Somatic activating mutations in MAP2K1 cause melorheostosis

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
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Science
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Acceso en línea:https://doaj.org/article/09b0dd3aa7ac4ad59c6710da313a7a43
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Sumario: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.

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