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Updated: Dec 24, 2025
Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
Published on: June 7, 2019
Hide and seek: Somatic SMAD3 mutations in melorheostosis
Joe Davis Velchev1, Aline Verstraeten1, Bart Loeys1,2
1Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium.
Abstract:
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) β signaling. These findings provide further insights into the genetic etiology of melorheostosis and consolidate the importance of the TGFβ pathway in skeletal disorders.
