Hypoalphalipoproteinemias
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The transcript levels for six HDL-metabolizing genes (LDLR, LCAT, ABCA1, SCARB1, ZDHHC8, and BMP1) were decreased, while the transcript level of APOA1 gene was increased in mononuclear cells of subjects with hyperalphalipoproteinemia as compared with subjects with hypoalphalipoproteinemia.
|
30430582 |
2018 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several ApoA-I amyloidogenic mutations are also associated with hypoalphalipoproteinemia, low ApoA-I and high-density lipoprotein (HDL)-cholesterol plasma levels; however, subjects affected by ApoA-I-related amyloidosis do not show a higher risk of cardiovascular diseases (CVD).
|
28887204 |
2017 |
Hypoalphalipoproteinemias
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inhibition of apolipoprotein A-I gene by the aryl hydrocarbon receptor: a potential mechanism for smoking-associated hypoalphalipoproteinemia.
|
22727790 |
2012 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
A new APOA1 mutation with severe HDL-cholesterol deficiency and premature coronary artery disease.
|
17991432 |
2008 |
Hypoalphalipoproteinemias
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results demonstrate that Apoa1/c3/a4(-/-) mice display clinical features similar to human apoA-I/C-III/A-IV deficiency (i.e., marked hypoalphalipoproteinemia) and provide further support for the apoa1/c3/a4 gene cluster as a minor susceptibility locus for atherosclerosis in mice.
|
16497661 |
2006 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Intima media thickness studies have provided evidence that hypoalphalipoproteinemia due to mutations in apoA-I, ABCA1, and LCAT is associated with increased progression of atherosclerosis.
|
15767853 |
2005 |
Hypoalphalipoproteinemias
|
0.100 |
Biomarker
|
disease |
BEFREE |
Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia.
|
12048121 |
2002 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, this is the first demonstration of an apoA-I point mutation that decreases LCAT activation, impairs hepatocyte secretion of apoA-I, and makes apoA-I susceptible to proteolysis leading to dominantly inherited hypoalphalipoproteinemia.
|
11292828 |
2001 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, the frequency of hypoalphalipoproteinemia due to a mutant apolipoprotein A-I gene was estimated at 6% (95% CI: 2.4-14.
|
9931341 |
1999 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multiple dysfunctions of two apolipoprotein A-I variants, apoA-I(R160L)Oslo and apoA-I(P165R), that are associated with hypoalphalipoproteinemia in heterozygous carriers.
|
10064737 |
1999 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypoalphalipoproteinemia can result from defects in the genes encoding apolipoprotein A-I, the major protein component of HDL, or enzymes that are critical for the formation/maturation of mature HDL.
|
9253538 |
1997 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Apolipoprotein A-IFin. Dominantly inherited hypoalphalipoproteinemia due to a single base substitution in the apolipoprotein A-I gene.
|
9012641 |
1997 |
Hypoalphalipoproteinemias
|
0.100 |
Biomarker
|
disease |
BEFREE |
Apo AI and apo All production rates in the patient with FED were normal, 11.32 and 2.62 mg/kg x d, respectively, as compared with those in normal subjects, 11.45 +/- 1.23 and 2.68 +/- 0.17 mg/kg x d. These data established that hypoalphalipoproteinemia in FED was caused by marked hypercatabolism of apo AI and apo All.
|
9160810 |
1997 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypoalphalipoproteinaemia and polymorphisms associated with reduced expression of the apolipoprotein A-I gene and resolution of disputed paternity in a large English family.
|
8096444 |
1993 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To reveal the presence of autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene, the apolipoprotein A-I gene was analyzed in a Japanese family with low levels of HDL cholesterol and apolipoprotein A-I.
|
8240372 |
1993 |
Hypoalphalipoproteinemias
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two restriction-fragment-length polymorphisms in the apolipoprotein A-I-C-III gene complex were defined by digestion with PstI and SacI in a family with hypoalphalipoproteinemia.
|
2877676 |
1986 |