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Title
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Hide and seek: Somatic SMAD3 mutations in melorheostosis
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Author
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Abstract
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| 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) beta signaling. These findings provide further insights into the genetic etiology of melorheostosis and consolidate the importance of the TGF beta pathway in skeletal disorders. |
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Language
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English
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Source (journal)
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The journal of experimental medicine. - New York
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Publication
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New york
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Rockefeller univ press
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2020
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ISSN
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0022-1007
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DOI
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10.1084/JEM.20200185
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Volume/pages
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217
:5
(2020)
, p. 1-3
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Article Reference
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e20200185
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ISI
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000531028800019
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Pubmed ID
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32289153
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Medium
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E-only publicatie
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Full text (Publisher's DOI)
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Full text (open access)
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