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PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.
Sidore C, Orrù V, Cocco E, Steri M, Inshaw JR, Pitzalis M, Mulas A, McGurnaghan S, Frau J, Porcu E, Busonero F, Dei M, Lai S, Sole G, Virdis F, Serra V, Poddie F, Delitala A, Marongiu M, Deidda F, Pala M, Floris M, Masala M, Onengut-Gumuscu S, Robertson CC, Leoni L, Frongia A, Ricciardi MR, Chessa M, Olla N, Lovicu M, Loizedda A, Maschio A, Mereu L, Ferrigno P, Curreli N, Balaci L, Loi F, Ferreli LA, Pilia MG, Pani A, Marrosu MG, Abecasis GR, Rich SS, Colhoun H, Todd JA, Schlessinger D, Fiorillo E, Cucca F, Zoledziewska M. Sidore C, et al. Mult Scler. 2021 Aug;27(9):1332-1340. doi: 10.1177/1352458520963937. Epub 2020 Oct 14. Mult Scler. 2021. PMID: 33566725 Free PMC article.
Recent progress in the genetics of diabetes.
Rich SS, Onengut-Gumuscu S, Concannon P. Rich SS, et al. Horm Res. 2009 Jan;71 Suppl 1:17-23. doi: 10.1159/000178031. Epub 2009 Jan 21. Horm Res. 2009. PMID: 19153499
Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases.
Ferreira RC, Freitag DF, Cutler AJ, Howson JM, Rainbow DB, Smyth DJ, Kaptoge S, Clarke P, Boreham C, Coulson RM, Pekalski ML, Chen WM, Onengut-Gumuscu S, Rich SS, Butterworth AS, Malarstig A, Danesh J, Todd JA. Ferreira RC, et al. PLoS Genet. 2013 Apr;9(4):e1003444. doi: 10.1371/journal.pgen.1003444. Epub 2013 Apr 4. PLoS Genet. 2013. PMID: 23593036 Free PMC article.
Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping.
Wallace C, Cutler AJ, Pontikos N, Pekalski ML, Burren OS, Cooper JD, García AR, Ferreira RC, Guo H, Walker NM, Smyth DJ, Rich SS, Onengut-Gumuscu S, Sawcer SJ, Ban M, Richardson S, Todd JA, Wicker LS. Wallace C, et al. PLoS Genet. 2015 Jun 24;11(6):e1005272. doi: 10.1371/journal.pgen.1005272. eCollection 2015 Jun. PLoS Genet. 2015. PMID: 26106896 Free PMC article.
Contrasting the Genetic Background of Type 1 Diabetes and Celiac Disease Autoimmunity.
Gutierrez-Achury J, Romanos J, Bakker SF, Kumar V, de Haas EC, Trynka G, Ricaño-Ponce I, Steck A; Type 1 Diabetes Genetics Consortium; Chen WM, Onengut-Gumuscu S, Simsek S; Diabeter; Rewers M, Mulder CJ, Liu E, Rich SS, Wijmenga C. Gutierrez-Achury J, et al. Diabetes Care. 2015 Oct;38 Suppl 2(Suppl 2):S37-44. doi: 10.2337/dcs15-2007. Diabetes Care. 2015. PMID: 26405070 Free PMC article.
142 results