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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. Among authors: bonnet m. 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. Among authors: bonnet m. Science. 2003 Mar 28;299(5615):2076-9. doi: 10.1126/science.1081902. Epub 2003 Mar 13. Science. 2003. PMID: 12637671
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. Among authors: bonnet m. J Clin Invest. 2003 Oct;112(7):1108-15. doi: 10.1172/JCI18714. J Clin Invest. 2003. PMID: 14523047 Free PMC article.
Stool processing methods for Xpert Ultra testing in childhood tuberculosis: A prospective, multi-country accuracy study.
Jaganath D, Nabeta P, Nicol MP, Castro R, Wambi P, Zar HJ, Workman L, Lodha R, Singh UB, Bavdekar A, Sanghavi S, Trollip A, Mace A, Bonnet M, Lounnas M, de Haas P, Tiemersma E, Alland D, Banada P, Cattamanchi A, Ruhwald M, Wobudeya E, Denkinger CM. Jaganath D, et al. Among authors: bonnet m. medRxiv [Preprint]. 2024 Dec 18:2024.12.17.24317956. doi: 10.1101/2024.12.17.24317956. medRxiv. 2024. PMID: 39763536 Free PMC article. Preprint.
Strontium isoscape of sub-Saharan Africa allows tracing origins of victims of the transatlantic slave trade.
Wang X, Bocksberger G, Arandjelovic M, Agbor A, Angedakin S, Aubert F, Ayimisin EA, Bailey E, Barubiyo D, Bessone M, Bobe R, Bonnet M, Boucher R, Brazzola G, Brewer S, Lee KC, Carvalho S, Chancellor R, Cipoletta C, Cohen H, Copeland SR, Corogenes K, Costa AM, Coupland C, Curran B, de Ruiter DJ, Deschner T, Dieguez P, Dierks K, Dilambaka E, Dowd D, Dunn A, Egbe VE, Finckh M, Fruth B, Gijanto L, Yuh YG, Goedmakers A, Gokee C, Gomes Coelho R, Goodman AH, Granjon AC, Grimes V, Grueter CC, Haour A, Hedwig D, Hermans V, Hernandez-Aguilar RA, Hohmann G, Imong I, Jeffery KJ, Jones S, Junker J, Kadam P, Kambere M, Kambi M, Kienast I, Knudson KJ, Langergraber KE, Lapeyre V, Lapuente J, Larson B, Lautenschläger T, le Roux P, Leinert V, Llana M, Logan A, Lowry B, Lüdecke T, Maretti G, Marrocoli S, Fernandez R, McNeill PJ, Meier AC, Meller P, Monroe JC, Morgan D, Mulindahabi F, Murai M, Neil E, Nicholl S, Niyigaba P, Normand E, Ormsby LJ, Diotoh O, Pacheco L, Piel A, Preece J, Regnaut S, Richard FG, Richards MP, Rundus A, Sanz C, Sommer V, Sponheimer M, Steele TE, Stewart FA, Tagg N, Tédonzong LR, Tickle A, Toubga L, van Schijndel J, Vergnes V, Njomen NW, Wessling EG, Willie J, Wittig R… See abstract for full author list ➔ Wang X, et al. Among authors: bonnet m. Nat Commun. 2024 Dec 30;15(1):10891. doi: 10.1038/s41467-024-55256-0. Nat Commun. 2024. PMID: 39738027 Free PMC article.
1,270 results