|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The apolipoprotein E2 (Lys146-->Gln) variant is associated with a dominant form of familial dysbetalipoproteinemia.
|
10894820 |
2000 |
|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu).
|
7635945 |
1995 |
|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Family analyses of the APOE*2(Lys146-->Gln) FD subjects showed that the apo E to apo B ratio in the d < 1.019 g/ml lipoprotein fraction of allele carriers is 3.5 times as high as that found in non-carriers (2.8 vs. 0.8, by wt.).
|
7980718 |
1994 |
|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Variable expression of familial dysbetalipoproteinemia in apolipoprotein E*2 (Lys146-->Gln) Allele carriers.
|
8083367 |
1994 |
|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
ApoE mutations that occur in the binding domain, e.g., apoE2 (Lys146----Gln) have a direct effect on the ligand-receptor binding and, in these individuals, FD is inherited in an autosomal dominant way.
|
1588125 |
1992 |
|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Family studies of the three probands heterozygous for the E*2(lys146----gln) allele showed that this rare allele predisposes to FD with high penetrance.
|
2313204 |
1990 |
|
rs121918393
|
|
|
0.830 |
GeneticVariation |
BEFREE |
R136S carriers showed dysbetalipoproteinemia, while the lipid phenotype of p.Leu149del carriers was IIa or IIb.
|
22481068 |
2012 |
|
rs121918393
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia.
|
12929622 |
2003 |
|
rs121918393
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia.
|
3038959 |
1987 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
In an initiated study of Qataris, we observed that 17% of the African-derived genetic subgroup were heterozygotes for a rare Arg145Cys (R145C) variant that functions as a dominant trait with incomplete penetrance associated with type III hyperlipoproteinemia.
|
24239320 |
2014 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The apolipoprotein E2 (Arg145Cys) mutation causes autosomal dominant type III hyperlipoproteinemia with incomplete penetrance.
|
9157949 |
1997 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Restriction isotyping of apolipoprotein E R145C in type III hyperlipoproteinemia.
|
7735921 |
1995 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
In comparison, beta-VLDL+apoE(Arg142-->Cys), beta-VLDL+apoE(Arg145-->Cys), and beta-VLDL+apoE-Leiden, which are associated with dominant type III hyperlipoproteinemia, bound more poorly.
|
8175773 |
1994 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia.
|
1352296 |
1992 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
|
1674745 |
1991 |
|
rs387906567
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We have used adenovirus-mediated gene transfer in apolipoprotein (apo)E(-/-) mice to elucidate the molecular etiology of a dominant form of type III hyperlipoproteinemia (HLP) caused by the R142C substitution in apoE4.
|
20861163 |
2011 |
|
rs387906567
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In comparison, beta-VLDL+apoE(Arg142-->Cys), beta-VLDL+apoE(Arg145-->Cys), and beta-VLDL+apoE-Leiden, which are associated with dominant type III hyperlipoproteinemia, bound more poorly.
|
8175773 |
1994 |
|
rs429358
|
|
|
0.730 |
GeneticVariation |
BEFREE |
None of the family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) and/or APOE*2(Val-236-->Glu) exhibited lipoprotein abnormalities characteristic of familial dysbetalipoproteinaemia, although three family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) showed hypertriglyceridaemia.
|
8156744 |
1994 |
|
rs387906567
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Dominant expression of type III hyperlipoproteinemia associated with apoE phenotype E3/3 is caused by heterozygosity for a human apoE variant, apoE3(Cys112----Arg, Arg142----Cys).
|
1730728 |
1992 |
|
rs429358
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Dominant expression of type III hyperlipoproteinemia associated with apoE phenotype E3/3 is caused by heterozygosity for a human apoE variant, apoE3(Cys112----Arg, Arg142----Cys).
|
1730728 |
1992 |
|
rs429358
|
|
|
0.730 |
GeneticVariation |
BEFREE |
This explains the significant effect of the apoE gene locus on the variability of plasma lipoprotein concentrations and moreover the implication of apoE alleles in the aetiology of multifactorial forms of hyperlipidaemia e.g. familial type III hyperlipidaemia (apoE2; arg158----cys) and polygenic hypercholesterolaemia (apoE4; cys112----arg).
|
3141688 |
1988 |
|
rs201672011
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia.
|
1352296 |
1992 |
|
rs201672011
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
|
1674745 |
1991 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Compound heterozygotes for a novel mutation, apo E1 Nagoya (Arg142Ser) and Apo E2 (Arg158Cys), with severe type III hyperlipoproteinemia and familial hypercholesterolemia.
|
24953047 |
2014 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ApoE2 which differs from apoE3 by the single amino acid substitution Arg158Cys located near the LDLR recognition site exhibits impaired binding to the receptor and an inability to promote clearance of TG-rich lipoprotein remnant particles; this isoform is associated with Type-III hyperlipoproteinemia.
|
25328986 |
2014 |