Hypercholesterolemia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Abnormalities of lipid metabolism in NS include hypertriglyceridemia and hypercholesterolemia due to elevated apolipoprotein B-containing lipoproteins, decreased lipoprotein lipase and hepatic lipase activity, increased hepatic PCSK9 levels, and reduced hepatic uptake of high-density lipoprotein.
|
31302760 |
2019 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, severe hypercholesterolemia associated with increased apolipoprotein B containing lipoproteins affects the epidermal lipid composition and its protective barrier.
|
30905828 |
2019 |
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Vitamin D supplementation significantly increased total cholesterol, triglycerides, very-low-density lipoprotein (VLDL) triglycerides, low-density lipoprotein (LDL) triglycerides, high-density lipoprotein (HDL) triglycerides, apolipoprotein B (ApoB), LDL-ApoB, ApoCII, ApoCIII, phospholipids, and ApoE (P < .05 for all).
|
29653812 |
2019 |
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
The results indicate a possible underlying contributor to hypercholesterolemia other than PCSK9 in patients with APOB LOFm.
|
31767518 |
2019 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We identified a set of Mendelian variants that co-occur in individuals with BD more frequently than their unaffected family members, including the R3527Q mutation in APOB associated with hypercholesterolemia.
|
30315151 |
2018 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH.
|
30270084 |
2018 |
Hypercholesterolemia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Improvements were also observed in hypercholesterolemia, in which significant decreases in serum total cholesterol, non-high-density lipoprotein (non-HDL) cholesterol, apolipoprotein A-1, and apolipoprotein B levels were observed.
|
30513715 |
2018 |
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
These studies highlight the effectiveness of using iPSCs to screen for potential treatments for inborn errors of hepatic metabolism and suggest that cardiac glycosides could provide an approach for reducing hepatocyte production of apoB and treating hypercholesterolemia.
|
28388428 |
2017 |
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Alirocumab Treatment and Achievement of Non-High-Density Lipoprotein Cholesterol and Apolipoprotein B Goals in Patients With Hypercholesterolemia: Pooled Results From 10 Phase 3 ODYSSEY Trials.
|
28862926 |
2017 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This study shows the relevance of polymorphisms in APOB (odds ratio (OR), 1.17; 95% confidence interval (95% CI), 0.74-1.85), APOC3 (OR, 1.33; 95% CI, 0.82-2.17) and APOE (OR, 1.75; 95% CI, 1.09-2.80), as genetic risk markers for hypercholesterolemia; polymorphisms in ACE (OR, 1.68; 95% CI, 0.32-8.77) and AGT (OR, 1.74; 95% CI, 0.97-3.14) for hypertension; and in APOE*3/*4 (OR, 2.06; 95% CI, 1.70-2.51) and APOE*4/*4 (OR, 3.08; 95% CI, 1.85-5.12) as unambiguous markers of dementia.
|
29081697 |
2017 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Three mutations were pathogenic (APOB p.R3527Q) or likely pathogenic (LDLR p.C27W, LDLR p.P526S) for hypercholesterolaemia, while the others were either benign or of unknown significance.
|
27497240 |
2016 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our objective was to determine the frequency of p.Leu167del mutation in APOE gene in subjects with autosomal dominant hypercholesterolemia (ADH) in whom LDLR, APOB, and PCSK9 mutations had been excluded and to identify the mechanisms by which this mutant apo E causes hypercholesterolemia.
|
27014949 |
2016 |
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Metaanalysis of the weighted 6-SNP score, on the basis of polymorphisms in CELSR2 (cadherin, EGF LAG 7-pass G-type receptor 2), APOB (apolipoprotein B), ABCG5/8 [ATP-binding cassette, sub-family G (WHITE), member 5/8], LDLR (low density lipoprotein receptor), and APOE (apolipoprotein E) loci, in the independent FH/M- cohorts showed a consistently higher score in comparison to the WHII population (P < 2.2 × 10(-16)).
|
25414277 |
2015 |
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mipomersen, an antisense oligonucleotide to apolipoprotein B-100, reduces lipoprotein(a) in various populations with hypercholesterolemia: results of 4 phase III trials.
|
25614280 |
2015 |
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
|
23433573 |
2013 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Allele and genotype disease association test revealed that APOB rs693 (OR: 2.2 [1.5-3.2], p=0.0001) and CD36 rs1984112 (OR: 3.7 [1.9-7.0], p=0.0002) SNPs were independent risk factors for hypercholesterolemia.
|
23247049 |
2013 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This employs the personal and family history of premature coronary artery disease and hypercholesterolemia and the presence of a pathogenic mutation in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes.
|
22893714 |
2012 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
|
20506408 |
2010 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this study, a molecular analysis of LDLR and APOB was performed in a group of 378 unrelated ADH patients, to explore the mutation spectrum that causes hypercholesterolemia in Poland.
|
20145306 |
2010 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A total of 100 unrelated children (6 +/-3 years old, 43 boys, 57 girls) with type IIa HC (LDLC >130 mg/dL) and complete genetic testing (at loci for genes for LDLR, apolipoprotein B, proprotein convertase subtilisin-like kesin type 9, and apolipoprotein E) were selected for score elaboration.
|
19330934 |
2009 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
To seek apolipoprotein B (apoB) gene mutations in children and adolescents presenting to a lipid clinic with hypercholesterolemia and suspected of familial defective apoB (FDB), employing a new automated denaturing high performance liquid chromatography (DHPLC) method.
|
18222178 |
2008 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown that rare mutations in the apolipoprotein B gene (APOB) may result in not only severe hypercholesterolemia and ischemic heart disease but also hypocholesterolemia.
|
18160469 |
2008 |
Hypercholesterolemia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
All three subjects had elevated total cholesterol and LDL cholesterol levels, and high or borderline high plasma apoB levels.
|
18222178 |
2008 |
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Hypercholesterolemia increases myocardial oxidative and nitrosative stress thereby leading to cardiac dysfunction in apoB-100 transgenic mice.
|
17658498 |
2007 |
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We performed genetic analysis in 55 patients with clinical features of possible type IIa hypercholesterolemia and 76 normolipemic healthy subjects for mutations and polymorphisms in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B-100 (APOB), apolipoprotein E (APOE), and hepatic lipase (LIPC) genes to elucidate the important genetic factors that can influence cholesterol levels in our population.
|
18022922 |
2007 |