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Page 1
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Flex E, Albadri S, Radio FC, Cecchetti S, Lauri A, Priolo M, Kissopoulos M, Carpentieri G, Fasano G, Venditti M, Magliocca V, Bellacchio E, Welch CL, Colombo PC, Kochav SM, Chang R, Barrick R, Trivisano M, Micalizzi A, Borghi R, Messina E, Mancini C, Pizzi S, De Santis F, Rosello M, Specchio N, Compagnucci C, McWalter K, Chung WK, Del Bene F, Tartaglia M. Flex E, et al. Among authors: rosello m. Hum Mol Genet. 2023 Jan 13;32(3):473-488. doi: 10.1093/hmg/ddac213. Hum Mol Genet. 2023. PMID: 36018820 Free PMC article.
Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.
Antoniou P, Hardouin G, Martinucci P, Frati G, Felix T, Chalumeau A, Fontana L, Martin J, Masson C, Brusson M, Maule G, Rosello M, Giovannangeli C, Abramowski V, de Villartay JP, Concordet JP, Del Bene F, El Nemer W, Amendola M, Cavazzana M, Cereseto A, Romano O, Miccio A. Antoniou P, et al. Among authors: rosello m. Nat Commun. 2022 Nov 4;13(1):6618. doi: 10.1038/s41467-022-34493-1. Nat Commun. 2022. PMID: 36333351 Free PMC article.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: rosello m. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
Riva M, Ferreira S, Hayashi K, Saillour Y, Medvedeva VP, Honda T, Hayashi K, Altersitz C, Albadri S, Rosello M, Dang J, Serafini M, Causeret F, Henry OJ, Roux CJ, Bellesme C, Freri E, Josifova D, Parrini E, Guerrini R, Del Bene F, Nakajima K, Bahi-Buisson N, Pierani A. Riva M, et al. Among authors: rosello m. J Clin Invest. 2024 Jul 9;134(16):e153097. doi: 10.1172/JCI153097. J Clin Invest. 2024. PMID: 38980724 Free PMC article.
Myosin 1b regulates intestinal epithelial morphogenesis via interaction with UNC45A.
Revenu C, Lebreton C, Cannata Serio M, Rosello M, Duclaux-Loras R, Duroure K, Nicolle O, Eggeler F, Prospéri MT, Stoufflet J, Vougny J, Lépine P, Michaux G, Cerf-Bensussan N, Coudrier E, Perez F, Parlato M, Del Bene F. Revenu C, et al. Among authors: rosello m. Cell Rep. 2024 Dec 3;43(12):114941. doi: 10.1016/j.celrep.2024.114941. Online ahead of print. Cell Rep. 2024. PMID: 39636728 Free article.
138 results