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Page 1
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, Xue S, Nguyen K, Reversade B, Déjardin J, Baudot A, Robin JD, Magdinier F. Laberthonnière C, et al. Among authors: robin jd. Nucleic Acids Res. 2023 Aug 11;51(14):7269-7287. doi: 10.1093/nar/gkad523. Nucleic Acids Res. 2023. PMID: 37334829 Free PMC article.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion C, Roche S, Laberthonnière C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard MC, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, Déjardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F. Dion C, et al. Among authors: robin jd. Nucleic Acids Res. 2019 Apr 8;47(6):2822-2839. doi: 10.1093/nar/gkz005. Nucleic Acids Res. 2019. PMID: 30698748 Free PMC article.
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Roche S, Dion C, Broucqsault N, Laberthonnière C, Gaillard MC, Robin JD, Lagarde A, Puppo F, Vovan C, Chaix C, Campana ES, Attarian S, Bartoli M, Bernard R, Nguyen K, Magdinier F. Roche S, et al. Among authors: robin jd. Neurol Genet. 2019 Nov 14;5(6):e372. doi: 10.1212/NXG.0000000000000372. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872053 Free PMC article.
Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells.
Mazaleyrat K, Badja C, Broucqsault N, Chevalier R, Laberthonnière C, Dion C, Baldasseroni L, El-Yazidi C, Thomas M, Bachelier R, Altié A, Nguyen K, Lévy N, Robin JD, Magdinier F. Mazaleyrat K, et al. Among authors: robin jd. Cells. 2020 Jun 23;9(6):1531. doi: 10.3390/cells9061531. Cells. 2020. PMID: 32585982 Free PMC article.
AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome.
Laberthonnière C, Novoa-Del-Toro EM, Chevalier R, Broucqsault N, Rao VV, Trani JP, Nguyen K, Xue S, Reversade B, Robin JD, Baudot A, Magdinier F. Laberthonnière C, et al. Among authors: robin jd. Biomedicines. 2021 Jun 29;9(7):751. doi: 10.3390/biomedicines9070751. Biomedicines. 2021. PMID: 34209568 Free PMC article.
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres.
Laberthonnière C, Novoa-Del-Toro EM, Delourme M, Chevalier R, Broucqsault N, Mazaleyrat K, Streichenberger N, Manel V, Bernard R, Salort Campana E, Attarian S, Nguyen K, Robin JD, Baudot A, Magdinier F. Laberthonnière C, et al. Among authors: robin jd. J Cachexia Sarcopenia Muscle. 2022 Feb;13(1):621-635. doi: 10.1002/jcsm.12835. Epub 2021 Dec 3. J Cachexia Sarcopenia Muscle. 2022. PMID: 34859613 Free PMC article.
29 results