Relationship between brain metabolic disorders and cognitive impairment: LDL receptor defect

DY Hong, DH Lee, JY Lee, EC Lee, SW Park… - International Journal of …, 2022 - mdpi.com
The low-density-lipoprotein receptor (LDLr) removes low-density lipoprotein (LDL), an
endovascular transporter that carries cholesterol from the bloodstream to peripheral tissues …

[HTML][HTML] Исследование ЭССЕ-РФ (Эпидемиология сердечно-сосудистых заболеваний и их факторов риска в регионах Российской Федерации). Десять лет …

СА Бойцов, ОМ Драпкина, ЕВ Шляхто… - Кардиоваскулярная …, 2021 - cyberleninka.ru
Растущее бремя хронических неинфекционных заболеваний, в первую очередь,
сердечно-сосудистых (ССЗ), представляет собой большую опасность для здоровья …

[HTML][HTML] Epidemiology of cardiovascular diseases and their risk factors in regions of Russian Federation (ESSE-RF) study. Ten years later

SA Boytsov, OM Drapkina… - Cardiovascular …, 2021 - cardiovascular.elpub.ru
The growing weight of noncommunicable diseases, primarily cardiovascular diseases
(CVDs), is a great threat to the health of population worldwide, worsening the quality of life …

Targeted sequencing of 242 clinically important genes in the Russian population from the ivanovo region

VE Ramensky, AI Ershova, M Zaicenoka… - Frontiers in …, 2021 - frontiersin.org
We performed a targeted sequencing of 242 clinically important genes mostly associated
with cardiovascular diseases in a representative population sample of 1,658 individuals …

Gene and cell therapy approaches for familial hypercholesterolemia: An update

N Parsamanesh, O Kooshkaki, H Siami, RD Santos… - Drug discovery today, 2023 - Elsevier
Highlights•FH is a common inherited autosomal codominant disorder.•Homozygous FH
patients usually have a poor response to traditional lipid-lowering therapy.•We reviewed the …

[PDF][PDF] Review of multimorbid conditions in atherosclerosis

AN Don, DD Artykov, SS Gulomov - Journal of new century …, 2023 - newjournal.org
Annotation. A review of modern literature on the issues of multimorbidity of atherosclerosis
and osteoporosis is presented. There are quite a lot of various scientific studies …

LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients

TKA Barbosa, RDC Hirata, GM Ferreira, JB Borges… - Gene, 2023 - Elsevier
Familial hypercholesterolemia (FH) is caused by deleterious mutations in the LDLR that
increase markedly low-density lipoprotein (LDL) cholesterol and cause premature …

Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs

AA Mori, VB Malaquias, K Bonjour, GM Ferreira… - Gene, 2024 - Elsevier
Familial Hypercholesterolemia (FH) is a genetic disorder associated with premature
atherosclerosis and increased risk of cardiovascular diseases. LDLR deleterious mutations …

Genetic spectrum of familial hypercholesterolaemia in the malaysian community: Identification of pathogenic gene variants using targeted next-generation sequencing

AZ Razman, YA Chua, NA Mohd Kasim… - International Journal of …, 2022 - mdpi.com
Familial hypercholesterolaemia (FH) is caused by mutations in lipid metabolism genes,
predominantly in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) …

Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION

MS Nazarenko, AA Sleptcov, AA Zarubin… - International Journal of …, 2023 - mdpi.com
The LDLR locus has clinical significance for lipid metabolism, Mendelian familial
hypercholesterolemia (FH), and common lipid metabolism-related diseases (coronary artery …