Literature DB >> 32791068

Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis.

Smita Jha1, Aleksandra Ivovic2, Heeseog Kang3, Françoise Meylan2, Eric P Hanson4, Casey Rimland5, Eileen Lange6, James Katz6, Alison McBride7, Andrew C Warner8, Elijah F Edmondson8, Edward W Cowen9, Joan C Marini3, Richard M Siegel10, Timothy Bhattacharyya11.   

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Year:  2020        PMID: 32791068      PMCID: PMC7876163          DOI: 10.1016/j.jid.2020.06.036

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


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  4 in total

1.  Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.

Authors:  Javier A Couto; August Y Huang; Dennis J Konczyk; Jeremy A Goss; Steven J Fishman; John B Mulliken; Matthew L Warman; Arin K Greene
Journal:  Am J Hum Genet       Date:  2017-02-09       Impact factor: 11.025

2.  Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.

Authors:  Smita Jha; Nadja Fratzl-Zelman; Paul Roschger; Georgios Z Papadakis; Edward W Cowen; Heeseog Kang; Tanya J Lehky; Katharine Alter; Zuoming Deng; Aleksandra Ivovic; Lauren Flynn; James C Reynolds; Abhijit Dasgupta; Markku Miettinen; Eileen Lange; James Katz; Klaus Klaushofer; Joan C Marini; Richard M Siegel; Timothy Bhattacharyya
Journal:  J Bone Miner Res       Date:  2018-09-14       Impact factor: 6.741

3.  Melorheostosis: a review of 23 cases.

Authors:  J Freyschmidt
Journal:  Eur Radiol       Date:  2001       Impact factor: 5.315

4.  Somatic activating mutations in MAP2K1 cause melorheostosis.

Authors:  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
Journal:  Nat Commun       Date:  2018-04-11       Impact factor: 14.919

  4 in total
  1 in total

1.  Fibroblasts from Patients with Melorheostosis Promote Angiogenesis in Healthy Endothelial Cells through Secreted Factors.

Authors:  Amelia C Hurley-Novatny; Jules D Allbritton-King; Smita Jha; Edward W Cowen; Robert A Colbert; Fatemeh Navid; Timothy Bhattacharyya
Journal:  J Invest Dermatol       Date:  2022-02-19       Impact factor: 7.590

  1 in total

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