赵秀丽 - 中国医学科学院基础医学研究所 -

个人简介

1991年大学本科毕业于河北师范大学生物系；1999-2000年任教于河北北方学院医学院；2003年在东南大学医学院获得遗传学硕士学位；2006年于北京协和医学院医学遗传学系获遗传学博士学位；2006至今在中国医学科学院基础医学研究所-北京协和医学院基础学院任职，期间于2008-2010年在美国约翰霍普金斯大学医学院完成博士后研究。现任北京协和医学院基础学院医学遗传学系教授，博士生导师和罕见病瓷娃娃协会医学顾问。

研究领域

1. 单基因遗传性骨病致病基因诊断技术和致病突变谱的研究 2. 利用人诱导干细胞和动物模型进行人类单基因遗传病的基因治疗研究

近期论文

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1. Zhao X#, Tang Z, Zhang H, Atianjoh FE, Zhao JY, Liang L, Wang W, Guan X, Kao SC, Tiwari V, Gao YJ, Hoffman PN, Cui H, Li M, Dong X, Tao YX. A long noncoding RNA contributes to neuropathic pain by silencing Kcna2 in primary afferent neurons. Nat Neurosci.2013, 16(8):1024-31（IF：15.251） 2. Xu J, Zhao J, Zhao X#, LigonsD, Tiwari V, Atianjoh FE, Liang L, Zang W, Njoku D, Raja SN, Yaster M, Tao YX. Morphine tolerance and hyperalgesia mediated through mu opioid receptor-triggered activation of the mammalian target of rapamycin complex 1 pathway in dorsal horn neurons. J Clin Invest. 2014 , 124(2): 592-603. (IF：13.069） 3. Zhao X#, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet. 2007, 80 (2): 361-71（IF：11.092） 4. Jiang M, Zhao X#, Han WT, Bian CY, Li XF, Wang G, Ao Y, Li YQ, Yi DX, Zhe Y, Lo HY Wilson, Zhang X, Li JX. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum Genet. 2006, 120 (2): 238-42 5. Kao SC, Zhao X, Lee CY, Atianjoh FE, Gauda EB, Yaster M, Tao YX. Absence of μ opioid receptor mRNA expression in astrocytes and microglia of rat spinal cord. Neuroreport. 2012, 23(6):378-84. 6. Cai F, Zhang YD, Zhao X, et al. Screening for AIP gene mutations in a Han Chinese pituitary adenoma cohort followed by LOH analysis. Eur J Endocrinol. 2013, 169: 867–884 7. Atianjoh FE, Yaster M, Zhao X, Takamiya K, Xia J, Gauda EB, Huganir RL, Tao YX.Spinal cord protein interacting with C kinase 1 is required for the maintenance of complete Freund's djuvant-induced inflammatory pain but not for incision-induced post-operative pain. Pain. 2010, 151(1):226-34. 8. Xu JT, Zhao X, Yaster M, Tao YX. Expression and distribution of mTOR, p70S6K, 4E-BP1, and their phosphorylated counterparts in rat dorsal root ganglion and spinal cord dorsal horn. Brain Res. 2010; 1336:46-57. 9. Zhao J, Hua R, Zhao X, Meng Y, Ao Y, Liu Q, Shang D, Sun M, Lo WH, Zhang X. Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia. Br J Dermatol. 2008;158(3): 614-7 10. 李璐璐，李媛，林蔚，赵秀丽*. 一个角膜-鱼鳞病-耳聋综合征家系的致病突变分析. 中华医学遗传学杂志. 2017, 34(5):462-5 11. 李闪，汪涵，苏华，高劲松，赵秀丽*. 应用PCR-HRM技术进行FGFR3热点突变的快速诊断. 中华医学遗传学杂志. 2017, 34(4):494-497 12. 汪涵, 赵秀丽*, 任秀智, 肖继芳, 张学. 成骨不全症家系COL1A1/2的大片段缺失突变分析.中华医学遗传学杂志. 2016, 33(4):431-434 13. 刘彦山，黄颖之，赵秀丽*，张学.遗传性乳光牙本质家系致病基因突变的鉴定.中华医学遗传学杂志.2016, 33(1):34-37 14. 赵秀丽#，肖继芳，汪涵，任秀智，高劲松，吴易阳，卢超霞，孙悦，张学.成骨不全症的COL1A1/2突变谱和基因诊断研究.中华医学杂志. 2015, 95(43):3484-3489