< Terug naar vorige pagina
Publicatie
Hide and seek: Somatic SMAD3 mutations in melorheostosis
Tijdschriftbijdrage - Tijdschrift Editorial
In the current issue of JEM, Kang et al. (https://doi.org/10.1084/jem.20191499) describe somatic mutations in the SMAD3 gene causing endosteal melorheostosis. Using osteoblast models, the identified mutations are demonstrated to exert a gain-of-function mechanism, augmenting transforming growth factor (TGF) beta signaling. These findings provide further insights into the genetic etiology of melorheostosis and consolidate the importance of the TGF beta pathway in skeletal disorders.
Tijdschrift: The journal of experimental medicine
ISSN: 0022-1007
Volume: 217
Pagina's: 1 - 3
Jaar van publicatie:2020
Trefwoorden:Editorial
Toegankelijkheid:Open