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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. Among authors: siegel r. Rheumatology (Oxford). 2021 Dec 24;61(1):163-173. doi: 10.1093/rheumatology/keab270. Rheumatology (Oxford). 2021. PMID: 33744914 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. 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.
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.
Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, Hanson EP, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, Jones A, Barham BK, Leavis HL, van Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, Kastner DL, Aksentijevich I. Zhou Q, et al. Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642243 Free PMC article.
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. Nat Commun. 2018 Apr 11;9(1):1390. doi: 10.1038/s41467-018-03720-z. Nat Commun. 2018. PMID: 29643386 Free PMC article.
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. 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.
Prevalence and pathogenicity of autoantibodies in patients with idiopathic CD4 lymphopenia.
Perez-Diez A, Wong CS, Liu X, Mystakelis H, Song J, Lu Y, Sheikh V, Bourgeois JS, Lisco A, Laidlaw E, Cudrici C, Zhu C, Li QZ, Freeman AF, Williamson PR, Anderson M, Roby G, Tsang JS, Siegel R, Sereti I. Perez-Diez A, et al. Among authors: siegel r. J Clin Invest. 2020 Oct 1;130(10):5326-5337. doi: 10.1172/JCI136254. J Clin Invest. 2020. PMID: 32634122 Free PMC article.
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. 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.
1,917 results