杨勇
电子邮件: dryongyang(at)bjmu(dot)edu(dot)cn；
电话: +86-10-83575810；
实验室主页: http://www.pkugene.com/viewthread.php?tid=5448&extra=page%3D1
研究方向:
遗传性皮肤病和离子通道。课题组首次确定了人类的6种新的遗传性皮肤病的致病基因和发病机制，其中4种为离子通道病，率先提出了皮肤离子通道病的概念，建立了国际皮肤科领域的首个电生理学研究组。此外，课题组在2002年成功进行了国内首例遗传性皮肤病的产前诊断工作，目前常规开展重症遗传性皮肤病的遗传咨询、基因诊断及产前诊断。拟通过遗传学、分子生物学、细胞生物学、电生理学、动物学和在体实验等手段，以单基因遗传性皮肤病为切入点，揭示离子通道在维系皮肤的正常感觉、屏障、毛发发育、免疫等功能中所发挥的作用，进而探讨其在皮肤炎症、感染、修复、老化及癌变中的作用，诠释多种常见、顽固性皮肤病的发病机理，探索更为安全有效的皮肤病治疗方法。
代表性科研论文:
1. 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, 41(3): 171-4, 2004.
2. L Wang, D Bu, Y Yang, X Chen, X Zhu, Castleman's tumours and production of autoantibody in paraneoplastic pemphigus. LANCET, 363: 525-31, 2004.
3. C Han, AM Rush, SD Dib-Hajj, S Li, Z Xu, Y Wang, L Tyrrell, X Wang, Y Yang*, SG Waxman*, Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. ANNALS OF NEUROLOGY, 59(3): 553-8, 2006.
4. C Han, SD Dib-Hajj, Z Lin, Y Li, EM Eastman, L Tyrrell, X Cao, Y Yang*, SG Waxman*, Early- and late-onset inherited erythromelalgia: genotype–phenotype correlation. BRAIN, 132(7): 1711-22, 2009.
5. Z Lin, Q Chen, M Lee, X Cao, J Zhang, D Ma, L Chen, X Hu, H Wang,1 X Wang, P Zhang, X Liu, L Guan, Y Tang, H Yang, P Tu, D Bu, X Zhu, K Wang, R Li*, Y Yang*, Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 90(3): 558-64, 2012.
6. Z Lin, Q Chen, L Shi, M Lee, K.A. Giehl, Z Tang, H Wang, J Zhang, J Yin, L Wu, R Xiao, X Liu, L Dai, X Zhu, R Li, R.C. Betz, X Zhang*, Y Yang*. Loss-of-function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia. AMERICAN JOURNAL OF HUMAN GENETICS, 91(5): 906-11, 2012.
7. H Wang, X Cao, Z Lin, M Lee, X Jia, Y Ren, L Dai, L Guan, J Zhang, X Lin, J Zhang, Q Chen, C Feng, EY Zhou, J Yin, G Xu, Y Yang*. Exome sequencing reveals mutation in GJA1 as a cause of keratoderma- hypotrichosis- leukonychia totalis syndrome. HUMAN MOLECULAR GENETICS, 24(1):243-50, 2015.
8. Z Lin, J Zhao, D Nitoiu, C Scott, V Plagnol, F Smith, N Wilson, C Cole, M Schwartz, W McLean, H Wang, C Feng, L Duo, E Zhou, Y Ren, L Dai, Y Chen, J Zhang, X Xu, E O’Toole, D Kelsell, Y Yang. Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads. AMERICAN JOURNAL OF HUMAN GENETICS, 96(3): 440-7, 2015.