Animal models of metabolic disorders in the study of neurodegenerative diseases: an overview

AF De Bem, R Krolow, HR Farias… - Frontiers in …, 2021 - frontiersin.org
The incidence of metabolic disorders, as well as of neurodegenerative diseases—mainly the
sporadic forms of Alzheimer's and Parkinson's disease—are increasing worldwide. Notably …

Familial hypercholesterolemia: New horizons for diagnosis and effective management

M Mytilinaiou, I Kyrou, M Khan… - Frontiers in …, 2018 - frontiersin.org
Familial hypercholesterolemia (FH) is a common genetic cause of premature cardiovascular
disease (CVD). The reported prevalence rates for both heterozygous FH (HeFH) and …

Spontaneous severe hypercholesterolemia and atherosclerosis lesions in rabbits with deficiency of low-density lipoprotein receptor (LDLR) on exon 7

R Lu, T Yuan, Y Wang, T Zhang, Y Yuan, D Wu… - …, 2018 - thelancet.com
Rabbits (Oryctolagus cuniculus) have been the very frequently used as animal models in the
study of human lipid metabolism and atherosclerosis, because they have similar lipoprotein …

[HTML][HTML] Molecular mechanisms and genetic regulation in atherosclerosis

AO Jackson, MA Regine, C Subrata, S Long - IJC heart & vasculature, 2018 - Elsevier
Atherosclerosis (AS) manifested by lipid accumulation, extracellular matrix protein
deposition, and calcification in the intima and media of the large to medium size arteries …

[PDF][PDF] Pulse wave velocity as a measure of arterial stiffness in patients with familial hypercholesterolemia: a systematic review and meta-analysis

Ž Reiner, L Simental-Mendía, M Ruscica… - Archives of Medical …, 2019 - termedia.pl
Results This meta-analysis of 8 studies involving 317 patients with FH and 244 non-FH
individuals did not suggest a significantly altered PWV in FH patients versus controls …

Genetics, screening, and treatment of familial hypercholesterolemia: Experience gained from the implementation of the Vietnam familial hypercholesterolemia registry

TH Truong, DL Do, NT Kim, MNT Nguyen, TT Le… - Frontiers in …, 2020 - frontiersin.org
Familial hypercholesterolemia (FH) is underdiagnosed and undertreated in a majority of the
low-and middle-income countries. FH registries could prove useful in bridging the …

Improvement of definite diagnosis of familial hypercholesterolemia using an expanding genetic analysis

YX Cao, D Sun, HH Liu, JL **, S Li, YL Guo, NQ Wu… - JACC: Asia, 2021 - jacc.org
Background The deeper understanding of the complex hereditary basis of familial
hypercholesterolemia (FH) has raised the rationale of genetic testing, which has been …

Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan

YC Hsiung, PC Lin, CS Chen, YC Tung, WS Yang… - Atherosclerosis, 2018 - Elsevier
Background and aims Familial hypercholesterolemia (FH) is an autosomal dominant
disorder with paramount health impacts. However, less than 1% FH patients in Taiwan were …

Genetic analysis of Japanese children clinically diagnosed with familial hypercholesterolemia

K Nagahara, T Nishibukuro, Y Ogiwara… - … of Atherosclerosis and …, 2022 - jstage.jst.go.jp
Aim: This study aimed to elucidate the gene and lipid profiles of children clinically diagnosed
with familial hypercholesterolemia (FH). Methods: A total of 21 dyslipidemia-related …

Molecular modeling of LDLR aids interpretation of genomic variants

EW Klee, MT Zimmermann - Journal of Molecular Medicine, 2019 - Springer
Genetic variants in low-density lipoprotein receptor (LDLR) are known to cause familial
hypercholesterolemia (FH), occurring in up to 1 in 200 people (Youngblom E. et al. 1993 …