|
Hypobetalipoproteinemias
|
0.200 |
Biomarker
|
disease |
BEFREE |
"Primary hypobetalipoproteinemia" refers to an eclectic group of inherited lipoprotein disorders characterized by low concentrations of or absence of low-density lipoprotein cholesterol and apolipoprotein B in plasma.
|
24781598 |
2014 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Hypobetalipoproteinemia and abetalipoproteinemia.
|
24751931 |
2014 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.
|
9508071 |
1998 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We showed that heterozygotes for a new mutation in APOB have hypobetalipoproteinemia, despite a reduced binding of LDL to the LDL receptor.
|
15797858 |
2005 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination.
|
2567736 |
1989 |
|
Hypobetalipoproteinemias
|
0.200 |
AlteredExpression
|
disease |
LHGDN |
Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.
|
15585207 |
2005 |
|
Hypobetalipoproteinemias
|
0.200 |
Biomarker
|
disease |
BEFREE |
Apolipoprotein B-31 is the shortest of the mutant apo B species to be identified in the plasma of a subject with hypobetalipoproteinemia.
|
2312735 |
1990 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55).
|
9543100 |
1998 |
|
Hypobetalipoproteinemias
|
0.200 |
Biomarker
|
disease |
BEFREE |
The control group showed a significantly higher apolipoprotein B (apoB) concentration compared with patients with chronic hepatitis C. Hypobetalipoproteinemia (apo B <0.7 g/L) was found in 27 (24.7%) chronic HCV patients and in five (5.3%) control subjects (p = 0.0002).
|
12809841 |
2003 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The identification of ApoB loss-of-function mutations in type 1 diabetic patients presents innovative cases to study the interaction between hypobetalipoproteinemia and insulin deficiency.
|
25430706 |
2015 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5).
|
11019990 |
2000 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrated that in a cohort of subjects with severe primary hypobetalipoproteinemia the prevalence of ANGPTL3 gene mutations responsible for a combined hypolipidemia phenotype is about 10%, whereas mutations of APOB gene are absent.
|
22247256 |
2012 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia.
|
26323024 |
2015 |
|
Hypobetalipoproteinemias
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
When fed a diet rich in fat and cholesterol, heterozygous mice were protected from diet-induced hypercholesterolemia; these mice, which constitute an animal model for hypobetalipoproteinemia, should be useful for studying the effects of decreased apolipoprotein B expression on atherogenesis.
|
7878058 |
1995 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia.
|
12872264 |
2003 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.
|
19344897 |
2009 |
|
Hypobetalipoproteinemias
|
0.200 |
Biomarker
|
disease |
BEFREE |
Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.
|
3473077 |
1987 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe 2 children with severe hypobetalipoproteinemia found to be homozygous for novel APOB gene mutations.
|
26073401 |
2016 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In vivo metabolism of ApoB, ApoA-I, and VLDL triglycerides in a form of hypobetalipoproteinemia not linked to the ApoB gene.
|
10807747 |
2000 |
|
Hypobetalipoproteinemias
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Genetically modified mice have proven useful for investigating the genetic and environmental factors affecting atherogenesis, for defining apoB structure/function relationships, for understanding the regulation of the apoB gene expression in the intestine, for defining the "physiologic rationale" for the existence of the two different forms of apoB (apoB48 and apoB100) in mammalian metabolism and for providing mechanistic insights into the human apoB deficiency syndrome, familial hypobetalipoproteinemia.
|
10064308 |
1999 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.
|
27179706 |
2016 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.
|
14732481 |
2004 |
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of truncated forms of apolipoprotein B in a kindred with compound heterozygous hypobetalipoproteinemia.
|
2614276 |
1989 |
|
Hypobetalipoproteinemias
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia.
|
17158591 |
2007 |