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CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation

by: Nataly Manjarrez-Orduno, Emiliano Marasco, Sharon A. Chung, Matthew S. Katz, Jenna F. Kiridly, Kim R. Simpfendorfer, Jan Freudenberg, David H. Ballard, Emil Nashi, Thomas J. Hopkins, Deborah S. Cunninghame Graham, Annette T. Lee, Marieke J. H. Coenen, Barbara Franke, Dorine W. Swinkels, Robert R. Graham, Robert P. Kimberly, Patrick M. Gaffney, Timothy J. Vyse, Timothy W. Behrens, Lindsey A. Criswell, Betty Diamond, Peter K. Gregersen
Nat Genet, Vol. 44, No. 11. (07 November 2012), pp. 1227-1230, doi:10.1038/ng.2439  Key: citeulike:11608028

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Abstract

Peter Gregersen and colleagues identify a regulatory variant in CSK, coding for an intracellular kinase that physically interacts with Lyp (PTPN22), associated with systemic lupus erythematosus (SLE). Their work suggests that the Lyp-Csk complex influences susceptibility to SLE through regulation of B-cell signaling, maturation and activation.


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