Hypercholesterolemia, Familial
|
0.900 |
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 |
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolaemia (FH) is caused by pathogenic variants in LDLR, APOB or PCSK9.
|
31833051 |
2020 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is the most common genetic disorder of lipoprotein metabolism, affecting 1:250 individuals worldwide.
|
30318454 |
2020 |
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant familial hypercholesterolemia (FH) is caused by mutations in LDLR,APOB and PCSK9.
|
31809983 |
2020 |
Hypercholesterolemia, Familial
|
0.900 |
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 |
Hypercholesterolemia, Familial
|
0.900 |
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 |
Hypercholesterolemia, Familial
|
0.900 |
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 |
Hypercholesterolemia, Familial
|
0.900 |
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 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a hereditary and usually asymptomatic condition characterized by elevated blood cholesterol and increased risk of premature cardiovascular disease.
|
30606641 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is characterized by high prevalence of CAD and major cardiovascular events (MACEs).
|
31711505 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Using a combined structural modeling and bioinformatics algorithm, we developed an in silico prediction model called "Structure-based Functional Impact Prediction for Mutation Identification" (SFIP-MutID) for FH with LDLR single missense mutations.
|
30583242 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is reportedly associated with the development of coronary artery disease (CAD), especially acute coronary syndrome (ACS).
|
30968218 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
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 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Plasma biomarkers associated with low-density lipoprotein receptor (LDLR) function could help identifying FH children.
|
29102496 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
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 |
Hypercholesterolemia, Familial
|
0.900 |
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 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) can lead to premature coronary heart disease.
|
31248367 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant disease most often caused by mutations in the low-density lipoprotein receptor (LDLR) gene, which consists of 18 exons spanning 45 kb and codes for a precursor protein of 860 amino acids.
|
31731579 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is often perceived and described as underdiagnosed and undertreated, though effective treatment of FH is available.
|
31230174 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is known to be underdiagnosed and undertreated.
|
31151710 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
|
29233637 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated LDL-C since birth and subsequent premature CVD.
|
31371270 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is the most common genetic disorder in medicine, with a prevalence of 1/250.
|
30755017 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We previously identified a highly consanguineous familial hypercholesterolemia (FH) family demonstrating segregation of the JD Bari mutation in the LDL receptor as well as a putative cholesterol-lowering trait.
|
31387896 |
2019 |
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this article, we tried to review the in vitro, ex vivo, and in vivo attempts conducted to correct FH-causing LDLr gene mutations by using different methods of gene delivery, gene editing, and stem cell manipulation.
|
30910740 |
2019 |