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CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.
Manjarrez-Orduño N, Marasco E, Chung SA, Katz MS, Kiridly JF, Simpfendorfer KR, Freudenberg J, Ballard DH, Nashi E, Hopkins TJ, Cunninghame Graham DS, Lee AT, Coenen MJ, Franke B, Swinkels DW, Graham RR, Kimberly RP, Gaffney PM, Vyse TJ, Behrens TW, Criswell LA, Diamond B, Gregersen PK. Manjarrez-Orduño N, et al. Among authors: simpfendorfer kr. Nat Genet. 2012 Nov;44(11):1227-30. doi: 10.1038/ng.2439. Epub 2012 Oct 7. Nat Genet. 2012. PMID: 23042117 Free PMC article.
Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.
Gregersen PK, Kosoy R, Lee AT, Lamb J, Sussman J, McKee D, Simpfendorfer KR, Pirskanen-Matell R, Piehl F, Pan-Hammarstrom Q, Verschuuren JJ, Titulaer MJ, Niks EH, Marx A, Ströbel P, Tackenberg B, Pütz M, Maniaol A, Elsais A, Tallaksen C, Harbo HF, Lie BA, Raychaudhuri S, de Bakker PI, Melms A, Garchon HJ, Willcox N, Hammarstrom L, Seldin MF. Gregersen PK, et al. Among authors: simpfendorfer kr. Ann Neurol. 2012 Dec;72(6):927-35. doi: 10.1002/ana.23691. Epub 2012 Oct 10. Ann Neurol. 2012. PMID: 23055271 Free PMC article.
Influence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study.
Simpfendorfer KR, Li W, Shih A, Wen H, Kothari HP, Einsidler EA, Wuster A, Hunkapiller J, Behrens TW, Graham RR, Townsend MJ, Behar DM, Hu R, Greenspan E, Gregersen PK. Simpfendorfer KR, et al. Mol Genet Metab Rep. 2019 Apr 6;19:100470. doi: 10.1016/j.ymgmr.2019.100470. eCollection 2019 Jun. Mol Genet Metab Rep. 2019. PMID: 30997344 Free PMC article.
21 results