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Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Bayam E, Tilly P, Collins SC, Rivera Alvarez J, Kannan M, Tonneau L, Brivio E, Rinaldi B, Lecat R, Schwaller N, Cotellessa L, Maddirevula S, Monteiro F, Guardia CM, Kitajima JP, Kok F, Kato M, Hamed AAA, Salih MA, Al Tala S, Hashem MO, Tada H, Saitsu H, Stabile M, Giacobini P, Friant S, Yüksel Z, Nakashima M, Alkuraya FS, Yalcin B, Godin JD. Bayam E, et al. Among authors: friant s. EMBO Mol Med. 2025 Jan;17(1):129-168. doi: 10.1038/s44321-024-00178-z. Epub 2024 Nov 28. EMBO Mol Med. 2025. PMID: 39609633 Free PMC article.
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Kannan M, Bayam E, Wagner C, Rinaldi B, Kretz PF, Tilly P, Roos M, McGillewie L, Bär S, Minocha S, Chevalier C, Po C; Sanger Mouse Genetics Project; Chelly J, Mandel JL, Borgatti R, Piton A, Kinnear C, Loos B, Adams DJ, Hérault Y, Collins SC, Friant S, Godin JD, Yalcin B. Kannan M, et al. Among authors: friant s. Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9308-E9317. doi: 10.1073/pnas.1713625114. Epub 2017 Oct 12. Proc Natl Acad Sci U S A. 2017. PMID: 29078390 Free PMC article.
Cex1 is a component of the COPI intracellular trafficking machinery.
Enkler L, Rinaldi B, de Craene JO, Hammann P, Nureki O, Senger B, Friant S, Becker HD. Enkler L, et al. Among authors: friant s. Biol Open. 2021 Mar 22;10(3):bio058528. doi: 10.1242/bio.058528. Biol Open. 2021. PMID: 33753324 Free PMC article.
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.
Cowling BS, Prokic I, Tasfaout H, Rabai A, Humbert F, Rinaldi B, Nicot AS, Kretz C, Friant S, Roux A, Laporte J. Cowling BS, et al. Among authors: friant s. J Clin Invest. 2017 Dec 1;127(12):4477-4487. doi: 10.1172/JCI90542. Epub 2017 Nov 13. J Clin Invest. 2017. PMID: 29130937 Free PMC article.
69 results