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Year Number of Results
2002 7
2003 10
2004 3
2005 7
2006 9
2007 9
2008 6
2009 6
2010 5
2011 8
2012 14
2013 15
2014 14
2015 20
2016 18
2017 15
2018 23
2019 36
2020 38
2021 38
2022 44
2023 43
2024 38
2025 56
2026 5

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432 results

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Page 1
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: wang h. 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.
Short bouts of accumulated exercise: Review and consensus statement on definition, efficacy, feasibility, practical applications, and future directions.
Yin M, Li Y, Aziz AR, Buffey A, Bishop DJ, Bao D, Nassis GP, Islam H, Wang H, Fyfe JJ, Xu J, Liu J, Zhao J, Cao J, Little JP, Qiu J, Diaz KM, Wang L, Zou L, Western MJ, Toledo ML, Hu M, Quan M, Owen N, Vollaard NBJ, Girard O, Shi Q, Metcalfe RS, Ramirez-Campillo R, Wang R, Wongpipit W, Zhu W, Zhu W, Xu W, Wang X, Chen X, Wang X, Wen X, Liu Y, Gao Y, Fu Y, Kong Z, Cao Z, Wang Z, Chen P, Mao L. Yin M, et al. Among authors: wang h. J Sport Health Sci. 2025 Sep 18:101088. doi: 10.1016/j.jshs.2025.101088. Online ahead of print. J Sport Health Sci. 2025. PMID: 40972791 Free article.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Among authors: wang h. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, Liu L, Stoffels M, Kratina T, Lawlor KE, Zaal KJM, Hoffmann PM, Etemadi N, Shield-Artin K, Biben C, Tsai WL, Blake MD, Kuehn HS, Yang D, Anderton H, Silke N, Wachsmuth L, Zheng L, Moura NS, Beck DB, Gutierrez-Cruz G, Ombrello AK, Pinto-Patarroyo GP, Kueh AJ, Herold MJ, Hall C, Wang H, Chae JJ, Dmitrieva NI, McKenzie M, Light A, Barham BK, Jones A, Romeo TM, Zhou Q, Aksentijevich I, Mullikin JC, Gross AJ, Shum AK, Hawkins ED, Masters SL, Lenardo MJ, Boehm M, Rosenzweig SD, Pasparakis M, Voss AK, Gadina M, Kastner DL, Silke J. Lalaoui N, et al. Among authors: wang h. Nature. 2020 Jan;577(7788):103-108. doi: 10.1038/s41586-019-1828-5. Epub 2019 Dec 11. Nature. 2020. PMID: 31827281 Free PMC article.
OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Caballero-Oteyza A, Crisponi L, Peng XP, Wang H, Mrovecova P, Olla S, Siguri C, Marnissi F, Jouhadi Z, Aksentijevich I, Grimbacher B, Proietti M. Caballero-Oteyza A, et al. Among authors: wang h. Clin Immunol. 2024 Aug;265:110292. doi: 10.1016/j.clim.2024.110292. Epub 2024 Jun 22. Clin Immunol. 2024. PMID: 38914362 Free article. Review.
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Liu F, Liang C, Li Z, Zhao S, Yuan H, Yao R, Qin Z, Shangguan S, Zhang S, Zou LP, Chen Q, Gao Z, Wen S, Peng J, Yin F, Chen F, Qiu X, Luo J, Xie Y, Lu D, Zhang Y, Xie H, Li G, Zhang TJ, Luan P, Wang H, Cui X, Huang H, Liu R, Sun X, Chen C, Wu N, Wang J, Liu C, Shen Y, Gusella JF, Chen X. Liu F, et al. Among authors: wang h. Brain. 2023 Aug 1;146(8):3347-3363. doi: 10.1093/brain/awad071. Brain. 2023. PMID: 36869767
LILRB4 on multiple myeloma cells promotes bone lesion by p-SHP2/NF-κB/RELT signal pathway.
Wang H, Wang L, Luan H, Xiao J, Zhao Z, Yu P, Deng M, Liu Y, Ji S, Ma J, Zhou Y, Zhang J, Meng X, Zhang J, Zhao X, Li C, Li F, Wang D, Wei S, Hui L, Nie S, Jin C, An Z, Zhang N, Wang Y, Zhang CC, Li Z. Wang H, et al. J Exp Clin Cancer Res. 2024 Jul 1;43(1):183. doi: 10.1186/s13046-024-03110-y. J Exp Clin Cancer Res. 2024. PMID: 38951916 Free PMC article.
432 results