Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
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 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
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 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The recently-identified variants in the CETP promoter and in the LIPC gene may contribute to HALP.
|
23219720 |
2013 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
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 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia.
|
22464213 |
2012 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It is predicted that there are more rare CETP gene mutations in Japanese, and these multiple rare mutations alone or a combination with each of prevalent mutations is responsible for mild-to-moderate or marked HALP, respectively.
|
22122993 |
2012 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Twenty-eight women, selected from a healthy population sample (n = 148) were classified according to three CETP levels, all statistically different: CETP deficiency (CETPd ≤ 4.5%, n = 8), high activity (CETPi ≥ 23.8, n = 6) and controls (CTL, CETP ≥ 4.6% and ≤ 23.7%, n = 14).
|
21609439 |
2011 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
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 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
The mean CETP and HL activities were significantly lower in the HALP group than in the control group (34 +/- 4 vs 44 +/- 3 pmol/[microL h], P = .04 and 150 +/- 17 vs 227 +/- 16 nmol free fatty acid/[mL min] P = .002, respectively).
|
19428034 |
2009 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We sequenced CETP gene in a group of 24 Italian subjects with primary HALP (HDL-C>80 mg/dl) suspected to have CETP deficiency.
|
18926541 |
2009 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
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 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Variations in the CETP gene may cause CETP deficiency, which is characterized by decreased mass and activity of the protein as well as altered HDL and LDL levels.
|
18680734 |
2008 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
This study suggests the absence of a relationship between CETP and HDL-C levels in Caucasians with HALP.
|
17192423 |
2007 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The consequences of chronic CETP deficiency in lipid-storing cells normally expressing CETP have not been reported.
|
17522050 |
2007 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease.
|
16855848 |
2006 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
In contrast, hyperalphalipoproteinemia as a result of loss of cholesteryl ester transfer protein function is associated with unaltered atherosclerosis progression compared with family controls.
|
15767853 |
2005 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
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 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
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 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
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 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
At least one of the four mutations was identified in 65.7% of subjects with reduced CETP activities and 57.5% of subjects with marked HALP.
|
12482565 |
2003 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
By using the Invader assay for seven mutations, including two novel mutations of the CETP gene, we investigated their frequency among 466 unrelated subjects with HALP (HDL-C > or = 2.07 mmol/l = 80 mg/dl).
|
12091484 |
2002 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
The carriers of CETP deficiency had CETP and lipid abnormalities.
|
11940367 |
2002 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
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 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, a novel -69 G-->A mutation in the CETP gene causes the decreased transcriptional activity leading to HALP.
|
11397708 |
2001 |
Cholesteryl Ester Transfer Protein Deficiency
|
0.400 |
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 |