipid disorders associated with premature heart disease include familial lipoprotein(a) excess, familial dyslipidemia (elevated triglycerides and decreased HDL cholesterol), familial combined hyperlipidemia (elevations of LDL cholesterol and triglycerides, and often decreased HDL cholesterol), familial hypoapobetalipoproteinemia (elevated apolipoprotein B levels), familial hypoalphalipoproteinemia (low HDL cholesterol levels), and familial hypercholesterolemia (elevated LDL cholesterol levels).
|
7802728 |
1994 |
|
Familial (FPAH)
|
0.100 |
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 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Effect of apolipoprotein E polymorphism and XbaI polymorphism of apolipoprotein B on response to lovastatin treatment in familial and non-familial hypercholesterolaemia.
|
1940775 |
1991 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
This disorder is called familial defective apo B-100, and it is probably a cause of premature atherosclerotic disease.
|
1977530 |
1990 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This report describes the metabolism of apolipoprotein B-containing lipoproteins in seven familial hypercholesterolemic (FH) homozygotes and compares the results to the values obtained from five healthy control subjects.
|
2715722 |
1989 |