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Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.
Banal C, Quelennec E, Bertani-Torres W, Gacem N, Amiel J, Marlin S, Petit F, Pingault V, Lefort N, Bondurand N. Banal C, et al. Among authors: lefort n. Stem Cell Res. 2020 Oct;48:101936. doi: 10.1016/j.scr.2020.101936. Epub 2020 Aug 2. Stem Cell Res. 2020. PMID: 32795927 Free article.
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Ucuncu E, Rajamani K, Wilson MSC, Medina-Cano D, Altin N, David P, Barcia G, Lefort N, Banal C, Vasilache-Dangles MT, Pitelet G, Lorino E, Rabasse N, Bieth E, Zaki MS, Topcu M, Sonmez FM, Musaev D, Stanley V, Bole-Feysot C, Nitschké P, Munnich A, Bahi-Buisson N, Fossoud C, Giuliano F, Colleaux L, Burglen L, Gleeson JG, Boddaert N, Saiardi A, Cantagrel V. Ucuncu E, et al. Among authors: lefort n. Nat Commun. 2020 Nov 30;11(1):6087. doi: 10.1038/s41467-020-19919-y. Nat Commun. 2020. PMID: 33257696 Free PMC article.
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M. Duclaux-Loras R, et al. Among authors: lefort n. J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997. J Clin Invest. 2022. PMID: 35575086 Free PMC article.
Engineering 3D micro-compartments for highly efficient and scale-independent expansion of human pluripotent stem cells in bioreactors.
Cohen PJR, Luquet E, Pletenka J, Leonard A, Warter E, Gurchenkov B, Carrere J, Rieu C, Hardouin J, Moncaubeig F, Lanero M, Quelennec E, Wurtz H, Jamet E, Demarco M, Banal C, Van Liedekerke P, Nassoy P, Feyeux M, Lefort N, Alessandri K. Cohen PJR, et al. Among authors: lefort n. Biomaterials. 2023 Apr;295:122033. doi: 10.1016/j.biomaterials.2023.122033. Epub 2023 Feb 2. Biomaterials. 2023. PMID: 36764194 Free article.
52 results