Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus

Autor: Adrienne Tin, Pascal Schlosser, Pamela R. Matias-Garcia, Chris H. L. Thio, Roby Joehanes, Hongbo Liu, Zhi Yu, Antoine Weihs, Anselm Hoppmann, Franziska Grundner-Culemann, Josine L. Min, Victoria L. Halperin Kuhns, Adebowale A. Adeyemo, Charles Agyemang, Johan Ärnlöv, Nasir A. Aziz, Andrea Baccarelli, Murielle Bochud, Hermann Brenner, Jan Bressler, Monique M. B. Breteler, Cristian Carmeli, Layal Chaker, Josef Coresh, Tanguy Corre, Adolfo Correa, Simon R. Cox, Graciela E. Delgado, Kai-Uwe Eckardt, Arif B. Ekici, Karlhans Endlich, James S. Floyd, Eliza Fraszczyk, Xu Gao, Xīn Gào, Allan C. Gelber, Mohsen Ghanbari, Sahar Ghasemi, Christian Gieger, Philip Greenland, Megan L. Grove, Sarah E. Harris, Gibran Hemani, Peter Henneman, Christian Herder, Steve Horvath, Lifang Hou, Mikko A. Hurme, Shih-Jen Hwang, Sharon L. R. Kardia, Silva Kasela, Marcus E. Kleber, Wolfgang Koenig, Jaspal S. Kooner, Florian Kronenberg, Brigitte Kühnel, Christine Ladd-Acosta, Terho Lehtimäki, Lars Lind, Dan Liu, Donald M. Lloyd-Jones, Stefan Lorkowski, Ake T. Lu, Riccardo E. Marioni, Winfried März, Daniel L. McCartney, Karlijn A. C. Meeks, Lili Milani, Pashupati P. Mishra, Matthias Nauck, Christoph Nowak, Annette Peters, Holger Prokisch, Bruce M. Psaty, Olli T. Raitakari, Scott M. Ratliff, Alex P. Reiner, Ben Schöttker, Joel Schwartz, Sanaz Sedaghat, Jennifer A. Smith, Nona Sotoodehnia, Hannah R. Stocker, Silvia Stringhini, Johan Sundström, Brenton R. Swenson, Joyce B. J. van Meurs, Jana V. van Vliet-Ostaptchouk, Andrea Venema, Uwe Völker, Juliane Winkelmann, Bruce H. R. Wolffenbuttel, Wei Zhao, Yinan Zheng, The Estonian Biobank Research Team, The Genetics of DNA Methylation Consortium, Marie Loh, Harold Snieder, Melanie Waldenberger, Daniel Levy, Shreeram Akilesh, Owen M. Woodward, Katalin Susztak, Alexander Teumer, Anna Köttgen

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)

Serum urate concentration can be studied in large datasets to find genetic and epigenetic loci that may be related to cardiometabolic traits. Here the authors identify and replicate 100 urate-associated CpGs, which provide insights into urate GWAS lo

Externí odkaz: https://doaj.org/article/34e5ed6ae9ad4343931586438a0971b4

Renal Transcriptional Profiles of Hyperuricemic Mouse Models Reveal Urate Dependent Alternations in Metabolic Pathways

Autor: Victoria L. Halperin Kuhns, Allison C. Lane‐Harris, Owen M. Woodward

Publikováno v: The FASEB Journal. 36

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bf72551455c344f6e9aac0d0be0397a2
https://doi.org/10.1096/fasebj.2022.36.s1.r5485

Urate Transport in Health and Disease

Autor: Victoria L. Halperin Kuhns, Owen M. Woodward

Publikováno v: Best Pract Res Clin Rheumatol

Circulating urate levels are determined by the balance between urate production and excretion, a homeostasis regulated by the function of urate transporters in key epithelial tissues and cell types. Our understanding of these physiological processes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0fbd512b4a50f0120970a6311fa5864
https://europepmc.org/articles/PMC8678298/

GDNF drives rapid tubule morphogenesis in novel 3D in vitro model for ADPKD

Autor: Patricia Outeda, Victoria L. Halperin Kuhns, Eryn E. Dixon, Terry Watnick, Owen M. Woodward, Paul A. Welling, Demetrios S. Maxim, Andrew J. Ewald, Allison C. Lane-Harris

Publikováno v: Journal of Cell Science.

Cystogenesis is a morphological consequence of numerous genetic diseases of the epithelium. In the kidney, the pathogenic mechanisms underlying the program of altered cell and tubule morphology are obscured by secondary effects of cyst expansion. Her

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::df29ac6ce129175701ac12eaec165af5
https://doi.org/10.1242/jcs.249557

The ABCG2 Q141K hyperuricemia and gout associated variant illuminates the physiology of human urate excretion

Autor: Kazi Mirajul, Hoque, Eryn E, Dixon, Raychel M, Lewis, Jordyn, Allan, Gregory D, Gamble, Amanda J, Phipps-Green, Victoria L, Halperin Kuhns, Anne M, Horne, Lisa K, Stamp, Tony R, Merriman, Nicola, Dalbeth, Owen M, Woodward

Publikováno v: Nature communications. 11(1)

The pathophysiological nature of the common ABCG2 gout and hyperuricemia associated variant Q141K (rs2231142) remains undefined. Here, we use a human interventional cohort study (ACTRN12615001302549) to understand the physiological role of ABCG2 and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eee18aa7a2b22f8ecdc7d14f37f028bb
https://pubmed.ncbi.nlm.nih.gov/33390224