Familial hypobetalipoproteinemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
Familial hypobetalipoproteinemia
|
0.500 |
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 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
A truncated species of apo-B was identified in the plasma lipoproteins of members of a kindred with familial hypobetalipoproteinemia.
|
3399894 |
1988 |
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 |
ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia.
|
1770316 |
1991 |
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 |
A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa.
|
1424233 |
1992 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report the presence of two distinct defects of the gene for apolipoprotein B, one resulting in a new truncated variant, apoB-61, in a kindred with familial hypobetalipoproteinemia (FHB).
|
1619363 |
1992 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
More than 20 different mutations in the apoB gene have been shown to cause familial hypobetalipoproteinaemia, a condition characterized by abnormally low plasma concentrations of apoB and LDL cholesterol.
|
1619387 |
1992 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, a single nucleotide transversion in the apoB gene results in a unique truncated apoB species, apoB-83, and the clinical syndrome of familial hypobetalipoproteinemia.
|
1527480 |
1992 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Familial hypobetalipoproteinemia represents a heterogeneous group of genetic defects in which the concentrations of plasma apolipoprotein B and apo-B-containing lipoproteins VLDL and LDL are abnormally low.
|
8311419 |
1993 |
Familial hypobetalipoproteinemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We believe these reduced production rates largely account for the lower than expected levels of apoB-100 and LDL cholesterol in the plasma of FHBL heterozygotes.
|
7749818 |
1995 |
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 |
AlteredExpression
|
disease |
BEFREE |
Thus, diverse physiologic mechanisms are responsible for the low apoB levels in these two different, genetically determined forms of FHBL.
|
9101440 |
1997 |
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 |
AlteredExpression
|
disease |
BEFREE |
Individuals with apoB levels in the 5th centile for their age and sex were considered as affected with FHBL.
|
9508071 |
1998 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
These studies have helped in 1) generating new mouse models suitable for investigating the genetic and environmental factors affecting atherogenesis; 2) providing systems for investigating apoB structure/function relationships; 3) understanding the regulation of apoB gene expression in the intestine; 4) delineating a critical role for apoB expression in mouse embryonic development; 5) yielding insights into the "physiologic rationale" for the existence of the two different forms of apoB, apoB-48 and apoB-100, in mammalian metabolism; and 6) providing basic insights into mechanisms involved in the human apoB deficiency syndrome, familial hypobetalipoproteinemia.
|
9555937 |
1998 |
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 |
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 |