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Ptpn22 and Cd2 Variations Are Associated with Altered Protein Expression and Susceptibility to Type 1 Diabetes in Nonobese Diabetic Mice.
Fraser HI, Howlett S, Clark J, Rainbow DB, Stanford SM, Wu DJ, Hsieh YW, Maine CJ, Christensen M, Kuchroo V, Sherman LA, Podolin PL, Todd JA, Steward CA, Peterson LB, Bottini N, Wicker LS. Fraser HI, et al. Among authors: bottini n. J Immunol. 2015 Nov 15;195(10):4841-52. doi: 10.4049/jimmunol.1402654. Epub 2015 Oct 5. J Immunol. 2015. PMID: 26438525 Free PMC article.
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus.
Orrú V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J, Hartiala J, Zhao L, Ortego-Centeno N, D'Alfonso S; Italian Collaborative Group; Arnett FC, Wu H, Gonzalez-Gay MA, Tsao BP, Pons-Estel B, Alarcon-Riquelme ME, He Y, Zhang ZY, Allayee H, Chen XS, Martin J, Bottini N. Orrú V, et al. Among authors: bottini n. Hum Mol Genet. 2009 Feb 1;18(3):569-79. doi: 10.1093/hmg/ddn363. Epub 2008 Nov 3. Hum Mol Genet. 2009. PMID: 18981062 Free PMC article.
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich HA, Julier C, Morahan G, Nerup J, Nierras C, Plagnol V, Pociot F, Schuilenburg H, Smyth DJ, Stevens H, Todd JA, Walker NM, Rich SS; Type 1 Diabetes Genetics Consortium. Barrett JC, et al. Nat Genet. 2009 Jun;41(6):703-7. doi: 10.1038/ng.381. Epub 2009 May 10. Nat Genet. 2009. PMID: 19430480 Free PMC article.
Autoimmune-associated PTPN22 R620W variation reduces phosphorylation of lymphoid phosphatase on an inhibitory tyrosine residue.
Fiorillo E, Orrú V, Stanford SM, Liu Y, Salek M, Rapini N, Schenone AD, Saccucci P, Delogu LG, Angelini F, Manca Bitti ML, Schmedt C, Chan AC, Acuto O, Bottini N. Fiorillo E, et al. Among authors: bottini n. J Biol Chem. 2010 Aug 20;285(34):26506-18. doi: 10.1074/jbc.M110.111104. Epub 2010 Jun 9. J Biol Chem. 2010. PMID: 20538612 Free PMC article.
188 results