|
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 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
We used three FH animal species (mice, rats, and hamsters) with low-density lipoprotein receptor (Ldlr) deficiency to fully assess lipoprotein metabolism and atherosclerotic characteristics.
|
31217881 |
2019 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a monogenic dominant inherited disorder of lipid metabolism characterized by elevated low-density lipoprotein levels, and is mainly attributable to mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proportein convertase subtilisin/kexin type 9 (PCSK9) genes.
|
30681615 |
2019 |
|
Hypercholesterolemia, Familial
|
0.900 |
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 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
We have developed a gene therapy protocol for FH using AAV2, AAV9 and lentiviral vectors and tested safety and efficacy in LDL receptor deficient Watanabe Heritable Hyperlipidemic rabbits.
|
31061510 |
2019 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
While high low-density lipoprotein cholesterol (LDL-C) and low high-density lipoprotein cholesterol (HDL-C) levels are positively associated with cardiovascular events, it is still unclear whether familial hypercholesterolemia (FH) and Tangier's disease (TD), caused by mutations in LDLR and ABCA1, respectively, influence ischemic stroke (IS) in humans.
|
31487778 |
2019 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is the most appropriate model for understanding the effects of excess LDL-C because affected individuals have inherently high levels of circulating LDL-C. To clarify the effects of hypercholesterolemia on cerebral small vessel disease (SVD), we investigated cerebrovascular damage in detail due to elevated LDL-C using high resolution brain magnetic resonance imaging (MRI) in patients with FH.
|
30880296 |
2019 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These findings provide a better understanding in the structure-function relationships of LDLR mutations and may be useful in predicting FH severity based on future genotyping.
|
31401775 |
2019 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
The incidence rates of low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) mutations were 82% and 9%, and proprotein convertase subtilisin/kexin type 9 (PCSK9) mutations were rare in Chinese patients with FH.
|
30876527 |
2019 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
<b>Background:</b> Familial hypercholesterolemia (FH) greatly facilitates the development of cardiovascular disease (CVD).
|
30949068 |
2019 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
We screened 80 patients with FH (total cholesterol >7.8mmol/L, LDL-cholesterol >4.9mmol/L) and 77 controls using targeted next-generation sequencing (NGS) of six FH candidate genes (LDLR, ApoB100, PCSK9, ABCG5, ABCG8, and ANGPTL3).
|
30827231 |
2019 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a genetic hyperlipidemia characterized by elevated concentrations of plasma LDL cholesterol.
|
30700805 |
2019 |