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Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne.
Lee W, Stone DL, Hoffmann P, Rosenzweig S, Tsai WL, Gadina M, Romeo T, Lee CR, Randazzo D, Pimpale Chavan P, Manthiram K, Canna S, Park YH, Ombrello AK, Aksentijevich I, Kastner DL, Chae JJ. Lee W, et al. Among authors: chae jj. Ann Rheum Dis. 2024 May 15;83(6):787-798. doi: 10.1136/ard-2023-225085. Ann Rheum Dis. 2024. PMID: 38408849 Free PMC article.
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I. Giannelou A, et al. Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22. Ann Rheum Dis. 2018. PMID: 29358286 Free PMC article.
Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts.
Balow JE Jr, Ryan JG, Chae JJ, Booty MG, Bulua A, Stone D, Sun HW, Greene J, Barham B, Goldbach-Mansky R, Kastner DL, Aksentijevich I. Balow JE Jr, et al. Among authors: chae jj. Ann Rheum Dis. 2013 Jun;72(6):1064-70. doi: 10.1136/annrheumdis-2012-202082. Epub 2012 Dec 5. Ann Rheum Dis. 2013. PMID: 23223423 Free PMC article.
Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
Stone DL, Ombrello A, Arostegui JI, Schneider C, Dang V, de Jesus A, Girard-Guyonvarc'h C, Gabay C, Lee W, Chae JJ, Aksentijevich I, Goldbach-Mansky RT, Kastner DL, Canna SW. Stone DL, et al. Among authors: chae jj. Arthritis Rheumatol. 2022 Feb;74(2):353-357. doi: 10.1002/art.41976. Epub 2022 Jan 3. Arthritis Rheumatol. 2022. PMID: 34492165 Free PMC article.
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.
Park YH, Remmers EF, Lee W, Ombrello AK, Chung LK, Shilei Z, Stone DL, Ivanov MI, Loeven NA, Barron KS, Hoffmann P, Nehrebecky M, Akkaya-Ulum YZ, Sag E, Balci-Peynircioglu B, Aksentijevich I, Gül A, Rotimi CN, Chen H, Bliska JB, Ozen S, Kastner DL, Shriner D, Chae JJ. Park YH, et al. Among authors: chae jj. Nat Immunol. 2020 Aug;21(8):857-867. doi: 10.1038/s41590-020-0705-6. Epub 2020 Jun 29. Nat Immunol. 2020. PMID: 32601469 Free PMC article.
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. Among authors: chae j. 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.
88 results