|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
The CETP inhibitor anacetrapib reproduced the phenotype of homozygous CETP deficiency and showed a highly significant benefit for CAD in the REVEAL trial.
|
30029099 |
2018 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although several genetic abnormalities causing CETP deficiency have been identified in the Japanese subjects with a marked hyperalphalipoproteinemia (HALP), there are many CETP-deficient subjects for whom the genetic abnormalities have not been clarified.
|
8906592 |
1996 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Plasma lipid transfer processes mediated by cholesteryl ester transfer protein (CETP) have a major impact on HDL levels, as revealed in studies of human genetic CETP deficiency and CETP transgenic mice.
|
7830031 |
1995 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To investigate the contribution of CETP deficiency to the cause of HALP (HDL-C> or =1.94 mmol/l, 75 mg/dl), we investigated the CETP activities and the prevalence of genetic CETP mutations among 624 Japanese HALP subjects.
|
12482565 |
2003 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
We reported the pathophysiological significance of CETP by clinical studies with genetic CETP deficiency, showing that this protein plays a crucial role in the RCT system.
|
11689208 |
2001 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Despite continued uncertainty regarding the cardiovascular implications of genetic CETP deficiency and pharmacologic CETP inhibition, there remain reasons to believe in the mechanism and the possibility that clean CETP inhibitors will not only improve plasma lipids but also reduce cardiovascular risk.
|
18929230 |
2008 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although the pathophysiological significance of CETP in terms of atherosclerosis has been controversial, the in vitro experiments showed that large CE-rich HDL particles in CETP deficiency are defective in cholesterol efflux.
|
11111094 |
2000 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
To further clarify the characteristics of marked HALP in patients with ACD, we compared the plasma lipids, lipoproteins, CETP, and HTGL activities between heterozygotes for CETP deficiency who were with and without ACD.
|
7583564 |
1995 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Controversy remains about whether CETP deficiency and the resultant rise in HDL-C are antiatherogenic, or whether CETP has the opposite effect due to its role in reverse cholesterol transport.
|
14967821 |
2004 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
The carriers of CETP deficiency had CETP and lipid abnormalities.
|
11940367 |
2002 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CETP gene associated with CETP deficiency are characterized by high HDL-cholesterol levels (>60 mg/dL) and reduced cardiovascular risk.
|
14729390 |
2004 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The data furthermore indicate that genetic CETP deficiency is rare among Caucasians and that this disorder presents with a phenotype that is different from that of subjects with HALP who have no mutation in the CETP gene.
|
17192423 |
2007 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins.
|
8408659 |
1993 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Epidemiological studies in Japanese-Americans living in Hawaii and Japanese in the Omagari area, where HALP subjects with an intron 14 splicing defect of the CETP gene are markedly frequent, have shown a relatively increased incidence of coronary atherosclerosis in CETP deficiency.
|
15256762 |
2004 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
There was a considerable difference in the atherogenicity of human CETP deficiency and CETP-inhibited rabbits.
|
11086331 |
2000 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
It does not seem directly due to the lack of CETP activity in plasma but to abnormal lipoprotein generated by chronic CETP deficiency.
|
11500037 |
2001 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The presence of a HDL-like peak migrating between the ApoB-LDL and ApoA-I-HDL was identified in a Caucasian patient with homozygosity for a point mutation in exon 2 of the CETP gene (c.109 C > T) resulting in a premature termination codon (R37X) and complete CETP deficiency.
|
22339301 |
2012 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Cholesteryl ester transfer protein (CETP) deficiency is one of the most important and common causes of hyperalphalipoproteinemia (HALP) in the Japanese.
|
12091484 |
2002 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Complete CETP deficiency caused by mutations in CETP gene is exceedingly rare in Caucasians; the description of this single case indicates that CETP deficiency does not predispose to atherosclerosis in the absence of major cardiovascular risk factors.
|
19200546 |
2009 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The consequences of chronic CETP deficiency in lipid-storing cells normally expressing CETP have not been reported.
|
17522050 |
2007 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We recently described a Japanese family with increased HDL levels and CETP deficiency due to a splicing defect of the CETP gene.
|
2215607 |
1990 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the current study, we have found a unique area (Omagari City, Akita Prefecture, Japan) where CETP deficiency caused by a G-to-A mutation at the 5' splice donor site of intron 14 in the CETP gene is extremely frequent.
|
9194754 |
1997 |
|
HYPERALPHALIPOPROTEINEMIA 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the CETP gene resulting in defective CETP activity have been shown to cause remarkable elevations of plasma HDL-C levels, with the accumulation in plasma of large, buoyant HDL particles enriched in apolipoprotein E. Genetic CETP deficiency thus represents a unique tool to evaluate how structural alterations of HDL impact on HDL atheroprotective functions.
|
24830642 |
2014 |