Hide and seek: Somatic SMAD3 mutations in melorheostosis.

Abstract excerpt

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...

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• Mutation
• Osteoblasts
• Signal Transduction
• Smad3 Protein
• Transforming Growth Factor beta