| 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 | 586 | 2016 |
| Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity EP Hanson, L Monaco-Shawver, LA Solt, LA Madge, PP Banerjee, ... Journal of Allergy and Clinical Immunology 122 (6), 1169-1177. e16, 2008 | 251 | 2008 |
| Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome D Kotlarz, N Ziętara, G Uzel, T Weidemann, CJ Braun, J Diestelhorst, ... Journal of Experimental Medicine 210 (3), 433-443, 2013 | 238 | 2013 |
| Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases AA de Jesus, Y Hou, S Brooks, L Malle, A Biancotto, Y Huang, KR Calvo, ... The Journal of clinical investigation 130 (4), 1669-1682, 2020 | 200 | 2020 |
| The amino terminus of JAK3 is necessary and sufficient for binding to the common γ chain and confers the ability to transmit interleukin 2-mediated signals M Chen, A Cheng, YQ Chen, A Hymel, EP Hanson, L Kimmel, Y Minami, ... Proceedings of the National Academy of Sciences 94 (13), 6910-6915, 1997 | 195 | 1997 |
| Interleukins 2, 4, 7, and 15 stimulate tyrosine phosphorylation of insulin receptor substrates 1 and 2 in T Cells potential role of jak kinases JA Johnston, LM Wang, EP Hanson, XJ Sun, MF White, SA Oakes, ... Journal of Biological Chemistry 270 (48), 28527-28530, 1995 | 190 | 1995 |
| Distinct tyrosine phosphorylation sites in JAK3 kinase domain positively and negatively regulate its enzymatic activity YJ Zhou, EP Hanson, YQ Chen, K Magnuson, M Chen, PG Swann, ... Proceedings of the National Academy of Sciences 94 (25), 13850-13855, 1997 | 165 | 1997 |
| Autosomal SCID caused by a point mutation in the N‐terminus of Jak3: mapping of the Jak3–receptor interaction domain NA Cacalano, TS Migone, F Bazan, EP Hanson, M Chen, F Candotti, ... The EMBO journal, 1999 | 153 | 1999 |
| The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I … KC Gedik, L Lamot, M Romano, E Demirkaya, D Piskin, S Torreggiani, ... Annals of the Rheumatic Diseases 81 (5), 601-613, 2022 | 85 | 2022 |
| Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease J Zilberman-Rudenko, LM Shawver, AW Wessel, Y Luo, M Pelletier, ... Proceedings of the National Academy of Sciences 113 (6), 1612-1617, 2016 | 80 | 2016 |
| Somatic activating mutations in MAP2K1 cause melorheostosis H Kang, S Jha, Z Deng, N Fratzl-Zelman, WA Cabral, A Ivovic, F Meylan, ... Nature communications 9 (1), 1390, 2018 | 73 | 2018 |
| IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function BH Salt, JE Niemela, R Pandey, EP Hanson, RP Deering, R Quinones, ... Journal of allergy and clinical immunology 121 (4), 976-982, 2008 | 56 | 2008 |
| Epithelial phenotype restoring drugs suppress macular degeneration phenotypes in an iPSC model R Sharma, A George, M Nimmagadda, D Ortolan, BS Karla, Z Qureshy, ... Nature Communications 12 (1), 7293, 2021 | 44 | 2021 |
| Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway H Kang, S Jha, A Ivovic, N Fratzl-Zelman, Z Deng, A Mitra, WA Cabral, ... Journal of Experimental Medicine 217 (5), 2020 | 39 | 2020 |
| Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations MD Keller, M Petersen, P Ong, J Church, K Risma, J Burnham, A Jain, ... Frontiers in immunology 2, 16178, 2011 | 39 | 2011 |
| Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome NL Rider, B Boisson, S Jyonouchi, EP Hanson, SD Rosenzweig, ... Frontiers in pediatrics 3, 2, 2015 | 37 | 2015 |
| Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype Y Lee, AW Wessel, J Xu, JG Reinke, E Lee, SM Kim, AP Hsu, ... The Journal of clinical investigation 132 (6), 2022 | 33 | 2022 |
| Germline gain-of-function myeloid differentiation primary response gene–88 (MYD88) mutation in a child with severe arthritis KA Sikora, JR Bennett, L Vyncke, Z Deng, WL Tsai, E Pauwels, ... Journal of Allergy and Clinical Immunology 141 (5), 1943-1947. e9, 2018 | 20 | 2018 |
| Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels G Karamchandani-Patel, EP Hanson, R Saltzman, CE Kimball, ... Annals of Allergy, Asthma & Immunology 107 (1), 50-56, 2011 | 19 | 2011 |
| A method for the quantitative analysis of stimulation-induced nuclear translocation of the p65 subunit of NF-κB from patient-derived dermal fibroblasts AW Wessel, EP Hanson NF-kappa B: Methods and Protocols, 413-426, 2015 | 15 | 2015 |
Richard SiegelNovartis Institutes of BioMedical ResearchVerified email at novartis.com
