From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases

E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …

First international consensus on the diagnosis and management of fibromuscular dysplasia

HL Gornik, A Persu, D Adlam, LS Aparicio… - Vascular …, 2019 - journals.sagepub.com
This article is a comprehensive document on the diagnosis and management of
fibromuscular dysplasia (FMD), which was commissioned by the working group …

ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

R Asselta, EM Paraboschi, A Mantovani… - Aging (albany …, 2020 - pmc.ncbi.nlm.nih.gov
As the outbreak of coronavirus disease 2019 (COVID-19) progresses, prognostic markers for
early identification of high-risk individuals are an urgent medical need. Italy has one of the …

Map** and characterization of structural variation in 17,795 human genomes

HJ Abel, DE Larson, AA Regier, C Chiang, I Das… - Nature, 2020 - nature.com
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

Systems biology in cardiovascular disease: a multiomics approach

A Joshi, M Rienks, K Theofilatos, M Mayr - Nature Reviews Cardiology, 2021 - nature.com
Omics techniques generate large, multidimensional data that are amenable to analysis by
new informatics approaches alongside conventional statistical methods. Systems theories …

Alternative platelet differentiation pathways initiated by nonhierarchically related hematopoietic stem cells

J Carrelha, S Mazzi, A Winroth… - Nature …, 2024 - nature.com
Rare multipotent stem cells replenish millions of blood cells per second through a time-
consuming process, passing through multiple stages of increasingly lineage-restricted …

Genetic risk, adherence to a healthy lifestyle, and coronary disease

AV Khera, CA Emdin, I Drake… - … England Journal of …, 2016 - Mass Medical Soc
Background Both genetic and lifestyle factors contribute to individual-level risk of coronary
artery disease. The extent to which increased genetic risk can be offset by a healthy lifestyle …

Genetics of coronary artery disease: discovery, biology and clinical translation

AV Khera, S Kathiresan - Nature Reviews Genetics, 2017 - nature.com
Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease …

Circular non-coding RNA ANRIL modulates ribosomal RNA maturation and atherosclerosis in humans

LM Holdt, A Stahringer, K Sass, G Pichler… - Nature …, 2016 - nature.com
Circular RNAs (circRNAs) are broadly expressed in eukaryotic cells, but their molecular
mechanism in human disease remains obscure. Here we show that circular antisense non …

Alterations in the gut microbiome and metabolism with coronary artery disease severity

H Liu, X Chen, X Hu, H Niu, R Tian, H Wang, H Pang… - Microbiome, 2019 - Springer
Background Coronary artery disease (CAD) is associated with gut microbiota alterations in
different populations. Gut microbe-derived metabolites have been proposed as markers of …