|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes, and it is estimated to be greatly underdiagnosed.
|
30293936 |
2019 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Four genes are implicated in ADH: LDLR, APOB, PCSK9 and APOE.
|
29386597 |
2018 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We included a total of 119 individuals; 34 bi-allelic ADH mutation carriers (20 homozygous/compound heterozygous LDLR mutation carriers (HoFH), 2 homozygous APOB mutation carriers (HoFDB), and 12 double heterozygotes for an LDLR and APOB mutation), 63 mono-allelic ADH mutation carriers (50 heterozygous LDLR [HeFH], 13 heterozygous APOB [HeFDB] mutation carriers), and 22 unaffected family members.
|
28502508 |
2018 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH), characterized by high-plasma low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD) risk, is caused by mutations in LDLR, APOB, and/or PCSK9.
|
27919364 |
2017 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
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 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Therefore, even though LDLR mutations are the major cause of ADH with a large mutation spectrum, APOE variants were found to be significantly associated with the disease.
|
26802169 |
2016 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study sought to assess the risk of premature CHD in ADH patients with mutations in LDLR (referred to as familial hypercholesterolemia [FH]) vs those without detectable mutations (unexplained ADH), stratified by sex.
|
26892126 |
2016 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the low density lipoprotein receptor (LDLR), its ligand apoB (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes.
|
24267230 |
2013 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ADH subjects carrying a mutation in LDLR present highly variable plasma LDL-cholesterol (LDL-C).
|
22417841 |
2012 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
METHODS AND RESULTS- A total of 38 men and 53 women, aged 22 to 76 years, met modified Simon-Broome criteria for ADH and were screened for mutations in the exons and consensus splice sites of LDLR, and in selected exons of apolipoprotein B-100 and proprotein convertase subtilisin-like kexin type 9.
|
23064986 |
2012 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal Dominant Hypercholesterolemia (ADH) is caused by LDLR and APOB mutations.
|
22095935 |
2012 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These two large rearrangements in the LDLR gene are the first to be described in the Tunisian population, increasing the spectrum of ADH-causative mutations.
|
22910581 |
2012 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that, in Mexico, ADH exhibits allelic heterogeneity with 5 relatively common LDLR mutations and that mutations in the APOB gene are not a common cause of ADH.
|
21722902 |
2011 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ADH was significantly associated to rs965814 G allele (p < 0.05) in a case-control study based on 200 unrelated ADH subjects without LDLR or APOB gene defects and 198 normolipidemic controls.
|
20629670 |
2011 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding for low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) underlie ADH.
|
21382890 |
2011 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
A substantial number of subjects with autosomal dominant hypercholesterolemia (ADH) do not have LDL receptor (LDLR) or apolipoprotein B (APOB) mutations.
|
19747803 |
2010 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings imply that major rearrangements of the LDLR gene as well as 2 point mutations (p.G592E in LDLR and p.R3527Q in APOB) are frequent causes of ADH in Poland.
|
20145306 |
2010 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The respective contribution of each known gene to ADH inthis French cohort is: LDLR 73.9%, APOB 6.6%, PCSK9 0.7%.
|
20809525 |
2010 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) caused by mutation in the LDLR gene is the most frequent form of ADH.
|
19319977 |
2009 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The genes encoding the low-density lipoprotein receptor and its ligand apolipoprotein B, have been the two genes classically implicated in autosomal dominant hypercholesterolemia (ADH).
|
19191301 |
2009 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
On the other hand, we identified six previously reported LDLR gene mutations (C107Y, D69N, R385W, W462X, G170X, V408M), two novel LDLR gene mutations (FsG631 and splice junction mutation of intron 10), and one known mutation (R3500W) and one novel missense mutation (T3540M) in the APOB gene that were present in 55 members from 18 ADH families (60%).
|
17964958 |
2007 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
A total of 52 subjects with a clinical diagnosis of ADH were examined for molecular defects in LDLR and APOB.No APOB defects were found.
|
17566095 |
2007 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-dominant hypercholesterolemia (ADH) has been identified as a major risk factor for coronary vascular disease (CVD) and is associated with mutations in the low-density lipoprotein receptor (LDLR) and the apolipoprotein B (APOB) gene.
|
16250003 |
2005 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ADH is known to result from mutations at two main loci: LDLR (encoding the low density lipoprotein receptor), and APOB (encoding apolipoprotein B100), its natural ligand.
|
16211558 |
2005 |
|
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified one large French pedigree (HC2) and 12 additional white families with ADH in which we excluded linkage to the LDLR and APOB, implicating a new locus we named "FH3."
|
10205269 |
1999 |