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Rare variant associations with plasma protein levels in the UK Biobank
Integrating human genomics and proteomics can help elucidate disease mechanisms,
identify clinical biomarkers and discover drug targets,,–. Because previous proteogenomic …
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
pathophysiology of cerebral small vessel disease (SVD). However, whether they are causal …