Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes, and it is estimated to be greatly underdiagnosed.
|
30293936 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a primary hyperlipemia.
|
31689621 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is characterized by high prevalence of CAD and major cardiovascular events (MACEs).
|
31711505 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
<b>Background:</b> Familial hypercholesterolemia (FH) greatly facilitates the development of cardiovascular disease (CVD).
|
30949068 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a monogenic disease characterized by high levels of low-density lipoprotein cholesterol and premature atherosclerotic cardiovascular disease.
|
31518966 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
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 |
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) can lead to premature coronary heart disease.
|
31248367 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
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 |
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to delineate the FH genetic spectrum and identify specific characteristics of FH patients in this region.
|
31161821 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The majority of FH cases are caused by low density lipoprotein receptor (LDL-R) gene mutations.
|
31706281 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Conversely, mutations in the low density lipoprotein receptor (LDLR) result in failure of receptor mediated endocytosis of LDL leading to its elevated plasma levels and onset of familial hypercholesterolemia (FH).
|
30044465 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
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 |
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A total of 668 adult subjects with a heterozygous FH-causing mutation in the low density lipoprotein receptor (LDLR) gene were included in the present study.
|
29290540 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A substantial proportion of patients clinically diagnosed as having familial hypercholesterolemia (FH) do not manifest causative mutation(s) in the FH genes such asLDLR,APOB, andPCSK9.
|
31327807 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
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 |
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH), the most frequent monogenetic hereditary disorder, is underdiagnosed and undertreated.
|
31238984 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among 4776 participants with exome or genome sequences, we identified 27 individuals who carried FH-associated variants in the LDLR, APOB, or PCSK9 genes.
|
30270359 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by premature mortal cardiovascular complications.
|
31626710 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
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 |
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A pathogenic variant in LDLR, APOB, or PCSK9 can be identified in 30% to 80% of patients with clinically-diagnosed familial hypercholesterolemia (FH).
|
31345425 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Together, these results suggest that high LDL levels and a loss of LDLr function, which are characteristic to individuals with FH, might contribute to a disease-related impairment in adult hippocampal neurogenesis and, consequently, cognitive functions.
|
31767163 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
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 |
Hyperlipoproteinemia Type IIa
|
0.800 |
Biomarker
|
disease |
BEFREE |
This study investigates decision-making factors associated with intentions to have FH genetic testing among patients clinically diagnosed with FH.
|
31769116 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.800 |
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 |
Hyperlipoproteinemia Type IIa
|
0.800 |
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 |