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Hide and seek: Somatic SMAD3 mutations in melorheostosis

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اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • بيانات النشر:
      Rockefeller University Press, 2020.
    • الموضوع:
      2020
    • نبذة مختصرة :
      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.
    • ISSN:
      1540-9538
      0022-1007
    • الرقم المعرف:
      10.1084/jem.20200185
    • Rights:
      CC BY NC SA
      CC BY ND SA
      URL: http://creativecommons.org/licenses/by-nc-sa/4.0/http://www.rupress.org/terms/This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms/). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 International license, as described at http://creativecommons.org/licenses/by-nc-sa/4.0/).
    • الرقم المعرف:
      edsair.doi.dedup.....66384369f9d2ea0535b152cd0cd0c3fb