博士，研究员，博士生导师
地址：东安路 131号，科研2号楼A2-009室，上海 200032
电话：021-54237615（办公室）
传真：021-54237615
邮箱：qhxing@fudan.edu.cn
重要出生缺陷发生机制及分子诊断技术研究：识别脑瘫、胆汁淤积等重要出生缺陷新致病基因，鉴定新临床亚型，绘制中国人群相关出生缺陷基因变异图谱，探讨相关分子机制，寻找早期诊断或产前诊断分子标记，建立新生儿筛查技术和产前诊断技术。
药物皮肤不良反应发生机制及个体化治疗技术研究：基于已建立的药物皮肤不良反应生物样本库，开展相关不良反应的遗传学机制研究，识别相关不良反应的风险等位基因，进行相关临床检测试剂盒的研发，建立相对完善的常见皮肤不良反应相关风险等位基因-致敏药物关联数据库，为临床实施个体化治疗、选择相对安全的药物提供分子标记和检测方法。
1. Wang Y, Xu Y, Zhou C, Cheng Y, Qiao N, Shang Q, Xia L, Song J, Gao C, Qiao Y, Zhang X, Li M, Ma C, Fan Y, Peng X, Wu S, Lv N, Li B, Sun Y, Zhang B, Li T, Li H, Zhang J, Su Y, Li Q, Yuan J, Liu L, Moreno-De-Luca A, MacLennan AH, Gecz J, Zhu D, Wang X, Zhu C*, Xing Q*. Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy. Nat Med. 2024 May 1. doi: 10.1038/s41591-024-02912-z.
2. Cheng Y; Xu Y; Li H; Qiao Y; Wang Y; Su Y; Zhang J; Wang X; Song L; Ding J; Wang D; Zhu C*; Xing Q*. Genetic variants in the HLA region contribute to the risk of cerebral palsy. Biochim Biophys Acta Mol Basis Dis. 2023 Dec 30;1870(3):167008.
3. Zhang J, Zhang Y, Shang Q, Cheng Y, Su Y, Zhang J, Wang T, Ding J, Li Y, Xie Y*, Xing Q*. Gain-of-Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy. Movement Disorders. Mov Disord. 2024 Mar;39(3):498-509.
4. Jiang M, Yang J, Yang L, Wang L, Wang Ting, Han S, Cheng Ye, Chen Z, Su Y, Zhang L, Yang F, Chen S, Zhang J, Xiong Hao, Wang L, Zhang Z, Ma L, Luo X*, and Xing Q*. An association study of HLA with levofloxacin-induced severe cutaneous adverse drug reactions in Han Chinese. iScience. 2023, Aug 18; 26(8): 107391.
5. Qiu YL, Wang L, Huang M, Lian M, Wang F, Gong Y, Ma X, Hao CZ, Zhang J, Li ZD, Xing* QH, Cao M*, Wang JS*. Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis. J Cell Physiol. 2022 Jun;237(6):2713-2723.
6. Jiang M, Yang F, Zhang L, Xu D, Jia Y, Cheng Y, Han S, Wang T, Chen Z, Su Y, Zhu Z, Chen S, Zhang J, Wang L, Yang L, Yang J, Luo X*, Xing Q*. Unique motif shared by HLA-B*59:01 and HLA-B*55:02 is associated with methazolamide-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese. J Eur Acad Dermatol Venereol. 2022 Jun;36(6):873-880.
7. Wang Y, Qiao Y, Cheng Y, Su Y, Song L, Xu Y, Li H, Zhang L, Song J, Zhang X, Wang J, Zhu D, Tang T, Shang Q, Gao C, Wang X, Zhu C*, Xing Q*. TEP1 is a risk gene for sporadic cerebral palsy.J Genet Genomics. 2021 Dec;48(12):1134-1138.
8. Liu J, Mayekar MK, Wu W, Yan M, Guan H, Wang J, Zaman A, Cui Y, Bivona TG, Choudhry H, Xing Q*, Cao W*. Long non-coding RNA ESCCAL-1 promotes esophageal squamous cell carcinoma by down regulating the negative regulator of APOBEC3G. Cancer Lett. 2020 Nov 28;493:217-227.
9. Xiong H, Jiang M, Shao F, Ye H, Zhang W, Chen Z, Zeng F, Chen SA, Yuan H, Yan L, Xing Q, Luo X. Risk and Association of HLA Alleles with Methimazole-Induced Cutaneous Adverse Reactions in Chinese Han Population. J Invest Dermatol. 2021 Feb;141(2):437-440.
10. Qi Z, Li S, Su Y, Zhang J, Kang Y, Huang Y, Jin F, Xing Q*. Role of microRNA-145 in protection against myocardial ischemia/reperfusion injury in mice by regulating expression of GZMK with the treatment of sevoflurane. J Cell Physiol. 2019 Sep;234(9):16526-16539.
11. Wang J, Tian GG, Zheng Z, Li B, Xing Q*, Wu J*. Comprehensive Transcriptomic Analysis of Mouse Gonadal Development Involving Sexual Differentiation, Meiosis and Gametogenesis. Biol Proced Online. 2019;21:20.
12. Zhou D, Wei Z, Kuang Z, Luo H, Ma J, Zeng X, Wang K, Liu B, Gong F, Wang J, Lei S, Wang D, Zeng J, Wang T, He Y, Yuan Y, Dai H, He L*, Xing Q*. A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation. J Cell Mol Med. 2017 Apr;21(4):802-815.
13. Qiu YL, Gong JY, Feng JY, Wang RX, Han J, Liu T, Lu Y, Li LT, Zhang MH, Sheps JA, Wang NL, Yan YY, Li JQ, Chen L, Borchers CH, Sipos B, Knisely AS, Ling V*, Xing QH*, Wang JS*. Defects in MYO5B are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis. Hepatology. 2017;65(5):1655-1669
14. Bi D, Chen M, Zhang X, Wang H, Xia L, Shang Q, Li T, Zhu D, Blomgren K, He L, Wang X, Xing Q*, Zhu C*. The association between sex-related interleukin-6 gene polymorphisms and the risk for cerebral palsy. J Neuroinflammation. 2014 Jun 6;11(1):100.
15. Zhang JY, Chen XD, Zhang Z, Wang HL, Guo L, Liu Y, Zhao XZ, Cao W*, Xing QH*, Shao FM. The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria. Br J Dermatol. 2013;169(3):637-44.
