From target discovery to clinical drug development with human genetics

K Trajanoska, C Bhérer, D Taliun, S Zhou, JB Richards… - Nature, 2023 - nature.com
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …

Vascular smooth muscle cells in atherosclerosis

GL Basatemur, HF Jørgensen, MCH Clarke… - Nature reviews …, 2019 - nature.com
Vascular smooth muscle cells (VSMCs) are a major cell type present at all stages of an
atherosclerotic plaque. According to the 'response to injury'and 'vulnerable …

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 …

Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

AW Turner, SS Hu, JV Mosquera, WF Ma… - Nature …, 2022 - nature.com
Coronary artery disease (CAD) is a complex inflammatory disease involving genetic
influences across cell types. Genome-wide association studies have identified over 200 loci …

Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements

MR Mumbach, AT Satpathy, EA Boyle, C Dai… - Nature …, 2017 - nature.com
The challenge of linking intergenic mutations to target genes has limited molecular
understanding of human diseases. Here we show that H3K27ac HiChIP generates high …

Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated …

D Adlam, TE Berrandou, A Georges, CP Nelson… - Nature Genetics, 2023 - nature.com
Spontaneous coronary artery dissection (SCAD) is an understudied cause of myocardial
infarction primarily affecting women. It is not known to what extent SCAD is genetically …

The microbiome in allergic disease: current understanding and future opportunities—2017 PRACTALL document of the American Academy of Allergy, Asthma & …

YJ Huang, BJ Marsland, S Bunyavanich… - Journal of Allergy and …, 2017 - Elsevier
PRACTALL is a joint initiative of the American Academy of Allergy, Asthma & Immunology
and the European Academy of Allergy and Clinical Immunology to provide shared evidence …

CARMN Is an Evolutionarily Conserved Smooth Muscle Cell–Specific LncRNA That Maintains Contractile Phenotype by Binding Myocardin

K Dong, J Shen, X He, G Hu, L Wang, I Osman… - Circulation, 2021 - Am Heart Assoc
Background: Vascular homeostasis is maintained by the differentiated phenotype of
vascular smooth muscle cells (VSMCs). The landscape of protein coding genes comprising …

Decoding the genetic and epigenetic basis of asthma

BS Stikker, RW Hendriks, R Stadhouders - Allergy, 2023 - Wiley Online Library
Asthma is a complex and heterogeneous chronic inflammatory disease of the airways.
Alongside environmental factors, asthma susceptibility is strongly influenced by genetics …

Single-cell epigenomics and functional fine-mapping of atherosclerosis GWAS loci

T Örd, K Õunap, LK Stolze, R Aherrahrou… - Circulation …, 2021 - Am Heart Assoc
Rationale: Genome-wide association studies have identified hundreds of loci associated
with coronary artery disease (CAD). Many of these loci are enriched in cisregulatory …