Hide and seek: Somatic SMAD3 mutations in melorheostosis

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 fact...

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Detalles Bibliográficos
Autores principales: Velchev, Joe Davis, Verstraeten, Aline, Loeys, Bart
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2020
Materias:
Insights
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201934/
https://www.ncbi.nlm.nih.gov/pubmed/32289153
http://dx.doi.org/10.1084/jem.20200185
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author Velchev, Joe Davis
Verstraeten, Aline
Loeys, Bart
author_facet Velchev, Joe Davis
Verstraeten, Aline
Loeys, Bart
author_sort Velchev, Joe Davis
collection PubMed
description 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.
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spelling pubmed-72019342020-11-04 Hide and seek: Somatic SMAD3 mutations in melorheostosis Velchev, Joe Davis Verstraeten, Aline Loeys, Bart J Exp Med Insights 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. Rockefeller University Press 2020-04-14 /pmc/articles/PMC7201934/ /pubmed/32289153 http://dx.doi.org/10.1084/jem.20200185 Text en © 2020 Velchev et al. http://www.rupress.org/terms/https://creativecommons.org/licenses/by-nc-sa/4.0/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 https://creativecommons.org/licenses/by-nc-sa/4.0/).
spellingShingle Insights
Velchev, Joe Davis
Verstraeten, Aline
Loeys, Bart
Hide and seek: Somatic SMAD3 mutations in melorheostosis
title Hide and seek: Somatic SMAD3 mutations in melorheostosis
title_full Hide and seek: Somatic SMAD3 mutations in melorheostosis
title_fullStr Hide and seek: Somatic SMAD3 mutations in melorheostosis
title_full_unstemmed Hide and seek: Somatic SMAD3 mutations in melorheostosis
title_short Hide and seek: Somatic SMAD3 mutations in melorheostosis
title_sort hide and seek: somatic smad3 mutations in melorheostosis
topic Insights
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201934/
https://www.ncbi.nlm.nih.gov/pubmed/32289153
http://dx.doi.org/10.1084/jem.20200185
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