宋书娟

邮箱：shujuansong@bjmu.edu.cn

联系地址：新科技楼3层310B室

个人简介

宋书娟，副教授,硕士生导师，学系副主任。2000年至今在北京大学医学部医学遗传学系工作，2006年在北京大学医学部获得博士学位，2008年任副教授。2006年5-8月于美国霍普金斯大学做访问学者，2017年10月至2019年10月于美国哥伦比亚大学做访问学者。主要从事遗传病致病机制和细胞铁死亡调控机制的研究，以第一和通讯作者在Genes & Development、Genetics in Medicine、Human Genetics、Journal of Dental Research等杂志上发表SCI论文，主持和参加过国家自然科学基金、科技部973、十二五和十三五国家科技支撑计划等项目课题。北京罕见病学会儿童神经肌肉病组委员。人民卫生出版社《医学遗传学》教材编委、《中国优生优育》杂志编委、《中华医学遗传学杂志》和《遗传》杂志审稿人。

主要研究方向

细胞铁死亡的调控机制及其在神经退行性疾病发病中的作用

代表性研究成果

(1) Song S^#, Su Z^#, Kon N, Chu B, Li H, Jiang X, Luo J, Stockwell BR, Gu W^*. ALOX5-mediated ferroptosis acts as a distinct cell death pathway upon oxidative stress in Huntington's disease. Genes Dev. 2023;37(5-6):204-217.

(2) Chu B, Kon N, Chen D, Li T, Liu T, Jiang L, Song S, Tavana O, Gu W^*. ALOX12 is required for p53-mediated tumor suppression through a distinct ferroptosis pathway, Nat Cell Biol. 2019; 21(5): 579-591.

(3) Song S^#*, Zhao R, He H, Zhang J, Feng H^*, Lin L.WNT10A variants are associated with non-syndromic tooth agenesis in the general population. Hum Genet. 2014; 133(1): 117-124.

(4) Liu X; Li Q; Gao Y; Song S^*; Hua H^*; Mutational analysis in familial and sporadic patients with white sponge naevus. Br J Dermatol. 2011; 165(2): 448-451.

(5)Zhang J, Han D,Song S^*, Wang Y, Zhao H, Pan S, Bai B, Feng H^*. Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations. Eur J Med Genet. 2011; 54:377-382.  

(6)Wang WH^#, Song SJ^#, Li LF, Zhang L, Yang SM, Zhang Q, Wang YY, Sun TT.Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type. Eur J Dermatol. 2010; 20: 567-572.

(7)Wen J^#, Chen Y^#, Song S^#, Ding J,Gao Y, Hu Q, Feng R, Liu Y, Ren G, Zhang C, Hong T, Gao X and Li L. PAX6 regulates glucose metabolism via PC1/3-mediated proinsulin processing. Diabetologia. 2009; 52: 504-513.

(8)Zhou C^#, Song S^#, Zhang J. A novel 3017 bp deletion mutation in the KIND1 gene in a Chinese family with Kindler syndrome. Br J Dermatol. 2009; 160: 1119-1122.

(9)Song S^#, Han D^#, Qu H, Gong Y, Wu H, Zhang X, Zhong N, Feng H. EDA Gene Mutations Underlie Non-syndromic Oligodontia. J Dent Res. 2009; 88(2): 126-131.

(10)Han D, Gong Y, Wu H, Zhang X, Yan M, Wang X, Qu H, Feng H^*, Song S^*. Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. Eur J Med Genet. 2008; 51(6):536-546.

(11)Song S, Shen C, Song G, Mao X, Yan G,Wang X,Yan M, Zhong N. A novel 578insG mutation in the loricrin gene correlated with a heterogeneous phenotype of loricrin keratoderma. Br J Dermatol. 2008; 159: 714-719.

(12)Song S, Zhang Y,Chen B, Wang M, Yan M, Zou J, Zhang Y, Huang Y and  Zhong N. Mutation Frequency for CMT1 in the Chinese is Similar to that in the Global Ethnic Patients. Genet Med. 2006;8(8):532-535.