Panfeng Tao, Jinqiao Sun, Zheming Wu, Shihao Wang, Jun Wang, Wanjin Li,..., Xiaomin Yu#, Xiaochuan Wang#, Junying Yuan#, Qing Zhou#. A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature 2020 Jan;577(7788):109-114.
Yusha Wang, Jun Wang, Wenjie Zheng, Jiahui Zhang, Jinbo Wang, Taijie Jin, Panfeng Tao, Yibo Wang, Chenlu Liu, Jiqian Huang, Pui Y. Lee, Xiaomin Yu#, Qing Zhou#. Identification of an IL-1 receptor mutation driving autoinflammation directs IL-1-targeted drug design. Immunity 2023.
Jun Wang, Qiao Ye, Wenjie Zheng, Xiaomin Yu, Fang Luo, Ran Fang, Yaoyao Shangguan, Zhijun Du, Pui Y Lee, Taijie Jin#, Qing Zhou#. Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease. Annals of the Rheumatic Diseases. 2022 Apr 15;annrheumdis-2021-221708.
Panfeng Tao, Shihao Wang, Seza Ozen, Pui Y Lee, Jiahui Zhang, Jun Wang, Huan Han, Zhaohui Yang, Ran Fang, Wanxia Li Tsai, Huanming Yang, Erdal Sag, Rezan Topaloglu, Ivona Aksentijevich, Xiaomin Yu#, Qing Zhou#. Deubiquitination of proteasome subunits by OTULIN regulates type I IFN production. Science advances 2021, Vol 7, Issue 47.
Natalie T Deuitch#, Dan Yang, Pui Y Lee, Xiaomin Yu, ..., Daniel L Kastner, Ivona Aksentijevich#, Qing Zhou#. TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2). Journal of Allergy and Clinical Immunology, 2021.
Kai Yan, Jiahui Zhang, Pui Y Lee, Panfeng Tao, Jun Wang, Shihao Wang, Qing Zhou#, Minyue Dong#. Haploinsufficiency of PSMD12 causes proteasome dysfunction and subclinical autoinflammation. Arthritis & Rheumatology. doi: 10.1002/art.42070. 2022
Pui Y. Lee, Ivona Aksentijevich, Qing Zhou#. Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2). Seminars in Immunopathology. 2022
Jiahui Peng, Yusha Wang, Xu Han, Changming Zhang,... , Qing Zhou#, Zhihong Liu#. Clinical Implications of a New DDX58 Pathogenic Variant That Causes Lupus Nephritis due to RIG-I Hyperactivation. Journal of The American Society of Nephrology, 2022; ASN.2022040477.
Changming Zhang, Xu Han, Ying Jin, Xiang Chen, … Xiaomin Yu, Qing Zhou#, Zhihong Liu#. Pathogenic Gene Spectrum and Clinical Implication in Chinese Patients with Lupus Nephritis. Clinical Journal of the American Society of Nephrology. 2023
Panfeng Tao, Xu Han, Qintao Wang, Shihao Wang, Jiahui Zhang, Lin Liu, Xiaorui Fan, Chenlu Liu, Meng Liu, Li Guo, Pui Y. Lee, Ivona Aksentijevich, Qing Zhou#. A gain-of-function variation in PLCG1 causes a new immune dysregulation disease. Journal of Allergy and Clinical Immunology, 2023.
Jiahui Zhang, Pui Y.Lee, Ivona Aksentijevich, Qing Zhou#. How to build a fire: the genetics of autoinflammtory diseases. Annual Review of Genetics, 2023.
Qing Zhou*, Dan Yang*, Amanda K. Ombrello, Daniel L Kastner, Ivona Aksentijevich, et al. Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2. New England Journal of Medicine 2014; 370(10):911-920.
Qing Zhou*, Hongying Wang*, Daniella M. Schwartz, Daniel L Kastner, Ivona Aksentijevich, et al. Loss-of-Function Mutations in TNFAIP3 Leading to A20 Haploinsufficiency Cause an Early Onset Autoinflammatory Disease. Nature Genetics 2016, doi:10.1038/ng.3459.
Qing Zhou*, Xiaomin Yu*, Erkan Demirkaya, Daniel L Kastner, Ivona Aksentijevich, et al. Biallelic Hypomorphic Mutations in a Linear Deubiquitinase Define Otulipenia, an Early-Onset Autoinflammatory Disease. Proceedings of the National Academy of Sciences, 2016 doi: 10.1073/pnas.1612594113.
Qing Zhou*, Geun-Shik Lee*, Jillian Brady, Daniel L Kastner, Ivona Aksentijevich, et al. A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cg2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency. The American Journal of Human Genetics 2012 Oct 5;91(4):713-20.
Qing Zhou, Ivona Aksentijevich, Geryl M. Wood, et al. Cryopyrin-associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation. Arthritis & Rheumatology 2015 May 18. doi: 10.1002/art.39190.
Daniel L. Kastner, Qing Zhou, Ivona Aksentijevich. Mutant ADA2 in Vasculopathies. New England Journal of Medicine 2014 Jul 31;371(5):480.
Joris van Montfrans, Andrey Zavialov, Qing Zhou. Mutant ADA2 in Vasculopathies. New England Journal of Medicine 2014 Jul 31;371(5):478.
Kalpana Manthiram, Qing Zhou, Ivona Aksentijevich, Daniel L Kastner. The Monogenic Autoinflammatory Diseases Define New Pathways in Human Innate Immunity and Inflammation. Nature Immunology, 18, 832–842, 2017.
Erkan Demirkaya*, Qing Zhou*, Carolyne K. Smith*, Ivona Aksentijevich, et al. Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.Arthritis & Rheumatology, 2017. DOI:10.1002/art.40158.
Extended list of publications:
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