Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits

作者: Paul L Auer , Alexander Teumer , Ursula Schick , Andrew O'Shaughnessy , Ken Sin Lo

DOI: 10.1038/NG.2962

关键词:

摘要: Guillaume Lettre, Alexander Reiner, George Diaz and colleagues use an exome array to identify rare low-frequency coding variants influencing hematological traits. They find several missense in CXCR2 associated with reduced white blood cell counts, and, a separate family-based study, they homozygous frameshift mutation two siblings congenital neutropenia.

参考文章(50)
Steve Rozen, Helen Skaletsky, Primer3 on the WWW for general users and for biologist programmers. Methods of Molecular Biology. ,vol. 132, pp. 365- 386 ,(2000) , 10.1385/1-59259-192-2:365
K Salchow, ME Bond, SC Evans, NJ Press, SJ Charlton, PA Hunt, ME Bradley, A common intracellular allosteric binding site for antagonists of the CXCR2 receptor British Journal of Pharmacology. ,vol. 159, pp. 1429- 1439 ,(2010) , 10.1111/J.1476-5381.2009.00623.X
Robert Kralovics, Francesco Passamonti, Andreas S. Buser, Soon-Siong Teo, Ralph Tiedt, Jakob R. Passweg, Andre Tichelli, Mario Cazzola, Radek C. Skoda, A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders The New England Journal of Medicine. ,vol. 352, pp. 1779- 1790 ,(2005) , 10.1056/NEJMOA051113
Colette M Johnston, Frances L Lovell, Daniel A Leongamornlert, Barbara E Stranger, Emmanouil T Dermitzakis, Mark T Ross, Large-scale population study of human cell lines indicates that dosage compensation is virtually complete. PLOS Genetics. ,vol. 4, ,(2005) , 10.1371/JOURNAL.PGEN.0040009
Tanja Zeller, Philipp Wild, Silke Szymczak, Maxime Rotival, Arne Schillert, Raphaele Castagne, Seraya Maouche, Marine Germain, Karl Lackner, Heidi Rossmann, Medea Eleftheriadis, Christoph R. Sinning, Renate B. Schnabel, Edith Lubos, Detlev Mennerich, Werner Rust, Claire Perret, Carole Proust, Viviane Nicaud, Joseph Loscalzo, Norbert Hübner, David Tregouet, Thomas Münzel, Andreas Ziegler, Laurence Tiret, Stefan Blankenberg, François Cambien, Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility PLoS ONE. ,vol. 5, pp. e10693- ,(2010) , 10.1371/JOURNAL.PONE.0010693
Dajiang J Liu, Gina M Peloso, Xiaowei Zhan, Oddgeir L Holmen, Matthew Zawistowski, Shuang Feng, Majid Nikpay, Paul L Auer, Anuj Goel, He Zhang, Ulrike Peters, Martin Farrall, Marju Orho-Melander, Charles Kooperberg, Ruth McPherson, Hugh Watkins, Cristen J Willer, Kristian Hveem, Olle Melander, Sekar Kathiresan, Gonçalo R Abecasis, Meta-analysis of gene-level tests for rare variant association Nature Genetics. ,vol. 46, pp. 200- 204 ,(2014) , 10.1038/NG.2852
Elizabeth R. Macari, Christopher H. Lowrey, Induction of human fetal hemoglobin via the NRF2 antioxidant response signaling pathway. Blood. ,vol. 117, pp. 5987- 5997 ,(2011) , 10.1182/BLOOD-2010-10-314096
Mark B Gerstein, Anshul Kundaje, Manoj Hariharan, Stephen G Landt, Koon-Kiu Yan, Chao Cheng, Xinmeng Jasmine Mu, Ekta Khurana, Joel Rozowsky, Roger Alexander, Renqiang Min, Pedro Alves, Alexej Abyzov, Nick Addleman, Nitin Bhardwaj, Alan P Boyle, Philip Cayting, Alexandra Charos, David Z Chen, Yong Cheng, Declan Clarke, Catharine Eastman, Ghia Euskirchen, Seth Frietze, Yao Fu, Jason Gertz, Fabian Grubert, Arif Harmanci, Preti Jain, Maya Kasowski, Phil Lacroute, Jing Leng, Jin Lian, Hannah Monahan, Henriette O’Geen, Zhengqing Ouyang, E Christopher Partridge, Dorrelyn Patacsil, Florencia Pauli, Debasish Raha, Lucia Ramirez, Timothy E Reddy, Brian Reed, Minyi Shi, Teri Slifer, Jing Wang, Linfeng Wu, Xinqiong Yang, Kevin Y Yip, Gili Zilberman-Schapira, Serafim Batzoglou, Arend Sidow, Peggy J Farnham, Richard M Myers, Sherman M Weissman, Michael Snyder, None, Architecture of the human regulatory network derived from ENCODE data. Nature. ,vol. 489, pp. 91- 100 ,(2012) , 10.1038/NATURE11245
Peter Černelč, Dušan Andoljšek, Uroš Mlakar, Jože Pretnar, Mojca Modic, Irena P. Zupan, Samo Zver, Effects of molgramostim, filgrastim and lenograstim in the treatment of myelokathexis. Pflügers Archiv: European Journal of Physiology. ,vol. 440, ,(2000) , 10.1007/S004240000014