|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
The History of the WHHL Rabbit, an Animal Model of Familial Hypercholesterolemia (II) - Contribution to the Development and Validation of the Therapeutics for Hypercholesterolemia and Atherosclerosis.
|
31748470 |
2020 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
The History of the WHHL Rabbit, an Animal Model of Familial Hypercholesterolemia (I) - Contribution to the Elucidation of the Pathophysiology of Human Hypercholesterolemia and Coronary Heart Disease.
|
31748469 |
2020 |
|
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
|
0.900 |
Biomarker
|
disease |
BEFREE |
We aimed to establish a HFpEF model associated with hypercholesterolemia and type 2 diabetes mellitus by feeding a high-sucrose/high-fat (HSHF) diet to C57BL/6J low-density lipoprotein receptor (LDLr)<sup>-/-</sup> mice.
|
31064116 |
2019 |
|
Hypercholesterolemia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Activation of PCSK9 can thus decrease the expression of LDLR in the liver and inhibit LDL uptake, which leads to hypercholesterolaemia.
|
28549755 |
2019 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
PCSK9, through promoting lysosomal degradation of hepatic low-density lipoprotein (LDL) receptor, can decrease the clearance of plasma LDLs, leading to hypercholesterolaemia and consequent atherosclerotic plaque formation.
|
31236571 |
2019 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here, we demonstrated that BBR treatment reduced plasma LDL-C, TC and TG in LDLR wildtype (WT) mice fed a high fat and high cholesterol diet and it only lowered TG in LDLR WT mice fed a normal chow diet.
|
31666640 |
2019 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
PCSK9 regulates LDL receptor degradation and plays key roles in hypercholesterolemia and related cardiovascular diseases.
|
31593224 |
2019 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
To evaluate whether TRAF5 affects neointima formation, TRAF5-/-LDLR-/- and TRAF5+/+LDLR-/- mice consuming a high cholesterol diet (HCD) received wire-induced injury of the carotid artery.
|
31437850 |
2019 |
|
Hypercholesterolemia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Their levels, correlated inversely to LDL-R expression and directly to LDL-C, seem to play a central role in hypercholesterolaemia in NS.
|
31157893 |
2019 |
|
Hypercholesterolemia
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The ACAT-2 and CYP7A1 mRNA expression were significantly decreased in HC diet supplemented with STG, while the mRNA levels of LDLR were markedly increased.
|
30937311 |
2019 |
|
Hypercholesterolemia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an inherited disease of lipoprotein metabolism caused by a defect in the LDL receptor (LDLR) leading to severe hypercholesterolemia, and associated with an increased risk of coronary heart disease and myocardial infarction.
|
31061510 |
2019 |
|
Hypercholesterolemia
|
0.900 |
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 |
|
Hypercholesterolemia
|
0.900 |
Biomarker
|
disease |
BEFREE |
We investigated the effects of elevated cholesterol and the function of LDLr in neural precursor cells (NPC) isolated from adult C57BL/6JRj mice in vitro.
|
31767163 |
2019 |
|
Hypercholesterolemia
|
0.900 |
AlteredExpression
|
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 |
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 |