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基礎醫學研究所

  • 姓 名:

    張學

  • 單 位:

    中國醫學科學院基礎醫學研究所

  • 教職崗位:

    教授

  • 聘任時間:

    2018-07-01

  • 一級學科:

    生物學

  • 二級學科:

    遺傳學

  • 聯系方式:

    xuezhang@pumc.edu.cn

  • 導師風采鏈接:
    https://yzbss.pumc.edu.cn/basicinfo/tutorinfo/tutordetail/J2009060155

個人簡介

張學,1964年生,籍貫黑龍江省大慶市,醫學遺傳學家,博士生導師,現任中國醫學科學院基礎醫學研究所醫學遺傳學系主任、長聘教授,哈爾濱醫科大學校長。1994年于中國醫科大學細胞生物學專業獲得博士學位。1989年-2002年,擔任中國醫科大學基礎醫學院醫學遺傳學教研室助教、講師。2001年至今,擔任中國醫學科學院基礎醫學研究所醫學遺傳學系主任。2018年,擔任哈爾濱醫科大學校長。2019年,當選為中國工程院院士。


主要研究內容

利用人類基因組研究的成果和我國的家系資源優勢,進行單基因遺傳病和多種出生缺陷致病基因的識別和功能研究以及基因組病遺傳缺陷的鑒定。


代表性成果

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1.Chao Ling#, Yi Dai, Li Fang, Fengxia Yao, Zhe Liu, Zhengqing QiuLiying Cui, Fan Xia, Chen Zhao, Shuyang Zhang, Kai Wang*, Xue Zhang*. Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies. Hum Mutat. 2020 Mar;41(3):668-677. (IF=4.700)

2. Xiao-Jian Wang#, Xi-Qi Xu#, Kai Sun#, Ke-Qiang Liu, Su-Qi Li, Xin      

Jiang, Qin-Hua Zhao, Lan Wang, Fu-Hua Peng, Jue Ye, Yan Wu, Rui Jiang, Jin Zhang, Wei Huang, Wen-Bin Wei, Yi Yan, Jing-Hui Li, Qian-Qian Liu, Sheng Li, Yong Wang, Shu-Yang Zhang, Xue Zhang*, Zhi-Cheng Jing*. Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension. JAMA Cardiol. 2020 Jun 1;5(6):677-684. (IF=30.154)

3. Jun Yang#, Lianqing Wang, Yingzhi Huang, Keqiang Liu, Chaoxia Lu, Nuo Si, Rongrong Wang, Yaping Liu*, Xue Zhang*. Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression. Front Med. 2020 Jun;14(3):305-317. (IF=9.927)

4. Liang Cheng#, Changlu Qi, He Zhuang, Tongze Fu, Xue Zhang*. gutMDisorder: a comprehensive database for dysbiosis of the gut microbiota in disorders and interventions. Nucleic Acids Res. 2020 Jan 8;48(D1):D554-D560. (IF=19.160)

5. Lulu Li#, Bin Mao#, Shan Li#, Jifang Xiao, Han Wang, Jing Zhang, Xiuzhi Ren, Yanzhou Wang, Yiyang Wu, Yixuan Cao, Chaoxia Lu, Jinsong Gao, Yi You, Feiyue Zhao, Xingzhu Geng, Yaxiong Xiao, Chendan Jiang, Yuqian Ye, Tao Yang, Xiuli Zhao*, Xue Zhang*. Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. Hum Mutat. 2019 May;40(5):588-600. (IF=4.700)

6. Chaoxia Lu#, Wei Wu#, Fang Liu, Kunqi Yang, Jiacheng Li, Yaping Liu, Rongrong Wang, Nuo Si, Peng Gao, Yongtai Liu, Shuyang Zhang*, Xue Zhang*. Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies. J Transl Med. 2018 Aug 30;16(1):241. (IF=8.440)

7. Xiaonan Liu#, Chao Zhang#, Kewu Liu, Han Wang, Chaoxia Lu, Hang Li, Kai Hua, Juanli Zhu, Wenli Hui, Yali Cui*, Xue Zhang*. Multiple SNPs Detection Based on Lateral Flow Assay for Phenylketonuria Diagnostic. Anal Chem. 2018 Mar 6;90(5):3430-3436. (IF=8.008)

8. Fang Liu#, Qing Liu#, Chao Xia Lu, Bo Cui, Xia Nan Guo, Rong Rong Wang, Ming Sheng Liu, Xiao Guang Li, Li-Ying Cui, Xue Zhang*. Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis. Neurobiol Aging. 2016 Nov;47:219.e1-219.e5. (IF=5.133)

9. Qing Liu#, Fang Liu#, Bo Cui, Chao Xia Lu, Xia Nan Guo, Rong Rong Wang, Ming Sheng Liu, Xiao Guang Li, Li-Ying Cui*, Xue Zhang*. Mutation spectrum of Chinese patients with familial and sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1272-1274. (IF=13.654)

10. Qing Liu#, Shi Shu#, Rong Rong Wang, Fang Liu, Bo Cui, Xia Nan Guo, Chao Xia Lu, Xiao Guang Li, Ming Sheng Liu, Bin Peng, Li-Ying Cui, Xue Zhang*. Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS. Neurology. 2016 Oct 25;87(17):1763-1769. (IF=11.800)


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