姓名：赵红珊

职称：教授

邮箱：hongshan@bjmu.edu.cn

联系地址：北京市学院路38号北京大学医学部基础医学院医学遗传学系

个人简介：女，1969年生，1999年12月在中国协和医科大学获得博士学位，1999年10月至2002年1月，在美国佛罗里达大学做博士后。2002年4月起在北京大学基础医学院工作，现任医学遗传学系教授，博士生导师，常务副主任，北京医学会罕见病分会委员。

主要研究方向：人类单基因疾病致病基因的定位克隆及单基因病发病机制研究；人类新的细胞增殖相关基因的功能及机制研究。

代表性研究成果：

1. Zhang X, Wang K, Zhao W, Cao L, Zhang S, Jin R, Sun X, Hao J, Huang X, Zhu M, Wu H, Zhao H, Ge Q. TRAF3IP3 at the trans-Golgi network regulates NKT2 maturation via the MEK/ERK signaling pathway.  Cell Mol Immunol. 2020 Apr;17(4):395-406.

2. Ma W, Jin H, Liu W, Li X, Zhou X, Guo X, Tian R, Cui Q, Luo J, Jiao Y, Yu Y, Yang H, Zhao H. Homeobox B8 Targets Sterile Alpha Motif Domain-Containing Protein 9 and Drives Glioma Progression. Neurosci Bull. 2020; 36, 359–371 (IF 4.246)

3. Ma W, Shen H, Li Q, Song H, Guo Y, Li F, Zhou X, Guo X, Shi J, Cui Q, Xing J, Deng J, Yu Y, Liu W, Zhao H.MARVELD1 attenuates arsenic trioxide-induced apoptosis in liver cancer cells by inhibiting reactive oxygen species production. Ann Transl Med. 2019 May;7(9):200. doi: 10.21037/atm.2019.04.38.

4. Cui Q, Xing J, Yu M, Wang Y, Xu J, Gu Y, Nan X, Ma W, Liu H, Zhao H.Mmu-miR-185 depletion promotes osteogenic differentiation and suppresses bone loss in osteoporosis through the Bgn-mediated BMP/Smad pathway. Cell Death Dis. 2019 Feb 20; 10(3):172. doi: 10.1038/s41419-019-1428-1.

5. Cui Q, Xing J, Gu Y, Nan X, Ma W, Chen Y, Zhao H.GXYLT2 accelerates cell growth and migration by regulating the Notch pathway in human cancer cells. Exp Cell Res. 2019 Mar 1;376(1):1-10. doi: 10.1016/j.yexcr.2019.01.023.

6. Xing J, Nan X, Cui Q, Ma W, Zhao H. Nop-7-associated 2 (NSA2) is required for ribosome biogenesis and protein synthesis. Biochem Biophys Res Commun. 2018 Oct 20;505(1):249-254

7. Wang Y, Chang H, Liu H, Liu Y, Han D, Xing J, Zhao H, Feng H, mmu-miR-1963 negatively regulates the ameloblast differentiation of LS8 cell line by directly targeting Smoc2 3'UTR, Exp Cell Res, 2018,362(2):444-449

8. Chang XD, Gu YJ, Dai S, Chen XR, Zhang CL, Zhao HS, Song QH, Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT), Mutagenesis, 2017, 32(6):599-606

9. Chang H, Wang Y, Liu H, Nan X, Wong S, Peng S, Gu Y, Zhao H, Feng H, Mutant Runx2 regulates amelogenesis and osteogenesis through a miR-185-5p-Dlx2 axis, Cell Death Dis, 2017,8(12):3221

10. Gu Y, Chang X, Dai S, Song Q, Zhao H, Lei P. Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant. Gene. 2017; 628:162-169

11. Cui YP, Chen YY, Wang XM, Wang XL, Nan X, Zhao H. Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient. Pediatr Neurol. 2015 Sep;53(3):262-5

12. Peng Saihui, Wang Ke, Gu Yajuan, Chen Yiyu, Nan Xu, Xing Jinhao, Cui Qi, Chen Yingyu, Ge Qing, Zhao Hongshan. TRAF3IP3, a novel autophagy- upregulated gene, is involved in MZ B lymphocyte development and survival. Clinical and experimental immunology. 2015; 182: 57–68 3.148

13. Zhang H, Ma X, Peng S, Nan X, Zhao H. Differential expression of MST4, STK25 and PDCD10 between benign prostatic hyperplasia and prostate cancer. Int J Clin Exp Pathol. 2014 Oct 15;7(11):8105-11.  1.891

14. Wong SW, Liu HC, Han D, Chang HG, Zhao HS, Wang YX, Feng HL. A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia. Mutagenesis. 2014 Sep;29(5):319-23.

15. Haochen Liu, Dong Han, Singwai Wong, Xu Nan, Hongshan Zhao, Hailan Feng. rs929387 of GLI3 Is Involved in Tooth Agenesis in Chinese Han Population. PLOS ONE 2013; 8 (11): e80860   3.534

16. Xu Nan, Shan Dai, Chun-ting Li, Xue-rong Chen, Hong-shan Zhao, Feng-shan Zhang , Qing-hua Song. Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I. Gene 2013; 523: 88–91 2.082

17. YE Zhen-zhen, NAN Xu, ZHAO Hong-shan, CHEN Xue-rong and SONG Qing-hua Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix. Chinese Medical Journal 2013;126 (16):3103-6

18. Zhang H, Ma X, Deng X, Chen Y, Mo X, Zhang Y, Zhao H, Ma D. PDCD10 interacts with STK25 to accelerate cell apoptosis under oxidative stress. Front Biosci. 2012 Jun 1; 17: 2295-305.

