Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway

Melorheostosis is a rare sclerosing dysostosis characterized by asymmetric exuberant bone formation. Recently, we reported that somatic mosaicism for MAP2K1-activating mutations causes radiographical “dripping candle wax” melorheostosis. We now report somatic SMAD3 mutations in bone lesions of four...

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Bibliografske podrobnosti
izdano v:J Exp Med
Main Authors: Kang, Heeseog, Jha, Smita, Ivovic, Aleksandra, Fratzl-Zelman, Nadja, Deng, Zuoming, Mitra, Apratim, Cabral, Wayne A., Hanson, Eric P., Lange, Eileen, Cowen, Edward W., Katz, James, Roschger, Paul, Klaushofer, Klaus, Dale, Ryan K., Siegel, Richard M., Bhattacharyya, Timothy, Marini, Joan C.
Format: Artigo
Jezik:Inglês
Izdano: Rockefeller University Press 2020
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7201932/
https://ncbi.nlm.nih.gov/pubmed/32232430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20191499
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