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基礎(chǔ)醫(yī)學(xué)研究所

個人簡介

沈巖,1951年生,籍貫北京,醫(yī)學(xué)分子遺傳學(xué)家,中國醫(yī)學(xué)科學(xué)院基礎(chǔ)醫(yī)學(xué)研究所研究員,博士生導(dǎo)師。2003年當(dāng)選中國科學(xué)院院士,曾任國家自然科學(xué)基金委員會副主任、中國科學(xué)技術(shù)協(xié)會副主席,現(xiàn)任全國人大代表、全國人大環(huán)資委委員。主要從事人類遺傳疾病基因識別、DNA診斷和疾病分子機理研究。已在Nature等期刊發(fā)表SCI收錄論文200余篇,參加編寫專著8部。獲《國家自然科學(xué)獎》二等獎2項,并多次獲《中華醫(yī)學(xué)科技獎》等獎項。


主要研究方向

主要從事人類遺傳疾病基因識別、DNA診斷和疾病分子機理研究,從遺傳學(xué)層面入手探索單基因病和重性精神疾病的發(fā)病機制,尤其側(cè)重于新研究策略和研究方法的建立。


代表性成果

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1. B Wang#, W Yang#, W Wen#, J Sun#, B Su#, B Liu, D Ma, D Lv, Y Wen, T Qu, M Chen, M Sun, Y Shen*, X Zhang*. Gamma-secretase gene mutations in familial acne inversa. Science. 2010 Nov 19; 330(6007):1065. (IF=28.103, C100)

2. T Chen#, Q Li#, J Xu, K Ding, Y Wang, W Wang, S Li, Y Shen*. Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias. European Journal of Human Genetics. 2007 Jan; 15(1):23-8. (IF=4.28 , C100)

3. H Sun#, Z Ma#, Y Li, B Liu, Z Li, X Ding, Y Gao, W Ma, X Tang, X Li, and Y Shen*. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. Journal of Medical Genetics. 2005 Sep; 42(9): 706–10. (IF=7.037 , C100)

4. K Ding#, K Zhou, J Zhang, J Knight, X Zhang, Y Shen*. The effect of haplotype-block definitions on inference of haplotype-block structure and htSNPs selection. Molecular Biology and Evolution. 2005 Jan; 22(1):148-59. (IF=5.51, C100)

5. B Zhang#, Y Yuan, Y Jia, X Yu, Q Xu, Y Shen, Y Shen*. An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. European Psychiatry. 2005 Jan; 20(1):45-9. (IF=3.365 , C100)

6. Chinese Schizophrenia Consortium. (Group 1: Q Xu#, Y Jia, B Zhang, K Zou, Y Tao, Y Wang, B Qiang, G Wu, and Y Shen*; Group 2: H Ji, Y Huang, X Sun, L Ji, and Y Li; Group 3: Y Yuan, L Shu, X Yu, and Y Shen, Group 4: Y Yu, G Ju, S Liu, J Shi) Association study of SNP combination pattern in dopaminergic pathway with paranoid schizophrenia – A novel strategy for complex disorder. Molecular Psychiatry, 2004, 9(5): 510-21. (IF=15.47 , C100)

7. X Sun#, H Zhang, D Wang, D Ma, Y Shen*, Y Shang*. DLP, a novel Dim1 family protein implicated in pre-mRNA splicing and cell cycle progression. Journal of Biological Chemistry. 2004 Jul 30; 279(31):32839-47. (IF=5.328 , C100)

8. Y Yang#, Y Wang#, S Li, Z Xu, H Li, L Ma, J Fan, D Bu, B Liu, Z Fan, G Wu, J Jin, B Ding, X Zhu*, Y Shen*. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. Journal of Medical Genetics. 2004 Mar; 41(3):171-4. (IF= 7.037, C100)

9. Y Chen#, J Lu, H Pan, Y zhang, H Wu, K Xu, X Liu, Y Jiang, X Bao, Z Yao, K Ding, W H Lo, B Qiang, P Chan, Y Shen*, X Wu*. Association between genetic variation of CACNA1H and childhood absence epilepsy. Annals of Neurology. 2003 Aug; 54(2):239-43. (IF=10.746 , C100)

10. X Zhang#, J Zhao#, C Li, S Gao, C Qiu, P Liu, G Wu, B Qiang, W H Lo, Y Shen*. DSPP mutation in dentinogenesis imperfecta Shields type II. Nature Genetics. 2001 Feb; 27(2):151-2. (IF= 36.377, C100ESIF1000)