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Article

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.

The Journal of experimental medicine - 4 May 2020

Kang Heeseog, Jha Smita, Ivovic Aleksandra, Fratzl-Zelman Nadja, Deng Zuoming, Mitra Apratim, Cabral Wayne A, Hanson Eric P, Lange Eileen, Cowen Edward W, Katz James, Roschger Paul, Klaushofer Klaus, Dale Ryan K, Siegel Richard M, Bhattacharyya Timothy, Marini Joan C

Abstract excerpt

Melorheostosis is a rare sclerosing dysostosis characterized by asymmetric exuberant bone formation. Recently, we reported that somatic mosaicism for MAP2K1-activating mutations causes radiographical "dripping candle wax" melorheostosis. We now report somatic SMAD3 mutations in bone lesions of four unrelated patients with endosteal pattern melorheostosis. In vitro, the SMAD3 mutations stimulated the TGF-β pathway...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32232430
DOI: 10.1084/jem.20191499
PMCID: PMC7201932

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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