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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study; Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J. Broix L, et al. Among authors: keays d. Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3. Nat Genet. 2016. PMID: 27694961 Free PMC article.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS; DDD Collaboration; Kühl SJ, Kini U, McNeill A. Hempel A, et al. Among authors: keays d. J Med Genet. 2016 Mar;53(3):152-62. doi: 10.1136/jmedgenet-2015-103393. Epub 2015 Nov 5. J Med Genet. 2016. PMID: 26543203 Free PMC article.
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.
Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, Represa A, Keays DA, Guerrini R, Falace A, Cardoso C. Conti V, et al. J Vis Exp. 2017 Dec 1;(130):53570. doi: 10.3791/53570. J Vis Exp. 2017. PMID: 29286390 Free PMC article.
MAPping tubulin mutations.
Cushion TD, Leca I, Keays DA. Cushion TD, et al. Among authors: keays da. Front Cell Dev Biol. 2023 Feb 15;11:1136699. doi: 10.3389/fcell.2023.1136699. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36875768 Free PMC article. Review.
Long-term, high-resolution in vivo calcium imaging in pigeons.
Nimpf S, Kaplan HS, Nordmann GC, Cushion T, Keays DA. Nimpf S, et al. Among authors: keays da. Cell Rep Methods. 2024 Feb 26;4(2):100711. doi: 10.1016/j.crmeth.2024.100711. Epub 2024 Feb 20. Cell Rep Methods. 2024. PMID: 38382523 Free PMC article.
Myths in magnetosensation.
Nimpf S, Keays DA. Nimpf S, et al. Among authors: keays da. iScience. 2022 May 23;25(6):104454. doi: 10.1016/j.isci.2022.104454. eCollection 2022 Jun 17. iScience. 2022. PMID: 35677648 Free PMC article. Review.
Quantum magnetic imaging of iron organelles within the pigeon cochlea.
de Gille RW, McCoey JM, Hall LT, Tetienne JP, Malkemper EP, Keays DA, Hollenberg LCL, Simpson DA. de Gille RW, et al. Among authors: keays da. Proc Natl Acad Sci U S A. 2021 Nov 23;118(47):e2112749118. doi: 10.1073/pnas.2112749118. Proc Natl Acad Sci U S A. 2021. PMID: 34782471 Free PMC article.
77 results