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Microglia maintain structural integrity during fetal brain morphogenesis.
Lawrence AR, Canzi A, Bridlance C, Olivié N, Lansonneur C, Catale C, Pizzamiglio L, Kloeckner B, Silvin A, Munro DAD, Fortoul A, Boido D, Zehani F, Cartonnet H, Viguier S, Oller G, Squarzoni P, Candat A, Helft J, Allet C, Watrin F, Manent JB, Paoletti P, Thieffry D, Cantini L, Pridans C, Priller J, Gélot A, Giacobini P, Ciobanu L, Ginhoux F, Thion MS, Lokmane L, Garel S. Lawrence AR, et al. Among authors: gelot a. Cell. 2024 Feb 15;187(4):962-980.e19. doi: 10.1016/j.cell.2024.01.012. Epub 2024 Feb 2. Cell. 2024. PMID: 38309258 Free PMC article.
First reports of fetal SMARCC1 related hydrocephalus.
Rive Le Gouard N, Nicolle R, Lefebvre M, Gelot A, Heide S, Gerasimenko A, Grigorescu R, Derive N, Jouannic JM, Garel C, Valence S, Quenum-Miraillet G, Chantot-Bastaraud S, Keren B, Heron D, Attie-Bitach T. Rive Le Gouard N, et al. Among authors: gelot a. Eur J Med Genet. 2023 Aug;66(8):104797. doi: 10.1016/j.ejmg.2023.104797. Epub 2023 Jun 5. Eur J Med Genet. 2023. PMID: 37285932 Review.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Juliá-Palacios N, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, García-Cazorla À, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E, Pujol A. Planas-Serra L, et al. Among authors: gelot a. J Clin Invest. 2023 May 15;133(10):e162957. doi: 10.1172/JCI162957. J Clin Invest. 2023. PMID: 36951944 Free PMC article.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC, Ribeiro BFR, Pires DEV, Ascher DB, Schmitt A, Rambaud C, Represa A, Xie HM, Lusk L, Wilmarth O, McDonnell PP, Juarez OA, Grace AN, Buratti J, Mignot C, Gras D, Nava C, Pierce SR, Keren B, Kennedy BC, Pena SDJ, Helbig I, Cuddapah VA. Parthasarathy S, et al. Among authors: gelot a. Am J Hum Genet. 2022 Dec 1;109(12):2253-2269. doi: 10.1016/j.ajhg.2022.11.002. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413998 Free PMC article.
In mice and humans, brain microvascular contractility matures postnatally.
Slaoui L, Gilbert A, Rancillac A, Delaunay-Piednoir B, Chagnot A, Gerard Q, Letort G, Mailly P, Robil N, Gelot A, Lefebvre M, Favier M, Dias K, Jourdren L, Federici L, Auvity S, Cisternino S, Vivien D, Cohen-Salmon M, Boulay AC. Slaoui L, et al. Among authors: gelot a. Brain Struct Funct. 2023 Mar;228(2):475-492. doi: 10.1007/s00429-022-02592-w. Epub 2022 Nov 16. Brain Struct Funct. 2023. PMID: 36380034
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