杨雪艳

发布时间:2021-06-29浏览次数:3782

教师基本信息:

姓名:杨雪艳

职称:副研究员

电子邮箱:xueyanyang@fudan.edu.cn

办公地点:江湾校区mg4355娱乐线路检测官网A605

办公电话:021-31246609


研究方向:人类遗传学


个人简介:

女,博士,副研究员。1995-1999年就读于华中农业大学微生物系,获学士学位。1999-2005年,mg4355娱乐线路检测官网遗传所,获遗传学博士学位。2005-2008年于英国巴斯大学生物学与生化系进行发育生物学博士后研究。2013-2014年,美国国立卫生研究院(NIH)访问学者。200812月迄今,mg4355娱乐线路检测官网历任讲师,副研究员。主要致力于神经管畸形、先天性心脏病等重大出生缺陷的遗传学基础及致病机制研究,已在CirculationCell ResearchHuman mutation等期刊上发表SCI论文三十余篇。

1995-1999Department of Microbiology, Huazhong Agricultural University, Bachelor. 1999-2005, School of Life Sciences, Fudan University, PhD. 2005-2008, Department of Biology & Biochemistry, University of Bath, United Kingdom, Research officer. 2013-2014, NHGRI, National Institute of Health(NIH), USA, Visiting Scholar. From2008, School of Life Sciences, Fudan University, Lecturer, Associated Professor. We engaged in the genetic basis and pathogenesis of major birth defects, such as neural tube defects and congenital heart diseases. I have published more than 20 papers in Circulation, Cell research, Human Mutation and other journals.


授课情况:

主讲《遗传学》(Genetics)、《普通生物学实验》(Experiments in General Biology)《现代生命科学导论》(An introduction to Biological Sciences)、《生命的基石——细胞概论》(Introduction to Cell Biology)、《医学分子遗传学》(Molecular Medical Genetics)等课程。


招生专业:遗传学(Genetics


科研项目:

国家重点研发计划《中国女性早绝经风险预测及临床应用研究》(项目编号:2022YFC2703800),研究骨干

国家重点研发计划《重大出生缺陷中基因突变致病性的系统识别及其非经典致病机制解析》(项目编号2021YFC2701101),研究骨干


获奖情况:

2020年指导4位本科生组队参加全国大学生生物竞赛,获得上海赛区二等奖,全国三等奖。2019年荣获全国高校生命科学类微课教学比赛三等奖。


代表性论文和论著:

  1. A mutation in TBXT causes congenital vertebral malformations in humans and mice.Chen S, Lei Y, Yang Y, Liu C, Kuang L, Jin L, Finnell RH, Yang X*, Wang H*.

JGenet Genomics. 2023 Sep 24:S1673-8527(23)00203-5.

  1. Deleterious Rare Mutations of GLI1 Dysregulate Sonic Hedgehog Signaling in Human Congenital Heart Disease.Peng R, Li B, Chen S, Shi Z, Yu L, Gao Y, Yang X, Lu L, Wang H. Front Cardiovasc Med. 2022 Apr 4;9:798033.

  2. Rare variants in TULP3 abolish the suppressive effect on sonic hedgehog signaling and contribute to human neural tube defects. Kuang L, Jiang Y, Chen S, Su K, Peng R, Yang X*, Wang H*. Genes Dis. 2021 Dec 8;9(5):1174-1177.

  3. Feng X, Cheung JPY, Je JSH, Cheung PWH, Chen S, Yue M, Wang N, Choi VNT, Yang X, Song YQ, Luk KDK, Gao B.Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China. J Orthop Res. 2021 May;39(5):971-988.

  4. Ye J, Tong YLv JPeng RChen S, Kuang LSu KZheng YZhang TZhang F, Jin L, Yang X*Wang H*. Rare mutations in the autophagyregulating gene AMBRA1 contribute to human neural tube defects. Human Mutation.2020;41:1383–1393.

  5. Zou J, Wang F, Yang X, Wang H, Niswander L, Zhang T, Li H.Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes. Neural Dev. 2020 Jul 10;15(1):8. doi: 10.1186/s13064-020-00145-7.

  6. Su K, Chen S, Ye J, Kuang L, Zhang T, Wang H, Yang X*. A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population.Child Nervous System. 2019 Jun;35(6):965-972.

  7. Zhu MJ, Ma XY, Ding PC, Tang HF, Peng R, Lu L, Li PQ, Qiao B, Yang XY, Zheng YF, Wang HY, Gao YQ, Chen FS.Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort. J Hum Genet. 2019 May;64(5):427-435