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Page 1
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
Courtois G, Smahi A, Reichenbach J, Döffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israël A, Munnich A, Le Deist F, Casanova JL. Courtois G, et al. J Clin Invest. 2003 Oct;112(7):1108-15. doi: 10.1172/JCI18714. J Clin Invest. 2003. PMID: 14523047 Free PMC article.
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Döffinger R, Bonnet M, Filipe-Santos O, de Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL. Puel A, et al. Am J Hum Genet. 2006 Apr;78(4):691-701. doi: 10.1086/501532. Epub 2006 Feb 15. Am J Hum Genet. 2006. PMID: 16532398 Free PMC article.
Pyogenic bacterial infections in humans with IRAK-4 deficiency.
Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, Soudais C, Dupuis S, Feinberg J, Fieschi C, Elbim C, Hitchcock R, Lammas D, Davies G, Al-Ghonaium A, Al-Rayes H, Al-Jumaah S, Al-Hajjar S, Al-Mohsen IZ, Frayha HH, Rucker R, Hawn TR, Aderem A, Tufenkeji H, Haraguchi S, Day NK, Good RA, Gougerot-Pocidalo MA, Ozinsky A, Casanova JL. Picard C, et al. Science. 2003 Mar 28;299(5615):2076-9. doi: 10.1126/science.1081902. Epub 2003 Mar 13. Science. 2003. PMID: 12637671
Editorial: Necroptosis: from bench to bedside.
Bonnet MC, Sun L. Bonnet MC, et al. Front Immunol. 2024 Jun 19;15:1441901. doi: 10.3389/fimmu.2024.1441901. eCollection 2024. Front Immunol. 2024. PMID: 38962001 Free PMC article. No abstract available.
TRIM21, a New Component of the TRAIL-Induced Endogenous Necrosome Complex.
Simoes Eugénio M, Faurez F, Kara-Ali GH, Lagarrigue M, Uhart P, Bonnet MC, Gallais I, Com E, Pineau C, Samson M, Le Seyec J, Dimanche-Boitrel MT. Simoes Eugénio M, et al. Among authors: bonnet mc. Front Mol Biosci. 2021 Apr 15;8:645134. doi: 10.3389/fmolb.2021.645134. eCollection 2021. Front Mol Biosci. 2021. PMID: 33937329 Free PMC article.
64 results