Somatic activating mutations in MAP2K1 cause melorheostosis

Melorheostosis is characterized by bone overgrowth and associated with pain and functional impairment. Here, the authors use whole exome sequencing to identify somatic mutations in MAP2K1 in affected bone of melorheostosis patients which is associated with increased proliferation but delayed differe...

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Autores principales:	Heeseog Kang, Smita Jha, Zuoming Deng, Nadja Fratzl-Zelman, Wayne A. Cabral, Aleksandra Ivovic, Françoise Meylan, Eric P. Hanson, Eileen Lange, James Katz, Paul Roschger, Klaus Klaushofer, Edward W. Cowen, Richard M. Siegel, Joan C. Marini, Timothy Bhattacharyya
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/09b0dd3aa7ac4ad59c6710da313a7a43
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spelling	oai:doaj.org-article:09b0dd3aa7ac4ad59c6710da313a7a432021-12-02T16:50:08ZSomatic activating mutations in MAP2K1 cause melorheostosis10.1038/s41467-018-03720-z2041-1723https://doaj.org/article/09b0dd3aa7ac4ad59c6710da313a7a432018-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-03720-zhttps://doaj.org/toc/2041-1723Melorheostosis is characterized by bone overgrowth and associated with pain and functional impairment. Here, the authors use whole exome sequencing to identify somatic mutations in MAP2K1 in affected bone of melorheostosis patients which is associated with increased proliferation but delayed differentiation of cultured osteoblasts.Heeseog KangSmita JhaZuoming DengNadja Fratzl-ZelmanWayne A. CabralAleksandra IvovicFrançoise MeylanEric P. HansonEileen LangeJames KatzPaul RoschgerKlaus KlaushoferEdward W. CowenRichard M. SiegelJoan C. MariniTimothy BhattacharyyaNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Heeseog Kang Smita Jha Zuoming Deng Nadja Fratzl-Zelman Wayne A. Cabral Aleksandra Ivovic Françoise Meylan Eric P. Hanson Eileen Lange James Katz Paul Roschger Klaus Klaushofer Edward W. Cowen Richard M. Siegel Joan C. Marini Timothy Bhattacharyya Somatic activating mutations in MAP2K1 cause melorheostosis
description	Melorheostosis is characterized by bone overgrowth and associated with pain and functional impairment. Here, the authors use whole exome sequencing to identify somatic mutations in MAP2K1 in affected bone of melorheostosis patients which is associated with increased proliferation but delayed differentiation of cultured osteoblasts.
format	article
author	Heeseog Kang Smita Jha Zuoming Deng Nadja Fratzl-Zelman Wayne A. Cabral Aleksandra Ivovic Françoise Meylan Eric P. Hanson Eileen Lange James Katz Paul Roschger Klaus Klaushofer Edward W. Cowen Richard M. Siegel Joan C. Marini Timothy Bhattacharyya
author_facet	Heeseog Kang Smita Jha Zuoming Deng Nadja Fratzl-Zelman Wayne A. Cabral Aleksandra Ivovic Françoise Meylan Eric P. Hanson Eileen Lange James Katz Paul Roschger Klaus Klaushofer Edward W. Cowen Richard M. Siegel Joan C. Marini Timothy Bhattacharyya
author_sort	Heeseog Kang
title	Somatic activating mutations in MAP2K1 cause melorheostosis
title_short	Somatic activating mutations in MAP2K1 cause melorheostosis
title_full	Somatic activating mutations in MAP2K1 cause melorheostosis
title_fullStr	Somatic activating mutations in MAP2K1 cause melorheostosis
title_full_unstemmed	Somatic activating mutations in MAP2K1 cause melorheostosis
title_sort	somatic activating mutations in map2k1 cause melorheostosis
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/09b0dd3aa7ac4ad59c6710da313a7a43
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Somatic activating mutations in MAP2K1 cause melorheostosis

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