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Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Zhong FL, Mamaï O, Sborgi L, Boussofara L, Hopkins R, Robinson K, Szeverényi I, Takeichi T, Balaji R, Lau A, Tye H, Roy K, Bonnard C, Ahl PJ, Jones LA, Baker PJ, Lacina L, Otsuka A, Fournie PR, Malecaze F, Lane EB, Akiyama M, Kabashima K, Connolly JE, Masters SL, Soler VJ, Omar SS, McGrath JA, Nedelcu R, Gribaa M, Denguezli M, Saad A, Hiller S, Reversade B. Zhong FL, et al. Cell. 2016 Sep 22;167(1):187-202.e17. doi: 10.1016/j.cell.2016.09.001. Cell. 2016. PMID: 27662089 Free article.
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.
Chourabi M, Liew MS, Lim S, H'mida-Ben Brahim D, Boussofara L, Dai L, Wong PM, Foo JN, Sriha B, Robinson KS, Denil S, Common JE, Mamaï O, Ben Khalifa Y, Bollen M, Liu J, Denguezli M, Bonnard C, Saad A, Reversade B. Chourabi M, et al. Among authors: robinson ks. J Invest Dermatol. 2018 Feb;138(2):291-300. doi: 10.1016/j.jid.2017.08.045. Epub 2017 Sep 28. J Invest Dermatol. 2018. PMID: 28964717 Free article.
Mechanistic basis for potassium efflux-driven activation of the human NLRP1 inflammasome.
Rozario P, Pinilla M, Gorse L, Vind AC, Robinson KS, Toh GA, Firdaus MJ, Martínez JF, Kerk SK, Lin Z, Chambers JC, Bekker-Jensen S, Meunier E, Zhong F. Rozario P, et al. Among authors: robinson ks. Proc Natl Acad Sci U S A. 2024 Jan 9;121(2):e2309579121. doi: 10.1073/pnas.2309579121. Epub 2024 Jan 4. Proc Natl Acad Sci U S A. 2024. PMID: 38175865
96 results