|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR,APOB and PCSK9.
|
31809983 |
2020 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a genetic disorder caused by dysfunction of low density lipoprotein receptors (LDLr), resulting in elevated plasma cholesterol levels.
|
31815695 |
2020 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a frequent genetic disorder characterized by elevated low-density lipoprotein (LDL)-cholesterol (LDL-C) levels and early onset of atherosclerotic cardiovascular disease.
|
31669498 |
2020 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is the most common hereditary lipid disorder requiring life-long treatment to prevent cardiovascular disease.
|
31821958 |
2020 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to examine whether the c.2579C>T (p.A860V) variant of the LDLR gene affects the phenotype of FH.
|
30745271 |
2020 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism that mainly occurs due to mutations in the low-density lipoprotein receptor gene and is characterized by increased levels of low-density lipoprotein cholesterol, leading to accelerated atherogenesis and premature coronary heart disease.
|
31633867 |
2020 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Mutations in low-density lipoprotein receptor (<i>LDLR</i>) are one of the main causes of familial hypercholesterolemia (FH), which induces atherosclerosis and has a high lifetime risk of cardiovascular disease.
|
31779484 |
2020 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is the most common genetic disorder of lipoprotein metabolism, affecting 1:250 individuals worldwide.
|
30318454 |
2020 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a genetic hyperlipidemia characterized by elevated concentrations of plasma LDL cholesterol.
|
30700805 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease.
|
31427613 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study enrolled PMI patients (n = 225) and detected the mutations in their FH-associated genes (LDLR, APOB, PCSK9, LDLRAP1) by Sanger sequencing.
|
30971288 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
More than 4970 variants in the low-density lipoprotein receptor (LDLR) gene and 350 variants in the proprotein convertase subtilisin/kexin 9 (PCSK9) gene have been reported in familial hypercholesterolemia (FH) patients.
|
31491741 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
We propose the following classification: familial hypercholesterolemia syndrome integrated by (1) heterozygous familial hypercholesterolemia: patients with clinically definite FH and a functional mutation in one allele of the LDLR, ApoB:100, and PCSK9 genes; (2) homozygous familial hypercholesterolemia: mutations affect both alleles; (3) polygenic familial hypercholesterolemia: patients with clinically definite FH but no mutations associated with FH are found (to be distinguished from non-familial, multifactorial hypercholesterolemia); (4) familial hypercholesterolemia combined with hypertriglyceridemia: a subgroup of familial combined hyperlipidaemia patients fulfilling clinically definite FH with associated hypertriglyceridemia.
|
31238171 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated LDL-C since birth and subsequent premature CVD.
|
31371270 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) and elevated lipoprotein(a) [Lp(a)] are inherited disorders associated with premature atherosclerotic cardiovascular disease (ASCVD).
|
30846097 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is reportedly associated with the development of coronary artery disease (CAD), especially acute coronary syndrome (ACS).
|
30968218 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a common hereditary lipid disorder associated with substantial risk of premature atherosclerotic cardiovascular disease.
|
30868157 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thus, the ambiguities in interpretation of LDLR variants are a barrier to achieving the expected clinical value for personalized genomics assays for management of FH.
|
30778614 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results contribute to the growing list of transport-deficient class II LDLR variants leading to FH and provide evidence for the involvement of endoplasmic reticulum-associated degradation in their stability.
|
31587492 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial Hypercholesterolemia (FH) is a genetic condition that predisposes patients to substantially increased risk of early-onset atherosclerotic cardiovascular disease.
|
31630009 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is often perceived and described as underdiagnosed and undertreated, though effective treatment of FH is available.
|
31230174 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in PCSK9 that strengthen its interactions with LDLR result in familial hypercholesterolemia (FH) and early onset atherosclerosis, while nonsense mutations of PCSK9 result in cardio-protective hypocholesterolemia.
|
31805108 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH), coronary heart/artery disease, myocardial infarction, and acute coronary syndrome were more common among PCSK9i users than non-users.
|
30289004 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Until last year, only the LDLR and LPA genes were appreciated as loci within which clinically relevant CNVs contributed to familial hypercholesterolemia and variation in Lp(a) levels, respectively.
|
30664016 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Plasma biomarkers associated with low-density lipoprotein receptor (LDLR) function could help identifying FH children.
|
29102496 |
2019 |