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Page 1
Germline gain-of-function myeloid differentiation primary response gene-88 (MYD88) mutation in a child with severe arthritis.
Sikora KA, Bennett JR, Vyncke L, Deng Z, Tsai WL, Pauwels E, Layh-Schmitt G, Brundidge A, Navid F, Zaal KJM, Hanson E, Gadina M, Staudt LM, Griffin TA, Tavernier J, Peelman F, Colbert RA. Sikora KA, et al. Among authors: deng z. J Allergy Clin Immunol. 2018 May;141(5):1943-1947.e9. doi: 10.1016/j.jaci.2018.01.027. Epub 2018 Feb 7. J Allergy Clin Immunol. 2018. PMID: 29427642 Free PMC article. No abstract available.
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: deng z. 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: deng z. 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: deng z. 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.
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
Lee Y, Wessel AW, Xu J, Reinke JG, Lee E, Kim SM, Hsu AP, Zilberman-Rudenko J, Cao S, Enos C, Brooks SR, Deng Z, Lin B, de Jesus AA, Hupalo DN, Piotto DG, Terreri MT, Dimitriades VR, Dalgard CL, Holland SM, Goldbach-Mansky R, Siegel RM, Hanson EP. Lee Y, et al. Among authors: deng z. J Clin Invest. 2022 Mar 15;132(6):e128808. doi: 10.1172/JCI128808. J Clin Invest. 2022. PMID: 35289316 Free PMC article.
Anakinra for refractory pustular psoriasis: A phase II, open-label, dose-escalation trial.
Naik HB, Pichard DC, Schwartz DM, O'Brien M, Masciocchi M, Thompson J, Sen HN, Steinberg SM, Mitchell SA, de Jesus AA, McCalmont TH, Dey A, Rosenstein RK, Deng Z, Goldbach-Mansky R, Mehta NN, Cowen EW. Naik HB, et al. Among authors: deng z. J Am Acad Dermatol. 2022 Dec;87(6):1380-1383. doi: 10.1016/j.jaad.2022.07.065. Epub 2022 Sep 16. J Am Acad Dermatol. 2022. PMID: 36116584 Free PMC article. Clinical Trial. No abstract available.
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R. de Jesus AA, et al. Among authors: deng z. J Clin Invest. 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. J Clin Invest. 2020. PMID: 31874111 Free PMC article. Clinical Trial.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. Among authors: deng z. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
Inactivating Mutation in IRF8 Promotes Osteoclast Transcriptional Programs and Increases Susceptibility to Tooth Root Resorption.
Thumbigere-Math V, Foster BL, Bachu M, Yoshii H, Brooks SR, Coulter A, Chavez MB, Togi S, Neely AL, Deng Z, Mansky KC, Ozato K, Somerman MJ. Thumbigere-Math V, et al. Among authors: deng z. J Bone Miner Res. 2019 Jun;34(6):1155-1168. doi: 10.1002/jbmr.3690. Epub 2019 Mar 6. J Bone Miner Res. 2019. PMID: 30840779 Free PMC article.
8,810 results