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Diffuse Endocapillary Glomerulonephritis in a Child With IL-17RA Deficiency Emphasizes the Pivotal Role of the Complement Cascade and Anaphylatoxins.
d'Izarny-Gargas T, Grapin M, Grunenwald A, Duong-Van-Huyen JP, Rabant M, Lévy R, Puel A, Toubiana J, Boyer O, Frémeaux-Bacchi V, Charbit M, Isnard P. d'Izarny-Gargas T, et al. Among authors: boyer o. Kidney Int Rep. 2023 Aug 26;8(11):2488-2491. doi: 10.1016/j.ekir.2023.08.022. eCollection 2023 Nov. Kidney Int Rep. 2023. PMID: 38025236 Free PMC article. No abstract available.
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Billette de Villemeur T, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M. Gonçalves S, et al. Among authors: boyer o. PLoS Genet. 2018 May 16;14(5):e1007386. doi: 10.1371/journal.pgen.1007386. eCollection 2018 May. PLoS Genet. 2018. PMID: 29768408 Free PMC article.
364 results