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Email: dryongyang(at)bjmu(dot)edu(dot)cn;

Telephone: +86-10-83575810;

Lab Homepage: http://www.pkugene.com/viewthread.php?tid=5448&extra=page%3D1



Research Area:
Our research is focused on genetic skin disorders and ion channels. We identified the causative genes and pathogenesis for six genetic disorders, including four ion channel disorders. We proposed the concept of skin channelopathies and established the first electrophysiology research group in dermatology field. In addition, our group successfully conducted the first prenatal diagnosis of hereditary skin disease in China in 2002. We are now doing regularly genetic counseling, genetic diagnosis and prenatal diagnosis of severe genetic skin diseases. Taken monogenic disorders as a point of entry, by means of genetics, molecular biology, cell biology, electrophysiology, animal and in vivo experiments, we are trying to reveal the roles of ion channels in maintaining normal skin feeling, barriers, hair growth, immune, and in skin inflammation, infection, wound healing, aging and carcinogenesis. Our goal is to interpret pathogenesis of a variety of common and stubborn skin diseases, and to explore safer and effective treatments against skin diseases.



Selected Publications:
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.



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