Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We scanned for ANGPTL3 mutations in 4 unrelated Spanish families with FHBL criteria but negative for mutations in APOB.
|
22155345 |
2012 |
Familial hypobetalipoproteinemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Familial hypobetalipoproteinemia is a disorder of lipid metabolism characterized by extremely low plasma levels of apolipoprotein B as well as low levels of total and low-density lipoprotein cholesterol.
|
19773654 |
2009 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Multicompartmental modeling analysis showed that the delay time of apoB-48 was shorter and that apoB-48 production was decreased in FHBL subjects compared with controls.
|
17213276 |
2007 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia.
|
1770316 |
1991 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Truncation-causing mutations in the APOB gene cause familial hypobetalipoproteinaemia, whereas mutations in MTP result in abetalipoproteinaemia; both rare conditions are characterised by marked hypocholesterolaemia.
|
16390683 |
2005 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene.
|
1995762 |
1991 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.
|
2022744 |
1991 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.
|
12124991 |
2002 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Other mutations in APOB can cause familial hypobetalipoproteinemia, characterized by hypocholesterolemia and resistance to atherosclerosis.
|
15308601 |
2004 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.
|
26073401 |
2016 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
However, linkage of FHBL to the apoB gene was ruled out in 2 kindreds reported to date, and the genetic and metabolic bases for FHBL remain unknown.
|
10807747 |
2000 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
FHBL without truncated apoB is a heterogeneous disease from a metabolic and a genetic perspective.
|
21502677 |
2011 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
In subjects with familial hypobetalipoproteinemia heterozygous for truncated forms of apolipoprotein B, both apoB-100 and the truncated forms are produced at lower than expected rates.
|
10224159 |
1999 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Therefore, we studied the in vivo kinetics of very-low-density lipoprotein (VLDL) triglycerides and VLDL apoB-100 simultaneously in 7 FHBL heterozygotes from 2 well-characterized kindreds and 7 healthy normolipidemic subjects.
|
10559016 |
1999 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Krul et al.(1) have identified two truncated species of apolipoprotein B-100 in a kindred with familial hypobetalipoproteinemia.
|
2614276 |
1989 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
FHBL due to R463W apoB mutation is a cause of intestinal fat accumulation and postprandial lipid absorption impairment.
|
19344897 |
2009 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
ApoB production rates and IDL- and LDL-apoB FCRs were not different between FHBL subjects and controls.
|
26323024 |
2015 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The purpose of this study was to characterize intestinal apolipoprotein B (apoB) metabolism in subjects with familial hypobetalipoproteinemia (FHBL), where segregation analysis supports linkage to the apoB gene but no apoB truncations are present.
|
9284903 |
1997 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Most mutations that cause FHBL are APOB truncating mutations.
|
21122650 |
2011 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55).
|
9543100 |
1998 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a group of 59 patients with FHBL genotyped for APOB gene mutations, we found three novel splice-site mutations: c.904+4A-->G in intron 8, c.3843-2A-->G in intron 24 and c.4217-1G-->T in intron 25.
|
17158591 |
2007 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The autosomal co-dominant disorder familial hypobetalipoproteinemia (FHBL) may be due to mutations in the APOB gene encoding apolipoprotein B (apoB), the main constituent peptide of chylomicrons, very low and low density lipoproteins.
|
26612772 |
2016 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypobetalipoproteinemia (FHBL) is characterized by mutations in APOB, the majority of these causing protein truncations, and low plasma levels of apolipoprotein (apo) B.
|
26916057 |
2016 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To date, only mutations in APOB encoding prematurely truncated apoB have been found in FHBL.
|
12551903 |
2003 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The intercepts of regression lines of IPAT on liver fat content were similar in controls and 3p21, but higher in apoB-defective FHBL subjects.
|
15877300 |
2005 |