Genetic, molecular, and cellular determinants of sex-specific cardiovascular traits

F Vaura, J Palmu, J Aittokallio, A Kauko… - Circulation …, 2022 - Am Heart Assoc
Despite the well-known sex dimorphism in cardiovascular disease traits, the exact genetic,
molecular, and cellular underpinnings of these differences are not well understood. A …

A sequence-based global map of regulatory activity for deciphering human genetics

KM Chen, AK Wong, OG Troyanskaya, J Zhou - Nature genetics, 2022 - nature.com
Epigenomic profiling has enabled large-scale identification of regulatory elements, yet we
still lack a systematic mapping from any sequence or variant to regulatory activities. We …

The effect of polyphenols on hypercholesterolemia through inhibiting the transport and expression of niemann–pick C1-like 1

S Kobayashi - International journal of molecular sciences, 2019 - mdpi.com
The Niemann–Pick C1-like 1 (NPC1L1) protein is a cholesterol transporter that is expressed
in the small intestine. This report describes the discovery of NPC1L1, its transport properties …

PhenomeXcan: Mapping the genome to the phenome through the transcriptome

M Pividori, PS Rajagopal, A Barbeira, Y Liang… - Science …, 2020 - science.org
Large-scale genomic and transcriptomic initiatives offer unprecedented insight into complex
traits, but clinical translation remains limited by variant-level associations without biological …

Shared genetic loci between body mass index and major psychiatric disorders: a genome-wide association study

S Bahrami, NE Steen, A Shadrin, K O'Connell… - JAMA …, 2020 - jamanetwork.com
Importance People with major psychiatric disorders (MPDs) have a 10-to 20-year shorter life
span than the rest of the population, and this difference is mainly due to comorbid …

[HTML][HTML] Clinical and biochemical features of different molecular etiologies of familial chylomicronemia

RA Hegele, AJ Berberich, MR Ban, J Wang… - Journal of clinical …, 2018 - Elsevier
Background Familial chylomicronemia syndrome (FCS) is an ultra-rare phenotype that is
usually caused by biallelic mutations in the LPL gene encoding lipoprotein lipase, or less …

[HTML][HTML] A randomized study investigating the safety, tolerability, and pharmacokinetics of evinacumab, an ANGPTL3 inhibitor, in healthy Japanese and Caucasian …

M Harada-Shiba, S Ali, DA Gipe, E Gasparino, V Son… - Atherosclerosis, 2020 - Elsevier
Background and aims Evinacumab, an angiopoietin-like protein 3 monoclonal antibody,
reduced low-density lipoprotein cholesterol (LDL-C) significantly in a Phase 2 study of …

Personalized dietary recommendations based on lipid-related genetic variants: a systematic review

YE Perez-Beltran, I Rivera-Iniguez… - Frontiers in …, 2022 - frontiersin.org
Background Obesity and dyslipidemias are risk factors for developing cardiovascular
diseases, the leading causes of morbidity and mortality worldwide. The pathogenesis of …

[HTML][HTML] Effect of dietary patterns on cardiovascular risk factors in people with type 2 diabetes. A systematic review and network meta-analysis

NE Bonekamp, I van Damme, JM Geleijnse… - Diabetes Research and …, 2023 - Elsevier
Aims To identify the most effective dietary pattern for improving cardiovascular risk factors in
people with type 2 diabetes. Methods PubMed, Embase, the Cochrane library, SCOPUS and …

Genome-wide identification of copy number variation and association with fat deposition in thin and fat-tailed sheep breeds

S Taghizadeh, M Gholizadeh, G Rahimi-Mianji… - Scientific Reports, 2022 - nature.com
Copy number variants (CNVs) are a type of genetic polymorphism which contribute to
phenotypic variation in several species, including livestock. In this study, we used genomic …