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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: siegel rm. Nat Commun. 2018 Apr 11;9(1):1390. doi: 10.1038/s41467-018-03720-z. Nat Commun. 2018. PMID: 29643386 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: siegel rm. 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.
Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction.
Fratzl-Zelman N, Roschger P, Kang H, Jha S, Roschger A, Blouin S, Deng Z, Cabral WA, Ivovic A, Katz J, Siegel RM, Klaushofer K, Fratzl P, Bhattacharyya T, Marini JC. Fratzl-Zelman N, et al. Among authors: siegel rm. J Bone Miner Res. 2019 May;34(5):883-895. doi: 10.1002/jbmr.3656. Epub 2019 Jan 22. J Bone Miner Res. 2019. PMID: 30667555 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: siegel rm. 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.
Multifocal calcific periarthritis with distinctive clinical and radiological features in patients with CD73 deficiency.
Cudrici CD, Newman KA, Ferrante EA, Huffstutler R, Carney K, Betancourt B, Miettinen M, Siegel R, Katz JD, Nesti LJ, St Hilaire C, Lakshmipathy D, Wen H, Bagheri MH, Boehm M, Brofferio A. Cudrici CD, et al. Rheumatology (Oxford). 2021 Dec 24;61(1):163-173. doi: 10.1093/rheumatology/keab270. Rheumatology (Oxford). 2021. PMID: 33744914 Free PMC article.
Natural killer cell expression of Ki67 is associated with elevated serum IL-15, disease activity and nephritis in systemic lupus erythematosus.
Hudspeth K, Wang S, Wang J, Rahman S, Smith MA, Casey KA; Autoimmunity Molecular Team; Manna Z, Sanjuan M, Kolbeck R, Hasni S, Ettinger R, Siegel RM. Hudspeth K, et al. Among authors: siegel rm. Clin Exp Immunol. 2019 May;196(2):226-236. doi: 10.1111/cei.13263. Epub 2019 Mar 19. Clin Exp Immunol. 2019. PMID: 30693467 Free PMC article.
Safety and Tolerability of Omalizumab: A Randomized Clinical Trial of Humanized Anti-IgE Monoclonal Antibody in Systemic Lupus Erythematosus.
Hasni S, Gupta S, Davis M, Poncio E, Temesgen-Oyelakin Y, Joyal E, Fike A, Manna Z, Auh S, Shi Y, Chan D, Carlucci P, Biehl A, Dema B, Charles N, Balow JE, Waldman M, Siegel RM, Kaplan MJ, Rivera J. Hasni S, et al. Among authors: siegel rm. Arthritis Rheumatol. 2019 Jul;71(7):1135-1140. doi: 10.1002/art.40828. Epub 2019 May 8. Arthritis Rheumatol. 2019. PMID: 30597768 Free PMC article. Clinical Trial.
245 results