楊雪豔

發布時間:2021-06-27瀏覽次數:1805

教師基本信息:

姓名:楊雪豔

職稱:副研究員

電子郵箱:xueyanyang@fudan.edu.cn

辦公地點:江灣校區生命科學學院A605

辦公電話:021-31246609


研究方向:人類遺傳學


個人簡介:

女,博士,副研究員。1995-1999年就讀於華中農業大學微生物係,獲學士學位。1999-2005年,複旦大學生命科學學院遺傳所,獲遺傳學博士學位。2005-2008年於英國巴斯大學生物學與生化係進行發育生物學博士後研究。2013-2014年,美國國立衛生研究院(NIH)訪問學者。200812月迄今,複旦大學生命科學學院曆任講師,副研究員。主要致力於神經管畸形、先天性心髒病等重大出生缺陷的遺傳學基礎及致病機製研究,已在CirculationCell ResearchHuman mutation等期刊上發表SCI論文三十餘篇。

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 inthe 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.


授課情況:

主講《遺傳學》(Genetics)、《普通生物學實驗》(Experiments in General Biology)《現代生命科學導論》(An introduction to Biological Sciences)、《生命的基石——細胞概論》(Introduction to Cell Biology)、《醫學分子遺傳學》(Molecular Medical Genetics)等課程。


招生專業:遺傳學(Genetics


科研項目:

國家重點研發計劃《中國女性早絕經風險預測及臨床應用研究》(項目編號:2022YFC2703800),研究骨幹

國家重點研發計劃《重大出生缺陷中基因突變致病性的係統識別及其非經典致病機製解析》(項目編號2021YFC2701101),研究骨幹


獲獎情況:

2020年指導4位本科生組隊參加全國大學生生物競賽,獲得上海賽區二等獎,全國三等獎。2019年榮獲全國高校生命科學類微課教學比賽三等獎。


代表性論文和論著:

  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


XML 地圖 | Sitemap 地圖