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Genome-wide association analysis and replication in 810,625 individuals with varicose veins.
Nat Commun
June 2022
Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Botnar Research Centre, Windmill Road, Oxford, OX3 7LD, UK.
Varicose veins affect one-third of Western society, with a significant subset of patients developing venous ulceration, costing $14.9 billion annually in the USA. Current management consists of either compression stockings, or surgical ablation for more advanced disease.
View Article and Find Full Text PDFFUT6 deficiency compromises basophil function by selectively abrogating their sialyl-Lewis x expression.
Commun Biol
July 2021
Singapore Immunology Network (SIgN), A*STAR (Agency for Science, Technology and Research), Singapore, Singapore.
Sialyl-Lewis x (sLe, CD15s) is a tetra-saccharide on the surface of leukocytes required for E-selectin-mediated rolling, a prerequisite for leukocytes to migrate out of the blood vessels. Here we show using flow cytometry that sLe expression on basophils and mast cell progenitors depends on fucosyltransferase 6 (FUT6). Using genetic association data analysis and qPCR, the cell type-specific defect was associated with single nucleotide polymorphisms (SNPs) in the FUT6 gene region (tagged by rs17855739 and rs778798), affecting coding sequence and/or expression level of the mRNA.
View Article and Find Full Text PDFGenetic Consequences of the Transatlantic Slave Trade in the Americas.
Am J Hum Genet
August 2020
23andMe, Inc., Sunnyvale, CA 94043, USA.
According to historical records of transatlantic slavery, traders forcibly deported an estimated 12.5 million people from ports along the Atlantic coastline of Africa between the 16th and 19th centuries, with global impacts reaching to the present day, more than a century and a half after slavery's abolition. Such records have fueled a broad understanding of the forced migration from Africa to the Americas yet remain underexplored in concert with genetic data.
View Article and Find Full Text PDFMolecular heterogeneity in breast carcinoma cells with increased invasive capacities.
Radiol Oncol
February 2020
Medical University of Innsbruck, Therapeutic Radiology and Oncology, Innsbruck, Austria.
Background Metastatic progression of breast cancer is still a challenge in clinical oncology. Therefore, an elucidation how carcinoma cells belonging to different breast cancer subtypes realize their metastatic capacities is needed. The aim of this study was to elucidate a similarity of activated molecular pathways underlying an enhancement of invasiveness of carcinoma cells belonging to different breast carcinoma subtypes.
View Article and Find Full Text PDFRole of Active Surveillance for Localized Small Renal Masses.
Eur Urol Oncol
August 2018
James Buchanan Brady Urological Institute and Department of Urology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Context: Stage migration of organ-confined renal masses is occurring as a result of incidental diagnosis, especially in the elderly. Active surveillance (AS) is gaining clinical traction as a treatment alternative to surgery and focal therapy.
Objective: To assess contemporary data and evaluate AS risk trade-offs in the treatment of organ-confined kidney cancer.
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