TBX6基因变异致人类多系统畸形及其表型差异的剂量机理
31771396
2017
C0604.表型、行为与疾病的遗传学基础
张锋
面上项目
教授
复旦大学
70万元
剂量效应;单基因疾病;TBX6;汉族;16p11.2微缺失
2018-01-01到2021-12-31
- 中英文摘要
- 结题摘要
- 结题报告
- 项目成果
- 项目参与人
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| 序号 | 标题 | 类型 | 作者 |
|---|---|---|---|
| 1 | 全国妇幼健康科学技术奖自然科学一等奖《先天性脊柱畸形重要致病基因的发现及机理研究》 | 奖励 | 吴南;张锋;邱贵兴;吴志宏;仉建国;王以朋;沈建雄;陈晓丽;刘嘉琦;刘森;牛宇辰 |
| 2 | Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) | 期刊论文 | Zhao Sen;Zhang Yuanqiang;Chen Weisheng;Li Weiyu;Wang Shengru;Wang Lianlei;Zhao Yanxue;Lin Mao;Ye Yongyu;Lin Jiachen;Zheng Yu;Liu Jiaqi;Zhao Hengqiang;Yan Zihui;Yang Yongxin;Huang Yingzhao;Lin Guanfeng;Chen Zefu;Zhang Zhen;Liu Sen;Jin Lichao;Wang Zhaoyang;Chen Jingdan;Niu Yuchen;Li Xiaoxin;Wu Yong;Wang Yipeng;Du Renqian;Gao Na;Zhao Hong;Yang Ying;Liu Ying;Tian Ye;Li Wenli;Zhao Yu... |
| 3 | Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice | 期刊论文 | Ren Xiaojun;Yang Nan;Wu Nan;Xu Ximing;Chen Weisheng;Zhang Ling;Li Yingping;Du Ren-Qian;Dong Shuangshuang;Zhao Sen;Chen Shuxia;Jiang Li-Ping;Wang Lianlei;Zhang Jianguo;Wu Zhihong;Jin Li;Qiu Guixing;Lupski James R.;Shi Jiangang;Zhang Feng;Liu Pengfei |
| 4 | Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Mullerian anomalies | 期刊论文 | Wang Lingbo;Zhang Ying;Fu Xiaoyi;Dong Shuangshuang;Tang Shuyan;Zhang Ning;Song Chengcheng;Yang Nan;Zhang Lin;Wang Hongyan;Shi Huijuan;Jin Li;Zhang Feng;Li Jinsong;Hua Keqin |
| 5 | TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model | 期刊论文 | Liu Jiaqi;Wu Nan;Yang Nan;Takeda Kazuki;Chen Weisheng;Li Weiyu;Du Renqian;Sen Liu;Zhou Yangzhong;Zhang Ling;Liu Zhenlei;Zuo Yuzhi;Zhao Sen;Blank Robert;Pehlivan Davut;Dong Shuangshuang;Zhang Jianguo;Shen Jianxiong;Si Nuo;Wang Yipeng;Liu Gang;Li Shugang;Zhao Yanxue;Zhao Hong;Chen Yixin;Zhao Yu;Song Xiaofei;Hu Jianhua;Lin Mao;Tian Ye;Yuan Bo;Yu Keyi;Niu Yuchen;Yu Bin;Li Xiaoxin;Chen Jia... |
| 6 | 第十五届中国青年科技奖 | 奖励 | 张锋 |
| 7 | Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome | 期刊论文 | Yang Nan;Wu Nan;Dong Shuangshuang;Zhang Ling;Zhao Yanxue;Chen Weisheng;Du Renqian;Song Chengcheng;Ren Xiaojun;Liu Jiaqi;Pehlivan Davut;Liu Zhenlei;Rao Jia;Wang Chunyan;Zhao Sen;Breman Amy M.;Xue Huadan;Sun Hao;Shen Jianxiong;Zhang Shuyang;Posey Jennifer E.;Xu Hong;Jin Li;Zhang Jianguo;Liu Pengfei;Sanna-Cherchi Simone;Qiu Guixing;Wu Zhihong;Lupski James R.;Zhang Feng |
| 8 | TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice | 期刊论文 | Yang Nan;Wu Nan;Zhang Ling;Zhao Yanxue;Liu Jiaqi;Liang Xiangyu;Ren Xiaojun;Li Weiyu;Chen Weisheng;Dong Shuangshuang;Zhao Sen;Lin Jiachen;Xiang Hang;Xue Huadan;Chen Lu;Sun Hao;Zhang Jianguo;Shi Jiangang;Zhang Shuyang;Lu Daru;Wu Xiaohui;Jin Li;Ding Jiandong;Qiu Guixing;Wu Zhihong;Lupski James R.;Zhang Feng |
| 9 | Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract | 期刊论文 | Dong Shuangshuang;Wang Chunyan;Li Xueping;Shen Qian;Fu Xiaoyi;Wu Mingyan;Song Chengcheng;Yang Nan;Wu Yanhua;Wang Hongyan;Jin Li;Xu Hong;Zhang Feng |
| 10 | 教育部自然科学奖一等奖《基因组拷贝数变异的突变机理与致病机制研究》 | 奖励 | 张锋;邱贵兴;金力;吴志宏;徐书华;吴南;陈晓丽 |
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