欢迎您来到北京大学基础医学院!
返回首页统一登录

宋书娟遗传 ,副教授,硕导

 电话:82802975

 E-mail:Shujuansong@bjmu.edu.cn

 办公地址:

主要学习及工作经历 1990.9 - 1994.7 河北大学生物系 本科生 1994.9 - 1997.7 首都师范大学 遗传学专业 硕士研究生 2001.9 - 2005.7 北京大学干细胞研究中心 细胞生物学专业 博士研究生 1997.8 - 2000.2 首都师范大学 生物系 助教/讲师 2000.3 - 2008.7 北京大学医学部 基础医学院 医学遗传系 讲师 2008.8 - 今 北京大学医学部 基础医学院 医学遗传系 副教授
主要学术任职 中国优生优育杂志常务编委
获奖情况 2005年度辽宁省科技进步二等奖
研究方向 单基因遗传病的分子诊断和发病机制研究
基金来源 973子课题
代表论文 1. Wenhui Wang, Shujuan Song*, Linfeng Li, Long Zhang, Shaomin Yang, Qian Zhang, Yuying Wang, and Tingting Sun. Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type. Eur J Dermatol. 2010; 20: 567-572. 2. Cheng Zhou, Shujuan Song#, Jianzhong Zhang. A novel 3017 bp deletion mutation in the KIND1 gene in a Chinese family with Kindler syndrome. Br J Dermatol. 2009; 160:1119-1122. 3. Jinhua Wen*, Yuanyuan Chen*, Shujuan Song*, Jun Ding, Yan Gao, Qikuan Hu, Ruopeng Feng, Yinzhi Liu, Guocheng Ren, Chengyu Zhang, Tianpei Hong, Xiang Gao and Lingsong Li. PAX6 regulates glucose metabolism via PC1/3-mediated proinsulin processing. Diabetologia. 2009; 52:504-513. 4. Shujuan Song, Dong Han, Hong Qu, Yu Gong, Hua Wu, Xiaoxia Zhang, Nanbert Zhong, Hailan Feng. EDA mutations underlie non-syndromic oligodontia. Journal of Dental Research, 2009; 88:126-131. 5. Dong Han, Yu Gong, Hua Wu, Xiaoxia Zhang, Ming Yan, Xiaozhu Wang, Hong Qu, Hailan Feng, Shujuan Song#. Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA- associated isolated tooth agenesis European Journal of Medical Genetics, 2008; 51: 536-546. 6. Shujuan Song, Chen Shen, Guoping Song, Xiuzhen Mao, Guodi Yan, Xiaozhu Wang, Ming Yan, Nanbert Zhong. A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma. Br J Dermatol. 2008; 159:714-719. 7. 宋书娟,闫明,王小竹,章远志,邹俊华,钟南. 在两个X连锁显性腓骨肌萎缩症家系中发现同一GJB1基因突变Glu208Lys. 遗传, 2007; 29: 800-804. 8. Shujuan Song, Yuanzhi Zhang, Biao Chen, Manjie Wang, Ming Yan, Junhua Zou, Yuanjin Zhang, Huang Yu and Nanbert Zhong. Mutation Frequency for CMT1 in the Chinese is Similar to that in the Global Ethnic Patients. Genetics in Medicine, 2006; 8: 532-535. 9. Shujuan Song, Yingzhi Liu, Shuhua Guo, Lirong Zhang, Xiaoyan Zhang, Shuling Wang, Aili Lu, Lingsong Li. A novel PAX6 gene mutation in a Chinese family with aniridia. Molecular Vision, 2005; 11:335-337. 10. Song Shu-juan, Liu Ying-zhi, Cong Ri-chang, Wang Shu-ling, Zhang Xiao-yan, Ma Zhi-zhong and Li Ling-song. Mutation analysis of PAX6 gene in a large Chinese family with aniridia. Chinese Medical Journal, 2005; 118:302-306.

友情链接:

北大医学部

版权:Copyright 北京大学医学部 All Right Reserved .

地址:北京市海淀区学院路38号

邮编:100191    京ICP备05065075号-19

公众号        微博