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夏 昆

夏昆,1971年4月出生,中共党员,博士,研究员,博士生导师,长江学者特聘教授,国家杰出青年基金获得者,973项目首席科学家,国务院政府特殊津贴获得者,教育部创新团队带头人,教育部新世界优秀人才,新世纪百千万人才工程国家级人选,中华医学基金会(CMB)杰出教授。现任中南大学湘雅医学院常务副院长、基础医学院院长(兼)、医学遗传学湖南省重点实验室主任。先后主持973计划首席科学家项目、863重大专项、国家自然科学基金重点项目等国家、部省级项目20余项,发表论文300余篇。

    主要研究方向及内容

    人类遗传性疾病的家系收集、致病/易感基因定位、克隆和功能机制研究。定位了20余个遗传病致病基因新位点,克隆了角膜环状皮样瘤、高度近视等遗传性疾病新致病基因10余个。在我国最早开展了儿童孤独症(自闭症)的全基因组研究,完成我国第一个孤独症GWAS研究、全基因组CNVs研究和大样本靶向测序,发现近百个新的孤独症风险基因、CNVs和易感基因位点。

    代表性论文

    Xu, X. #, C. Li#, X. Gao#, K. Xia#, H. Guo, Y. Li, Z. Hao, L. Zhang, D. Gao, C. Xu, H. Xu, Z.Q. Xiong, Z. Qiu, L. Mei, X. Xie, K. Ruan, and R. Hu*, Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders. Cell Res, 2018. 28(1): p. 48-68. 

    2. Xia, K. #, H. Guo#, Z. Hu#, G. Xun, L. Zuo, Y. Peng, K. Wang, Y. He, Z. Xiong, L. Sun, Q. Pan, Z. Long, X. Zou, X. Li, W. Li, X. Xu, L. Lu, Y. Liu, Y. Hu, D. Tian, L. Long, J. Ou, Y. Liu, X. Li, L. Zhang, Y. Pan, J. Chen, H. Peng, Q. Liu, X. Luo, W. Su, L. Wu, D. Liang, H. Dai, X. Yan, Y. Feng, B. Tang, J. Li, Z. Miedzybrodzka, J. Xia, Z. Zhang, X. Luo, X. Zhang, C.D. St, J. Zhao*, and F. Zhang*, Common genetic variants on 1p13.2 associate with risk of autism. Mol Psychiatry, 2014. 19(11): p. 1212-9. 

    3. Guo, H. #, T. Wang#, H. Wu, M. Long, B.P. Coe, H. Li, G. Xun, J. Ou, B. Chen, G. Duan, T. Bai, N. Zhao, Y. Shen, Y. Li, Y. Wang, Y. Zhang, C. Baker, Y. Liu, N. Pang, L. Huang, L. Han, X. Jia, C. Liu, H. Ni, X. Yang, L. Xia, J. Chen, L. Shen, Y. Li, R. Zhao, W. Zhao, J. Peng, Q. Pan, Z. Long, W. Su, J. Tan, Du X, X. Ke, M. Yao, Z. Hu, X. Zou, J. Zhao, R.A. Bernier, E.E. Eichler*, and K. Xia*, Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. Mol Autism, 2018. 9: p. 64. 

    4. Zeng, S. #, M.Y. Zhang, X.J. Wang, Z.M. Hu, J.C. Li, N. Li, J.L. Wang, F. Liang, Q. Yang, Q. Liu, L. Fang, J.W. Hao, F.D. Shi, X.B. Ding, J.F. Teng, X.M. Yin, H. Jiang, W.P. Liao, J.Y. Liu, K. Wang, K. Xia*, and B.S. Tang*, Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy. J Med Genet, 2018. 

    5. Wang, Y. #, C. Zeng#, J. Li#, Z. Zhou, X. Ju, S. Xia, Y. Li, A. Liu, H. Teng, K. Zhang, L. Shi, C. Bi, W. Xie, X. He, Z. Jia, Y. Jiang, T. Cai, J. Wu, K. Xia*, and Z.S. Sun*, PAK2 Haploinsufficiency Results in Synaptic Cytoskeleton Impairment and Autism-Related Behavior. Cell Rep, 2018. 24(8): p. 2029-2041. 

    6. Xiang, R. #, L.L. Fan#, H. Huang, Y.Q. Chen, W. He, S. Guo, J.J. Li, J.Y. Jin, Du R, R. Yan*, and K. Xia*, Increased RTN3 Leads to Obesity and Hypertriglyceridemia by Interacting with HSPA5(2018). Circulation,. 

    7. Li, J. #, L. Wang#, H. Guo, L. Shi, K. Zhang, M. Tang, S. Hu, S. Dong, Y. Liu, T. Wang, P. Yu, X. He, Z. Hu, J. Zhao, C. Liu, Z.S. Sun*, and K. Xia*, Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders(2017). Mol Psychiatry. 22(9): p. 1282-1290. 

    8. Wang, T. #, H. Guo#, B. Xiong#, H.A. Stessman#, H. Wu, B.P. Coe, T.N. Turner, Y. Liu, W. Zhao, K. Hoekzema, L. Vives, L. Xia, M. Tang, J. Ou, B. Chen, Y. Shen, G. Xun, M. Long, J. Lin, Z.N. Kronenberg, Y. Peng, T. Bai, H. Li, X. Ke, Z. Hu, J. Zhao, X. Zou, K. Xia*, and E.E. Eichler, De novo genic mutations among a Chinese autism spectrum disorder cohort(2016). Nat Commun, 7: p. 13316. 

    9. Guo, H. #, P. Tong#, Y. Liu#, L. Xia, T. Wang, Q. Tian, Y. Li, Y. Hu, Y. Zheng, X. Jin, Y. Li, W. Xiong, B. Tang, Y. Feng, J. Li, Q. Pan, Z. Hu*, and K. Xia*, Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. Genet Med, 2015. 17(4): p. 300-6. 

    10. ADDIN EN.REFLIST  Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

    Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Eichler E E and Xia K.Sci Adv.2019;5(9):eaax2166.10.1126/sciadv.aax2166.Epub 2019/10/04 

    实验室网址:http:// xysm.csu.edu.cn
    E-mail: xiakun@sklmg.edu.cn
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