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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: reversade b. Nucleic Acids Res. 2023 Aug 11;51(14):7269-7287. doi: 10.1093/nar/gkad523. Nucleic Acids Res. 2023. PMID: 37334829 Free PMC article.
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B. Nabavizadeh N, et al. Among authors: reversade b. EMBO Mol Med. 2023 Feb 8;15(2):e16478. doi: 10.15252/emmm.202216478. Epub 2023 Jan 18. EMBO Mol Med. 2023. PMID: 36652330 Free PMC article.
ELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice.
Ho L, van Dijk M, Chye STJ, Messerschmidt DM, Chng SC, Ong S, Yi LK, Boussata S, Goh GH, Afink GB, Lim CY, Dunn NR, Solter D, Knowles BB, Reversade B. Ho L, et al. Among authors: reversade b. Science. 2017 Aug 18;357(6352):707-713. doi: 10.1126/science.aam6607. Epub 2017 Jun 29. Science. 2017. PMID: 28663440
138 results