Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Autor: Romina Petersen, John J. Lambourne, Biola M. Javierre, Luigi Grassi, Roman Kreuzhuber, Dace Ruklisa, Isabel M. Rosa, Ana R. Tomé, Heather Elding, Johanna P. van Geffen, Tao Jiang, Samantha Farrow, Jonathan Cairns, Abeer M. Al-Subaie, Sofie Ashford, Antony Attwood, Joana Batista, Heleen Bouman, Frances Burden, Fizzah A. Choudry, Laura Clarke, Paul Flicek, Stephen F. Garner, Matthias Haimel, Carly Kempster, Vasileios Ladopoulos, An-Sofie Lenaerts, Paulina M. Materek, Harriet McKinney, Stuart Meacham, Daniel Mead, Magdolna Nagy, Christopher J. Penkett, Augusto Rendon, Denis Seyres, Benjamin Sun, Salih Tuna, Marie-Elise van der Weide, Steven W. Wingett, Joost H. Martens, Oliver Stegle, Sylvia Richardson, Ludovic Vallier, David J. Roberts, Kathleen Freson, Lorenz Wernisch, Hendrik G. Stunnenberg, John Danesh, Peter Fraser, Nicole Soranzo, Adam S. Butterworth, Johan W. Heemskerk, Ernest Turro, Mikhail Spivakov, Willem H. Ouwehand, William J. Astle, Kate Downes, Myrto Kostadima, Mattia Frontini

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)

Numerous genetic variants, including those located in the non-coding regions of the genome, are known to be associated with blood cells traits. Here, Frontini and colleagues investigate their potential regulatory functions using epigenomic data and p

Externí odkaz: https://doaj.org/article/2c4a1a97d70840748bc7d87203e84d18

Multiple loci are associated with white blood cell phenotypes.

Autor: Michael A Nalls, David J Couper, Toshiko Tanaka, Frank J A van Rooij, Ming-Huei Chen, Albert V Smith, Daniela Toniolo, Neil A Zakai, Qiong Yang, Andreas Greinacher, Andrew R Wood, Melissa Garcia, Paolo Gasparini, Yongmei Liu, Thomas Lumley, Aaron R Folsom, Alex P Reiner, Christian Gieger, Vasiliki Lagou, Janine F Felix, Henry Völzke, Natalia A Gouskova, Alessandro Biffi, Angela Döring, Uwe Völker, Sean Chong, Kerri L Wiggins, Augusto Rendon, Abbas Dehghan, Matt Moore, Kent Taylor, James G Wilson, Guillaume Lettre, Albert Hofman, Joshua C Bis, Nicola Pirastu, Caroline S Fox, Christa Meisinger, Jennifer Sambrook, Sampath Arepalli, Matthias Nauck, Holger Prokisch, Jonathan Stephens, Nicole L Glazer, L Adrienne Cupples, Yukinori Okada, Atsushi Takahashi, Yoichiro Kamatani, Koichi Matsuda, Tatsuhiko Tsunoda, Toshihiro Tanaka, Michiaki Kubo, Yusuke Nakamura, Kazuhiko Yamamoto, Naoyuki Kamatani, Michael Stumvoll, Anke Tönjes, Inga Prokopenko, Thomas Illig, Kushang V Patel, Stephen F Garner, Brigitte Kuhnel, Massimo Mangino, Ben A Oostra, Swee Lay Thein, Josef Coresh, H-Erich Wichmann, Stephan Menzel, JingPing Lin, Giorgio Pistis, André G Uitterlinden, Tim D Spector, Alexander Teumer, Gudny Eiriksdottir, Vilmundur Gudnason, Stefania Bandinelli, Timothy M Frayling, Aravinda Chakravarti, Cornelia M van Duijn, David Melzer, Willem H Ouwehand, Daniel Levy, Eric Boerwinkle, Andrew B Singleton, Dena G Hernandez, Dan L Longo, Nicole Soranzo, Jacqueline C M Witteman, Bruce M Psaty, Luigi Ferrucci, Tamara B Harris, Christopher J O'Donnell, Santhi K Ganesh

Publikováno v: PLoS Genetics, Vol 7, Iss 6, p e1002113 (2011)

White blood cell (WBC) count is a common clinical measure from complete blood count assays, and it varies widely among healthy individuals. Total WBC count and its constituent subtypes have been shown to be moderately heritable, with the heritability

Externí odkaz: https://doaj.org/article/4609dc82c7f6406db499ad223bf6fcca

S-Nitrosoglutathione improves haemodynamics in early-onset pre-eclampsia

Autor: Thomas R. Everett, Carmel M. McEniery, Ian B. Wilkinson, Christoph Lees, Alison H. Goodall, Stephen F. Garner, Amita A. Mahendru

Publikováno v: British Journal of Clinical Pharmacology. 78:660-669

Aims To determine the effects of in vivo S-nitrosoglutathione (GSNO) infusion on cardiovascular function, platelet function, proteinuria and biomarker parameters in early-onset pre-eclampsia. Methods We performed an open-label dose-ranging study of G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e2633bc0f85bd6c3ae7b9a96a2b3e225
https://doi.org/10.1111/bcp.12379

Recombinant HPA-1a antibody therapy for treatment of fetomaternal alloimmune thrombocytopenia: proof of principle in human volunteers

Autor: Mike Clark, Kottekkattu Balan, Louise Hawkins, Amanda C. Evans, Kathryn L. Armour, Nicola Grehan, Lorna M. Williamson, Stephen F. Garner, Cedric Ghevaert, Paul Lloyd-Evans, Nina Herbert, Abigail Crisp-Hihn, Philip Cookson, Willem H. Ouwehand

Publikováno v: Blood. 122:313-320

Fetomaternal alloimmune thrombocytopenia, caused by the maternal generation of antibodies against fetal human platelet antigen-1a (HPA-1a), can result in intracranial hemorrhage and intrauterine death. We have developed a therapeutic human recombinan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28455e119ebc5951ba2ca830ea69c789
https://doi.org/10.1182/blood-2013-02-481887

A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways

Autor: Willem H. Ouwehand, Nilesh J. Samani, Panos Deloukas, Frank Dudbridge, Jan-Willem N. Akkerman, Sarah L. Bray, Alison J. Coffey, Michael Steward, Marc Hoylaerts, Jonathan Stephens, Catherine M. Rice, Angela Rankin, Alison H. Goodall, Nicholas A. Watkins, Stephen F. Garner, Adam Walker, Philippa Burns, David Bentley, Jane Rogers, Richard W. Farndale, Chris I. Jones, Mark E. Earthrowl, W. Angenent, Kerstin Koch, Bernard de Bono

Publikováno v: Blood. 114:1405-1416

Platelet response to activation varies widely between individuals but shows interindividual consistency and strong heritability. The genetic basis of this variation has not been properly explored. We therefore systematically measured the effect on fu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754778b171d8f70653c2447c3cd566aa
https://doi.org/10.1182/blood-2009-02-202614