设为首页 | 加入收藏 | 中文版 | English
科学研究
  相关链接
当前位置 >> [返回首页] >> 科学研究 >> 皮肤性病发病机制

通过大样本量的流行病学调查、分子遗传学及功能学研究,致力于皮肤病及性病的遗传和环境致病因素的探索。目前发现了多种皮肤性病的重要发病机制。

    揭示银屑病患者具有较高的超重和肥胖患病率,证明超重/肥胖对银屑病的严重程度和临床表现具有不同程度的风险效应;通过Meta分析发现吸烟于银屑病正相关,发现中国汉族人群播散性浅表性光化性汗孔角化症、点状掌跖角化症、毛囊闭锁三联征、Mari Unna遗传性少毛症的系列致病基因,揭示了这些常见皮肤单基因病的发病机制。

基金支持:

1.家族性掌跖型多汗症致病基因的鉴定,国家自然基金委中加合作课题(813111119),2014.01-2016.12100

2.全基因组外显子测序搜寻多汗症致病基因研究,国家自然基金面上项目(81271749)2013.01-2015.1270

3. 外显子测序鉴定进行性对称性红斑角化症的致病基因研究,国家自然科学基金面上项目(31171223),2012.01-2015.1264

4. 播散型浅表性光化性汗孔角化症发病的分子机制研究,国家自然基金面上项目(81271748)2013.01-2015.1260

5. 全基因组外显子测序搜寻点状掌跖角化症致病基因研究,国家自然科学基金青年基金(31100907),2012.01-2014.1225

代表性文章:

1. Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet. 2012 Oct;44(10):1156-60.

2. Cui H, Gao M, Wang W, Xiao R, Chen G, Zhang Q, Fu H, Zhou Y, Guo B, Dong Y, Shen J, Zhang M, Yue Z, Liu F, Lin D, Gao T, Zhang A, Zhou W, Sun L, Yang S, Wang J, Cui Y, Zhang XJ. Six Mutations in AAGAB Confirm Its Pathogenic Role in Chinese Punctate Palmoplantar Keratoderma Patients. J Invest Dermatol. 2013 Nov;133(11):2631-4.

3. Guo BR, Zhang X, Chen G, Zhang JG, Sun LD, Du WD, Zhang Q, Cui Y, Zhu J, Tang XF, Xiao R, Liu Y, Li M, Tang HY, Yang X, Cheng H, Li M, Gao M, Li P, Wang JB, Xu FP, Zuo XB, Zheng XD, Zhang XG, Yang L, Liu JJ, Wang J, Yang S, Zhang XJ. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet. 2012 Sep;49(9):563-8.

4. Liu Y, Gao M, Lv YM, Yang X, Ren YQ, Jiang T, Zhang X, Guo BR, Li M, Zhang Q, Zhang P, Zhou FS, Chen G, Yin XY, Zuo XB, Sun LD, Zheng XD, Zhang SM, Liu JJ, Zhou Y, Li YR, Wang J, Wang J, Yang HM, Yang S, Li RQ, Zhang XJ. Confirmation by Exome Sequencing of the Pathogenic Role of NCSTN Mutations in Acne Inversa (Hidradenitis Suppurativa). J Invest Dermatol 2011; 131(7):1570-2.

5. Zhang Y, Wang Y, Yu R, Huang Y, Su M, Xiao C, Martinka M, Dutz JP, Zhang XJ, Zheng Z, Zhou Y. Molecular markers of early-stage mycosis fungoides. J Invest Dermatol. 2012 Jun;132(6):1698-706

6. Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ. Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. J Med Genet. 2012;49(12):727-30.

7. Cui HZ, Li LN, Wang WJ, Shen J, Yue Z, Zheng XD, Zuo XB, Liang B, Gao M, Fan X, Yin XY, Shen CB, Yang C, Zhang CG, Zhang XG, Sheng YJ, Gao JP, Zhu ZW, Lin D, Zhang AP, Wang ZX, Liu SX, Sun LD, Yang S, Cui Y, Zhang XJ. Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. J Med Genet. 2014;51(10):699-704.

8. Zhu KJ, He SM, Sun LD, Hu D, Cheng H, Zhang Z, Li Y, Lv YM, Zhang FY, Yang S, Zhang XJ. Smoking and psoriasis: A meta-analysis of case-control studies. J Dermatol Sci. 2011 Aug; 63(2):126-8.

9. Zhang C, Zhu KJ, Zheng HF, Cui Y, Zhou FS, Chen YL, Tang XF, Li M, Zhang FY, Fan X, Zuo XB, Yang S, Sun LD, Zhang XJ. The effect of overweight and obesity on psoriasis patients in Chinese Han population: a hospital-based study. J Eur Acad Dermatol. 2011 Jan; 25(1): 87-91.

带头人:杨森教授

骨干成员:高敏、周育文、张胜权、陈刚

 

Copyrights 2012-2013 版权所有:安徽医科大学皮肤病研究所
地址:安徽省合肥市梅山路81号 电话:0551-65138576 传真:0551-65161016 邮编:230032
未经书面允许不得转载信息内容 皖ICP备案号:皖ICP备13000339号 网站制作:安徽华易科技