DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose

SMCHD1 mutations cause congenital arhinia (absent nose) and a muscular dystrophy called FSHD2. In FSHD2, loss of SMCHD1 repressive activity causes expression of double homeobox 4 (DUX4) in muscle tissue, where it is toxic. Studies of arhinia patients suggest a primary defect in nasal placode cells (...

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Detalles Bibliográficos
Autores principales: Inoue, Kaoru, Bostan, Hamed, Browne, MaKenna R., Bevis, Owen F., Bortner, Carl D., Moore, Steven A., Stence, Aaron A., Martin, Negin P., Chen, Shih-Heng, Burkholder, Adam B., Li, Jian-Liang, Shaw, Natalie D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2023
Materias:
Biomedicine and Life Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9937577/
https://www.ncbi.nlm.nih.gov/pubmed/36800423
http://dx.doi.org/10.1126/sciadv.abq7744

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