|
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 |
|
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 |
|
rs573658040
|
|
|
0.100 |
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 |
|
rs121918393
|
|
|
0.830 |
GeneticVariation |
BEFREE |
R136S carriers showed dysbetalipoproteinemia, while the lipid phenotype of p.Leu149del carriers was IIa or IIb.
|
22481068 |
2012 |
|
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 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity.
|
17593519 |
2007 |
|
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 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This finding supports the notion that although apoE 2*(Arg136-->Cys) mutation is perhaps not sufficient to cause FD itself, the presence of other genetic and/or environmental factors can lead to the phenotypic expression of the disease in the carriers.
|
14535841 |
2003 |
|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The apolipoprotein E2 (Lys146-->Gln) variant is associated with a dominant form of familial dysbetalipoproteinemia.
|
10894820 |
2000 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We described the mutation apo E2* (Arg136 --> Cys) in a family with elevated lipid levels, but there was no confirmation of the connection between this mutation and type III hyperlipoproteinemia or hyperlipoproteinemia at all.
|
11043917 |
2000 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
As the dominant apoE variants known so far are characterized by more pronounced reductions of heparin binding, we suggest that apoE2 (Arg136 --> Cys) is not associated with dominant expression of type III hyperlipoproteinemia.
|
9548597 |
1998 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The apolipoprotein E2 (Arg145Cys) mutation causes autosomal dominant type III hyperlipoproteinemia with incomplete penetrance.
|
9157949 |
1997 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The apolipoprotein E2 (Arg145Cys) mutation causes autosomal dominant type III hyperlipoproteinemia with incomplete penetrance.
|
9157949 |
1997 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (arg-158-->Cys).
|
8682150 |
1996 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Apolipoprotein E2 (Arg-136-->Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia.
|
8682150 |
1996 |
|
rs11542037
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Apolipoprotein E1-Hammersmith (Lys146-->Asn;Arg147-->Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia.
|
8830931 |
1996 |
|
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 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Restriction isotyping of apolipoprotein E R145C in type III hyperlipoproteinemia.
|
7735921 |
1995 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Restriction isotyping of apolipoprotein E R145C in type III hyperlipoproteinemia.
|
7735921 |
1995 |
|
rs1466963971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a new apolipoprotein E variant (E2 Arg142-->Leu) in type III hyperlipidemia.
|
7772063 |
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 |
|
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 |
|
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 |