Hypercholesterolemia, Familial
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Multiple linear regression analysis showed that the FH status was the only independent factor associated with apoB-48 levels, contributing to 28.7% of the variance (P < 0.0001).
|
28619117 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We also found that mutations in APOB and PCSK9 genes were a rare cause of FH in our cohort.
|
28965614 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Familial hypobetalipoproteinemia (FHBL) represents the genetic mirror of FH in terms of LDL-C levels, very low in subjects carrying mutations of APOB, PCSK9 (FHBL1) or ANGPTL3 (FHBL2).
|
27804036 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this and our previous study, we show that a causal mutation in LDLR, APOB, and PCSK9 can be identified in almost all children with a definite clinical diagnosis of FH.
|
27578116 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
Biomarker
|
disease |
BEFREE |
Apolipoprotein B (ApoB)-ASO is an FDA approved drug for treating familial hypercholesterolemia.
|
28839185 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes for LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type9 (PCSK9).
|
28104544 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in any of three genes (LDLR, APOB and PCSK9) are known to cause autosomal dominant FH, but a mutation can be found in only ∼40% of patients with a clinical diagnosis of FH.
|
28405938 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LDL receptor, apolipoprotein B and PCSK9 genes are the common causes of FH.
|
28242176 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
Biomarker
|
disease |
BEFREE |
Molecular analysis of FH was performed using target exome sequencing in <i>LDLR</i> (low-density lipoprotein cholesterol receptor gene), <i>APOB</i> (apolipoprotein B gene), and <i>PCSK9</i> (proprotein convertase subtilisin/kexin type 9 gene).
|
27932355 |
2017 |
Hypercholesterolemia, Familial
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The study included 193 unrelated adult patients (mean age 48 ± 13 years) with clinical diagnosis of FH based on the revised DLCN score, tested sequentially for mutations in LDLR and APOB genes using bidirectional Sanger sequencing and MLPA techniques.
|
27062410 |
2016 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LDLR, APOB and PCSK9 genes are known to cause FH.
|
26892515 |
2016 |
Hypercholesterolemia, Familial
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
|
27783906 |
2016 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A putative pathogenic variant was identified in 660 heterozygous patients: LDLR (623), APOB (33), and PCSK9 (4); 8 patients presented with homozygous FH.A detection rate of 41.5% was observed.
|
26020417 |
2016 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
|
26036859 |
2016 |
Hypercholesterolemia, Familial
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.
|
25414277 |
2015 |
Hypercholesterolemia, Familial
|
0.700 |
Biomarker
|
disease |
BEFREE |
To address this problem, we have devised a novel therapeutic concept, APO-skip, which is based on modulation of APOB splicing, and which has the potential to deliver a cost-effective, efficacious and safe therapy for FH.
|
25542072 |
2015 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Functional characterization of the LDLR, APOB and PCSK9 mutant genes associated with FH can be considered a necessary integration of its genetic diagnosis.
|
26165249 |
2015 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.
|
26643808 |
2015 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in four genes have been noted in patients with familial hypercholesterolemia (FH): LDL receptor (most common), apolipoprotein B (Apo B), proprotein convertase subtilin/kexin 9 (PCSK9), and low-density lipoprotein receptor adaptor protein (LDLRAP).
|
25612857 |
2015 |
Hypercholesterolemia, Familial
|
0.700 |
Biomarker
|
disease |
BEFREE |
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, Familial
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
|
24987033 |
2014 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigated the mode of inheritance of this mutation and confirmed that FH in this family is due to mutation only in the LDLR and not PCSK9 and ApoB genes.
|
24249837 |
2014 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
|
24234650 |
2014 |
Hypercholesterolemia, Familial
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) can be due to mutations in LDLR, PCSK9, and APOB.
|
24420163 |
2014 |