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Somatic activating mutations in MAP2K1 cause melorheostosis.
Kang H, Jha S, Deng Z, Fratzl-Zelman N, Cabral WA, Ivovic A, Meylan F, Hanson EP, Lange E, Katz J, Roschger P, Klaushofer K, Cowen EW, Siegel RM, Marini JC, Bhattacharyya T. Kang H, et al. Among authors: cowen ew. Nat Commun. 2018 Apr 11;9(1):1390. doi: 10.1038/s41467-018-03720-z. Nat Commun. 2018. PMID: 29643386 Free PMC article.
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.
Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R. Sanchez GAM, et al. Among authors: cowen ew. J Clin Invest. 2018 Jul 2;128(7):3041-3052. doi: 10.1172/JCI98814. Epub 2018 Jun 11. J Clin Invest. 2018. PMID: 29649002 Free PMC article.
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.
Jha S, Fratzl-Zelman N, Roschger P, Papadakis GZ, Cowen EW, Kang H, Lehky TJ, Alter K, Deng Z, Ivovic A, Flynn L, Reynolds JC, Dasgupta A, Miettinen M, Lange E, Katz J, Klaushofer K, Marini JC, Siegel RM, Bhattacharyya T. Jha S, et al. Among authors: cowen ew. J Bone Miner Res. 2019 Jan;34(1):145-156. doi: 10.1002/jbmr.3577. Epub 2018 Sep 14. J Bone Miner Res. 2019. PMID: 30138550 Free PMC article. Clinical Trial.
Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis.
Jha S, Ivovic A, Kang H, Meylan F, Hanson EP, Rimland C, Lange E, Katz J, McBride A, Warner AC, Edmondson EF, Cowen EW, Marini JC, Siegel RM, Bhattacharyya T. Jha S, et al. Among authors: cowen ew. J Invest Dermatol. 2021 Mar;141(3):688-692.e11. doi: 10.1016/j.jid.2020.06.036. Epub 2020 Aug 11. J Invest Dermatol. 2021. PMID: 32791068 Free PMC article. No abstract available.
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, Collins MT, Choate KA. Lim YH, et al. Among authors: cowen ew. Hum Mol Genet. 2014 Jan 15;23(2):397-407. doi: 10.1093/hmg/ddt429. Epub 2013 Sep 4. Hum Mol Genet. 2014. PMID: 24006476 Free PMC article.
195 results