SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis

Loss-of-function mutations in SMAD3 cause Loeys-Dietz syndrome type 3 (LDS3), a rare autosomal-dominant connective tissue disorder characterized by vascular pathology and skeletal abnormalities. Dysregulation of TGF-β/SMAD signaling is associated with abnormal skeletal features and bone fragility. T...

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Detalles Bibliográficos
Autores principales: El-Gazzar, Ahmed, Kang, Heeseog, Fratzl-Zelman, Nadja, Webb, Emma, Barnes, Aileen M., Jovanovic, Milena, Mehta, Sarju G., Datta, Vipan, Saraff, Vrinda, Dale, Ryan K., Rauch, Frank, Marini, Joan C., Högler, Wolfgang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Full Length Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9301510/
https://www.ncbi.nlm.nih.gov/pubmed/35874167
http://dx.doi.org/10.1016/j.bonr.2022.101603

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