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The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
Stock AJ, Gonzalez Paredes P, de Almeida LP, Kosanke SD, Chetlur S, Budde H, Wakenight P, Zwingman TA, Rosen ABI, Allenspach EJ, Millen KJ, Buckner JH, Rawlings DJ, Gorman JA. Stock AJ, et al. Among authors: gorman ja. Front Immunol. 2024 Feb 29;15:1349601. doi: 10.3389/fimmu.2024.1349601. eCollection 2024. Front Immunol. 2024. PMID: 38487540 Free PMC article.
The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis.
Allenspach EJ, Shubin NJ, Cerosaletti K, Mikacenic C, Gorman JA, MacQuivey MA, Rosen ABI, Timms AE, Wray-Dutra MN, Niino K, Liggitt D, Wurfel MM, Buckner JH, Piliponsky AM, Rawlings DJ. Allenspach EJ, et al. Among authors: gorman ja. J Immunol. 2021 Dec 1;207(11):2710-2719. doi: 10.4049/jimmunol.2100454. Epub 2021 Nov 5. J Immunol. 2021. PMID: 34740959 Free PMC article.
Germline SAMD9L truncation variants trigger global translational repression.
Allenspach EJ, Soveg F, Finn LS, So L, Gorman JA, Rosen ABI, Skoda-Smith S, Wheeler MM, Barrow KA, Rich LM, Debley JS, Bamshad MJ, Nickerson DA, Savan R, Torgerson TR, Rawlings DJ. Allenspach EJ, et al. Among authors: gorman ja. J Exp Med. 2021 May 3;218(5):e20201195. doi: 10.1084/jem.20201195. J Exp Med. 2021. PMID: 33724365 Free PMC article.
The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity.
Gorman JA, Hundhausen C, Errett JS, Stone AE, Allenspach EJ, Ge Y, Arkatkar T, Clough C, Dai X, Khim S, Pestal K, Liggitt D, Cerosaletti K, Stetson DB, James RG, Oukka M, Concannon P, Gale M Jr, Buckner JH, Rawlings DJ. Gorman JA, et al. Nat Immunol. 2017 Jul;18(7):744-752. doi: 10.1038/ni.3766. Epub 2017 May 29. Nat Immunol. 2017. PMID: 28553952 Free PMC article.