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| Early-onset stroke and vasculopathy associated with mutations in ADA2 Q Zhou, D Yang, AK Ombrello, AV Zavialov, C Toro, AV Zavialov, ... New England Journal of Medicine 370 (10), 911-920, 2014 | 787 | 2014 |
| The B30. 2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production JJ Chae, G Wood, SL Masters, K Richard, G Park, BJ Smith, DL Kastner Proceedings of the National Academy of Sciences 103 (26), 9982-9987, 2006 | 730 | 2006 |
| Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease DB Beck, MA Ferrada, KA Sikora, AK Ombrello, JC Collins, W Pei, ... New England Journal of Medicine 383 (27), 2628-2638, 2020 | 675 | 2020 |
| Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis JJ Chae, HD Komarow, J Cheng, G Wood, N Raben, PP Liu, DL Kastner Molecular cell 11 (3), 591-604, 2003 | 554 | 2003 |
| Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease Q Zhou, H Wang, DM Schwartz, M Stoffels, YH Park, Y Zhang, D Yang, ... Nature genetics 48 (1), 67-73, 2016 | 547 | 2016 |
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| Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice JJ Chae, YH Cho, GS Lee, J Cheng, PP Liu, L Feigenbaum, SI Katz, ... Immunity 34 (5), 755-768, 2011 | 500 | 2011 |
| Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the … I Aksentijevich, Y Torosyan, J Samuels, M Centola, E Pras, JJ Chae, ... The American Journal of Human Genetics 64 (4), 949-962, 1999 | 360 | 1999 |
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| The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments E Mansfield, JJ Chae, HD Komarow, TM Brotz, DM Frucht, I Aksentijevich, ... Blood, The Journal of the American Society of Hematology 98 (3), 851-859, 2001 | 306 | 2001 |
| Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy JJ Chae, I Aksentijevich, DL Kastner British journal of haematology 146 (5), 467-478, 2009 | 297 | 2009 |
| The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations KM Hull, N Shoham, JJ Chae, I Aksentijevich, DL Kastner Current opinion in rheumatology 15 (1), 61-69, 2003 | 295 | 2003 |
| Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production A Brehm, Y Liu, A Sheikh, B Marrero, E Omoyinmi, Q Zhou, ... The Journal of clinical investigation 125 (11), 4196-4211, 2015 | 290 | 2015 |
| The pyrin inflammasome in health and disease O Schnappauf, JJ Chae, DL Kastner, I Aksentijevich Frontiers in immunology 10, 465008, 2019 | 289 | 2019 |
| Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease Q Zhou, X Yu, E Demirkaya, N Deuitch, D Stone, WL Tsai, HS Kuehn, ... Proceedings of the National Academy of Sciences 113 (36), 10127-10132, 2016 | 228 | 2016 |
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| Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome A Simon, H Park, R Maddipati, AA Lobito, AC Bulua, AJ Jackson, JJ Chae, ... Proceedings of the National Academy of Sciences 107 (21), 9801-9806, 2010 | 218 | 2010 |
