Platelet biology and functions: new concepts and clinical perspectives

PEJ van der Meijden, JWM Heemskerk - Nature Reviews Cardiology, 2019 - nature.com
Platelets—blood cells continuously produced from megakaryocytes mainly in the bone
marrow—are implicated not only in haemostasis and arterial thrombosis, but also in other …

[HTML][HTML] Beyond GWASs: illuminating the dark road from association to function

SL Edwards, J Beesley, JD French… - The American Journal of …, 2013 - cell.com
Genome-wide association studies (GWASs) have enabled the discovery of common genetic
variation contributing to normal and pathological traits and clinical drug responses, but …

[HTML][HTML] The polygenic and monogenic basis of blood traits and diseases

D Vuckovic, EL Bao, P Akbari, CA Lareau, A Mousas… - Cell, 2020 - cell.com
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …

[HTML][HTML] Platelets contribute to disease severity in COVID‐19

TJ Barrett, S Bilaloglu, M Cornwell, HM Burgess… - Journal of Thrombosis …, 2021 - Elsevier
Objective Heightened inflammation, dysregulated immunity, and thrombotic events are
characteristic of hospitalized COVID‐19 patients. Given that platelets are key regulators of …

Genomic atlas of the human plasma proteome

BB Sun, JC Maranville, JE Peters, D Stacey, JR Staley… - Nature, 2018 - nature.com
Although plasma proteins have important roles in biological processes and are the direct
targets of many drugs, the genetic factors that control inter-individual variation in plasma …

[HTML][HTML] The allelic landscape of human blood cell trait variation and links to common complex disease

WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa… - Cell, 2016 - cell.com
Many common variants have been associated with hematological traits, but identification of
causal genes and pathways has proven challenging. We performed a genome-wide …

[HTML][HTML] Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters

BM Javierre, OS Burren, SP Wilder, R Kreuzhuber… - Cell, 2016 - cell.com
Long-range interactions between regulatory elements and gene promoters play key roles in
transcriptional regulation. The vast majority of interactions are uncharted, constituting a …

New genetic loci link adipose and insulin biology to body fat distribution

D Shungin, TW Winkler, DC Croteau-Chonka… - Nature, 2015 - nature.com
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic
outcomes, independent of overall adiposity. To increase our understanding of the genetic …

Detection and interpretation of shared genetic influences on 42 human traits

JK Pickrell, T Berisa, JZ Liu, L Ségurel, JY Tung… - Nature …, 2016 - nature.com
We performed a scan for genetic variants associated with multiple phenotypes by comparing
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …

[HTML][HTML] Detection of early stage pancreatic cancer using 5-hydroxymethylcytosine signatures in circulating cell free DNA

GD Guler, Y Ning, CJ Ku, T Phillips, E McCarthy… - Nature …, 2020 - nature.com
Pancreatic cancer is often detected late, when curative therapies are no longer possible.
Here, we present non-invasive detection of pancreatic ductal adenocarcinoma (PDAC) by 5 …