|
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We reported the first missense APOB mutation, R463W, in an FHBL kindred (Burnett, J. R., Shan, J., Miskie, B.
|
17588943 |
2007 |
|
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in apolipoprotein B (APOB) are the only confirmed causes of FHBL.
|
16619215 |
2006 |
|
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 |
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 |
|
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The analysis of apoB gene, the main candidate gene in FHBL, revealed that the patient and her mother were heterozygotes for a novel nonsense mutation (Y1220X) predicted to cause the formation of a short truncated apoB (apoB-26.87) not secreted into the plasma.
|
15894400 |
2005 |
|
Familial hypobetalipoproteinemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
It accounted for 15-60% of the variability of plasma LDL cholesterol or apoB levels in our FHBL subjects.
|
15585207 |
2005 |
|
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are inherited disorders of apolipoprotein B (apo B)-containing lipoproteins that result from mutations in apo B and microsomal triglyceride transfer protein (MTP) genes, respectively.
|
15910857 |
2005 |
|
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
In heterozygous apoB-defective FHBL, the hepatic VLDL export system is defective because apoB 100, the product of the normal allele, is produced at approximately 25% of normal rate, and truncated apoB is cleared too rapidly.
|
15818469 |
2005 |
|
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Each mutation showed complete co-segregation with the FHBL phenotype in the families, and statistically significant differences between carriers and non-carriers were found for plasma total, LDL, and HDL cholesterol, triglycerides, and APOB levels, but not for APOA1 levels.
|
15805152 |
2005 |
|
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 |
Biomarker
|
disease |
BEFREE |
In summary, because apoB-defective FHBL imparts heightened susceptibility to liver triglyceride accumulation, increasing IPAT and insulin resistance exert greater liver fat-increasing effects in FHBL.
|
14967820 |
2004 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We present four novel mutations and one previously described mutation in APOB causing FHBL in five families.
|
12872264 |
2003 |
|
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Liver fat was assessed in 21 FHBL with six different apolipoprotein B (apoB) truncations (apoB-4 to apoB-89) and 14 controls by magnetic resonance spectroscopy (MRS).
|
12562873 |
2003 |
|
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 |
Familial hypobetalipoproteinemia (FHBL) is a genetically heterogeneous condition characterized by very low apolipoprotein B (apoB) concentrations in plasma and/or low levels of LDL-cholesterol (LDL-C) with a propensity to developing fatty liver.
|
11893777 |
2002 |
|
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.
|
11590210 |
2001 |
|
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 |
Nonphysiological truncations of apolipoprotein (apo) B-100 cause familial hypobetalipoproteinemia (FHBL) in humans and mice.
|
10893242 |
2000 |
|
Familial hypobetalipoproteinemia
|
0.500 |
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 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
Previously, we reported on five unrelated kindreds with familial hypobetalipoproteinemia in whom although no apoB truncations were detectable in plasma, low apoB levels were nevertheless linked to the apoB gene.
|
10224165 |
1999 |
|
Familial hypobetalipoproteinemia
|
0.500 |
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 |
|
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 |