In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype

Many genetic syndromes are linked to mutations in genes encoding factors that guide chromatin organization. Among them, several distinct rare genetic diseases are linked to mutations in SMCHD1 that encodes the structural maintenance of chromosomes flexible hinge domain containing 1 chromatin-associa...

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Detalles Bibliográficos
Autores principales: Laberthonnière, Camille, Delourme, Mégane, Chevalier, Raphaël, Dion, Camille, Ganne, Benjamin, Hirst, David, Caron, Leslie, Perrin, Pierre, Adélaïde, José, Chaffanet, Max, Xue, Shifeng, Nguyen, Karine, Reversade, Bruno, Déjardin, Jérôme, Baudot, Anaïs, Robin, Jérôme D, Magdinier, Frédérique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Gene regulation, Chromatin and Epigenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415154/
https://www.ncbi.nlm.nih.gov/pubmed/37334829
http://dx.doi.org/10.1093/nar/gkad523

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415154/
https://www.ncbi.nlm.nih.gov/pubmed/37334829
http://dx.doi.org/10.1093/nar/gkad523

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