Rare variant associations with plasma protein levels in the UK Biobank

RS Dhindsa, OS Burren, BB Sun, BP Prins, D Matelska… - Nature, 2023 - nature.com
Integrating human genomics and proteomics can help elucidate disease mechanisms,
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …

Decoding the therapeutic target SVEP1: harnessing molecular trait GWASs to unravel mechanisms of human disease

JS Elenbaas, PC Lee, V Patel… - Annual Review of …, 2025 - annualreviews.org
Although human genetics has substantial potential to illuminate novel disease pathways
and facilitate drug development, identifying causal variants and deciphering their …

Using genomics to identify novel therapeutic targets for aortic disease

A Raghavan, JP Pirruccello, PT Ellinor… - … , and Vascular Biology, 2024 - ahajournals.org
Aortic disease, including dissection, aneurysm, and rupture, carries significant morbidity and
mortality and is a notable cause of sudden cardiac death. Much of our knowledge regarding …

[HTML][HTML] SVEP1 influences monocyte to macrophage differentiation via integrin α4β1/α9β1 and Rho/Rac signalling

SL Andrews, M Ghaderi-Najafabadi, P Gong… - … et Biophysica Acta (BBA …, 2023 - Elsevier
Background The large extracellular matrix protein SVEP1 mediates cell adhesion via
integrin α9β1. Recent studies have identified an association between a missense variant in …

Instrumental variable and colocalization analyses identify endotrophin and HTRA1 as potential therapeutic targets for coronary artery disease

PC Lee, IH Jung, S Thussu, V Patel, R Wagoner… - Iscience, 2024 - cell.com
Coronary artery disease (CAD) remains a leading cause of disease burden globally, and
there is a persistent need for new therapeutic targets. Instrumental variable (IV) and genetic …

LOXL2-induced PEAR1 Ser891 phosphorylation suppresses CD44 degradation and promotes triple-negative breast cancer metastasis

Y Shen, J Yan, L Li, H Sun, L Zhang, G Li, X Wang… - The Journal of Clinical …, 2024 - jci.org
CD44 is associated with a high risk of metastasis, recurrence, and drug resistance in various
cancers. Here we report that platelet endothelial aggregation receptor 1 (PEAR1) is a CD44 …

Aptamer Proteomics for Biomarker Discovery in Heart Failure With Preserved Ejection Fraction: The PARAGON‐HF Proteomic Substudy

NL Patel‐Murray, L Zhang, BL Claggett… - Journal of the …, 2024 - ahajournals.org
Background Prognostic markers and biological pathways linked to detrimental clinical
outcomes in heart failure with preserved ejection fraction (HFpEF) remain incompletely …

[HTML][HTML] Trivalent nanobody-based ligands mediate powerful activation of GPVI, CLEC-2, and PEAR1 in human platelets whereas FcγRIIA requires a tetravalent ligand

EM Martin, JC Clark, SJ Montague, LA Morán… - Journal of Thrombosis …, 2024 - Elsevier
Background Clustering of the receptors glycoprotein receptor VI (GPVI), C-type lectin-like
receptor 2 (CLEC-2), low-affinity immunoglobulin γ Fc region receptor II-a (FcγRIIA), and …

A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk

H Verdier, P Thomas, J Batista, C Kempster… - Blood, 2023 - ashpublications.org
Genetic studies of platelet reactivity (PR) phenotypes may identify novel antiplatelet drug
targets. However, such studies have been limited by small sample sizes (n< 5000) because …

Proteins involved in endothelial function and inflammation are implicated in cerebral small vessel disease

Z Sun, EL Harshfield, FE de Leeuw, S Burgess… - Stroke, 2025 - ahajournals.org
BACKGROUND: Endothelial dysfunction and inflammation have been implicated in the
pathophysiology of cerebral small vessel disease (SVD). However, whether they are causal …