Genetic and molecular architecture of familial hypercholesterolemia

M Abifadel, C Boileau - Journal of internal medicine, 2023 - Wiley Online Library
Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its
important risk of premature atherosclerosis and cardiovascular disease, familial …

APOE gene variants in primary dyslipidemia

Y Abou Khalil, JP Rabès, C Boileau, M Varret - Atherosclerosis, 2021 - Elsevier
Apolipoprotein E (apoE) is a major apolipoprotein involved in lipoprotein metabolism. It is a
polymorphic protein and different isoforms are associated with variations in lipid and …

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis

Q Guo, X Feng, Y Zhou - Frontiers in Genetics, 2020 - frontiersin.org
Autosomal dominant familial hypercholesterolemia (FH) affects approximately 1/250,
individuals and potentially leads to elevated blood cholesterol and a significantly increased …

Next-generation sequencing to confirm clinical familial hypercholesterolemia

LF Reeskamp, TR Tromp, JC Defesche… - European journal of …, 2021 - academic.oup.com
Background Familial hypercholesterolemia is characterised by high low-density lipoprotein-
cholesterol levels and is caused by a pathogenic variant in LDLR, APOB or PCSK9. We …

Genetic testing for familial hypercholesterolemia—past, present, and future

M Futema, A Taylor-Beadling, M Williams… - Journal of lipid …, 2021 - ASBMB
In the early 1980s, the Nobel Prize winning cellular and molecular work of Mike Brown and
Joe Goldstein led to the identification of the LDL receptor gene as the first gene where …

Diabetes and familial hypercholesterolemia: interplay between lipid and glucose metabolism

AM González-Lleó, RM Sánchez-Hernández… - Nutrients, 2022 - mdpi.com
Familial hypercholesterolemia (FH) is a genetic disease characterized by high low-density
lipoprotein (LDL) cholesterol (LDL-c) concentrations that increase cardiovascular risk and …

[HTML][HTML] Past, present, and future of familial hypercholesterolemia management

VZ Rocha, RD Santos - Methodist DeBakey Cardiovascular …, 2021 - ncbi.nlm.nih.gov
Familial hypercholesterolemia (FH) is a monogenic form of severe hypercholesterolemia
that, if left untreated, is associated with early onset of atherosclerosis. FH derives from …

New trends and therapies for familial hypercholesterolemia

F Alnouri, RD Santos - Journal of Clinical Medicine, 2022 - mdpi.com
Familial hypercholesterolemia (FH) is associated with an elevated risk of atherosclerosis.
The finding of monogenic defects indicates higher atherosclerotic risk in comparison with …

Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion

W van Zwol, A Rimbert, JC Wolters, M Smit… - Hepatology …, 2023 - journals.lww.com
Abstract Background and Aims: The assembly and secretion of VLDL from the liver, a
pathway that affects hepatic and plasma lipids, remains incompletely understood. We set out …

Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia

L Rieck, F Bardey, T Grenkowitz, L Bertram… - Clinical …, 2020 - Wiley Online Library
Autosomal‐dominant familial hypercholesterolemia (FH) is characterized by increased
plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) and a substantial risk …