Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2015 3
2016 1
2017 1
2018 2
2019 1
2020 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
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. 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.
Rare variants, autoimmune disease, and arthritis.
Chung SA, Shum AK. Chung SA, et al. Curr Opin Rheumatol. 2016 Jul;28(4):346-51. doi: 10.1097/BOR.0000000000000298. Curr Opin Rheumatol. 2016. PMID: 27224741 Free PMC article. Review.
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. 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.
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. Clin Immunol. 2018 Feb;187:33-36. doi: 10.1016/j.clim.2017.10.001. Epub 2017 Oct 10. Clin Immunol. 2018. PMID: 29030294
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. 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.