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COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide.
Simchoni N, Vogel TP, Shum AK. Simchoni N, et al. Among authors: shum ak. Rheum Dis Clin North Am. 2023 Nov;49(4):789-804. doi: 10.1016/j.rdc.2023.06.005. Epub 2023 Jul 21. Rheum Dis Clin North Am. 2023. PMID: 37821196 Review.
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, Liu L, Stoffels M, Kratina T, Lawlor KE, Zaal KJM, Hoffmann PM, Etemadi N, Shield-Artin K, Biben C, Tsai WL, Blake MD, Kuehn HS, Yang D, Anderton H, Silke N, Wachsmuth L, Zheng L, Moura NS, Beck DB, Gutierrez-Cruz G, Ombrello AK, Pinto-Patarroyo GP, Kueh AJ, Herold MJ, Hall C, Wang H, Chae JJ, Dmitrieva NI, McKenzie M, Light A, Barham BK, Jones A, Romeo TM, Zhou Q, Aksentijevich I, Mullikin JC, Gross AJ, Shum AK, Hawkins ED, Masters SL, Lenardo MJ, Boehm M, Rosenzweig SD, Pasparakis M, Voss AK, Gadina M, Kastner DL, Silke J. Lalaoui N, et al. Among authors: shum ak. Nature. 2020 Jan;577(7788):103-108. doi: 10.1038/s41586-019-1828-5. Epub 2019 Dec 11. Nature. 2020. PMID: 31827281 Free PMC article.
Protein microarray analysis reveals BAFF-binding autoantibodies in systemic lupus erythematosus.
Price JV, Haddon DJ, Kemmer D, Delepine G, Mandelbaum G, Jarrell JA, Gupta R, Balboni I, Chakravarty EF, Sokolove J, Shum AK, Anderson MS, Cheng MH, Robinson WH, Browne SK, Holland SM, Baechler EC, Utz PJ. Price JV, et al. Among authors: shum ak. J Clin Invest. 2013 Dec;123(12):5135-45. doi: 10.1172/JCI70231. Epub 2013 Nov 25. J Clin Invest. 2013. PMID: 24270423 Free PMC article.
Transglutaminase 4 as a prostate autoantigen in male subfertility.
Landegren N, Sharon D, Shum AK, Khan IS, Fasano KJ, Hallgren Å, Kampf C, Freyhult E, Ardesjö-Lundgren B, Alimohammadi M, Rathsman S, Ludvigsson JF, Lundh D, Motrich R, Rivero V, Fong L, Giwercman A, Gustafsson J, Perheentupa J, Husebye ES, Anderson MS, Snyder M, Kämpe O. Landegren N, et al. Among authors: shum ak. Sci Transl Med. 2015 Jun 17;7(292):292ra101. doi: 10.1126/scitranslmed.aaa9186. Sci Transl Med. 2015. PMID: 26084804
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C; Baylor-Hopkins Center for Mendelian Genomics; Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK. Watkin LB, et al. Among authors: shum ak. Nat Genet. 2015 Jun;47(6):654-60. doi: 10.1038/ng.3279. Epub 2015 Apr 20. Nat Genet. 2015. PMID: 25894502 Free PMC article.
Type I interferon pathway activation in COPA syndrome.
Volpi S, Tsui J, Mariani M, Pastorino C, Caorsi R, Sacco O, Ravelli A, Shum AK, Gattorno M, Picco P. Volpi S, et al. Among authors: shum ak. Clin Immunol. 2018 Feb;187:33-36. doi: 10.1016/j.clim.2017.10.001. Epub 2017 Oct 10. Clin Immunol. 2018. PMID: 29030294
Analysis of pulmonary features and treatment approaches in the COPA syndrome.
Tsui JL, Estrada OA, Deng Z, Wang KM, Law CS, Elicker BM, Jones KD, Dell SD, Gudmundsson G, Hansdottir S, Helfgott SM, Volpi S, Gattorno M, Waterfield MR, Chan AY, Chung SA, Ley B, Shum AK. Tsui JL, et al. Among authors: shum ak. ERJ Open Res. 2018 Jun 27;4(2):00017-2018. doi: 10.1183/23120541.00017-2018. eCollection 2018 Apr. ERJ Open Res. 2018. PMID: 29977900 Free PMC article.
45 results