19. Wenjing Shen, Dong Han, Jin Zhang, Hongshan Zhao, Hailan Feng. Two Novel Heterozygous Mutations of EVC2 Cause a Mild Phenotype of Ellis–van Creveld Syndrome in a Chinese Family. AMERICAN JOURNAL OF MEDICAL GENETICS PART A  2011 Sep;155A(9):2131-6.

20. Heyu Zhang, Xi Ma, Taiping Shi, Quansheng Song, Hongshan Zhao, Dalong Ma. NSA2, a novel nucleolus protein regulates cell proliferation and cell cycle. Biochemical and Biophysical Research Communications 2010, 391: 651–658

21. Wang Y, Wu H, Wu J, Zhao H, Zhang X, Mues G, D'Souza RN, Feng H, Kapadia H. Identification and Functional Analysis of Two Novel PAX9 Mutations. Cells Tissues Organs. 2009;189:80-87

22. Guo-Rui Ruan, Hong-Shan Zhao, Yan Chang, Jin-Lan Li , Ya-Zhen Qin ,Yan-Rong Liu,  Shan-Shan Chen, Xiao-Jun Huang. Adenovirus-mediated PDCD5 gene transfer sensitizes K562 cells to apoptosis induced by idarubicin in vitro and in vivo. Apoptosis (2008) 13:641–648

23. Shao L, Cui Y, Li H, Liu Y, Zhao H, Wang Y, Zhang Y, Ng KM, Han W, Ma D, Tao Q. CMTM5 exhibits tumor suppressor activities and is frequently silenced by methylation in carcinoma cell lines. Clin Cancer Res. 2007 Oct 1;13(19):5756-62. Erratum in: Clin Cancer Res. 2007 Nov 1;13(21):6543.

24. Xi Ma, Hongshan Zhao，Jingxuan Shan, Feng Long, Yaoyao Chen，Yingyu Chen，Yingmei Zhang, Xiao Han, Dalong Ma. PDCD10 interacts with Ste20-related kinase MST4 to promote cell growth and transformation via modulating ERK pathway. Molecular biology of the cell, 2007，18: 1965-1978.

25. X.M. Gu, H.S. Zhao, L.S. Sun, and T.J. Li. PTCH Mutations in Sporadic and Gorlin-syndrome-related Odontogenic Keratocysts  J. Dent. Res. 2006 85: 859-863.

26. Li Q, Meng H, Zhang L, Xu L, Chen Z, Shi D, Feng X, Zhu X, Zhao H, Cao C. Correlation between single nucleotide polymorphisms in a calprotectin subunit gene and risk of periodontitis in a Chinese population.Ann Hum Genet. 2007, 71(Pt 3):312-24

27. Qi Yan Li, Hong Shan Zhao,Huan Xin Meng, Li Zhang, Li Xu, Zhi Bin Chen,Dong Shi,Xiang Hui Feng, and Xiao Ling Zhu. Association analysis between IL-1 family polymorphisms and aggressive periodontitis in Chinese. Journal of Periodontology.2004, 75(12):1627-35

28. Ying Wang, Hongshan Zhao, Xiaoxia Zhang, Hailan Feng. Novel identification of a four-base pair deletion in a Rieger Syndrome family. J Dent Res 2003, 82(12):1008-1012

29. Xi Ma,Guorui Ruan, Ying Wang, Qiyan Li,Ping Zhu,Ya-Zhen Qin,Jin-Lan Li, Yan-Rong Liu, Dalong Ma, Hongshan Zhao. Two single-nucleotide polymorphism in the human PDCD5 gene 5' regulatory region affects promoter activity and the susceptibility of CML in Chinese population. Clin Cancer Res，2005 11: 8592-8599

30. Huagang ZHANG, Hongshan ZHAO, Ming LU, Yingshuang ZHANG, Liping WANG, Jun Zhang, Dalong MA, Dongsheng FAN. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China. Amyotroph Lateral Sc, 2005; 6(4):234-8

31. Haizhen Zhu,  Hongshan Zhao, Christin D. Collins, Sarah E. Eckenrode, Qingguo Run,  Richard A. McIndoe, James M. Crawford, David R. Nelson, Jin-Xiong She, Chen Liu. Gene Expression Associated with IFNa Antiviral Activity in a HCV Replicon Cell Line. Hepatology.  2003, 37:1180-1188

32. Lijun Yang, Hongshan Zhao, Shi-Wu Li, Kim Ahrens, Christine Collins, Sarah Eckenrode, Qing-guo Ruan, Richard A. McIndoe, Jin-Xiong She. Gene expression patterns of retinoid acid-induced granylocytic differentiation of acute promyelocytic leukemic cells. Journal of Molecular Diagnostics, 2003， 5(4 ):212-221

33. Hongshan Zhao, Yong Tian, Guido Breedveld, Shangzhi Huang, Ying Zou, Jue Y, Jinghua Chai1, Hui Li, Mingyue Li, Ben A Oostra, Wilson HY Lo, Peter Heutink. Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19q13.1-13.2 in a Chinese kindred   European J Hum Genet , (2002) 10, 162-166