TBX6相关先天性脊柱侧凸胚胎发育模型的建立及分子机制研究
81772299
2017
H0601.运动系统结构、功能和发育异常
吴志宏
面上项目
主任医师
中国医学科学院北京协和医院
58万元
分子机制;先天性脊柱侧凸;TBX6基因;胚胎发育;小鼠模型
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 | Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis | 期刊论文 | Zefu Chen;Zihui Yan;Chenxi Yu;Jiaqi Liu;Yanbin Zhang;Sen Zhao;Jiachen Lin;Yuanqiang Zhang;Lianlei Wang;Mao Lin;Yingzhao Huang;Xiaoxin Li;Yuchen Niu;Shengru Wang;Zhihong Wu;DISCO (Deciphering disorders Involving Scoliosis;Guixing Qiu;Terry Jianguo Zhang;Nan Wu |
| 2 | Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1 | 期刊论文 | Lin Mao;Liu Zhenlei;Liu Gang;Zhao Sen;Li Chao;Chen Weisheng;Akdemir Zeynep Coban;Lin Jiachen;Song Xiaofei;Wang Shengru;Xu Qiming;Zhao Yanxue;Wang Lianlei;Zhang Yuanqiang;Yan Zihui;Liu Sen;Liu Jiaqi;Chen Yixin;Zuo Yuzhi;Yang Xu;Sun Tianshu;Yang Xin-Zhuang;Niu Yuchen;Li Xiaoxin;You Wesley;Qiu Bintao;Ding Chen;Liu Pengfei;Zhang Shuyang;Carvalho Claudia M. B.;Posey Jennifer E.;Qiu Guixing... |
| 3 | Identification of novel FBN1 variations implicated in congenital scoliosis | 期刊论文 | Lin Mao;Zhao Sen;Liu Gang;Huang Yingzhao;Yu Chenxi;Zhao Yanxue;Wang Lianlei;Zhang Yuanqiang;Yan Zihui;Wang Shengru;Liu Sen;Liu Jiaqi;Ye Yongyu;Chen Yaping;Yang Xu;Tong Bingdu;Wang Zheng;Yang Xinzhuang;Niu Yuchen;Li Xiaoxin;Wang Yipeng;Su Jianzhong;Yuan Jian;Zhao Hengqiang;Zhang Shuyang;Qiu Guixing;Ikegawa Shiro;Zhang Jianguo;Wu Zhihong;Wu Nan |
| 4 | 先天性骨骼畸形全新遗传病因的发现及机制研究 | 奖励 | 吴南;张锋;高波;仉建国;吴志宏;沈建雄;王升儒;于辰曦 |
| 5 | 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 | Nan Yang;Nan Wu;Shuangshuang Dong;Ling Zhang;Yanxue Zhao;Weisheng Chen;Renqian Du;Chengcheng Song;Xiaojun Ren;Jiaqi Liu;Davut Pehlivan;Zhenlei Liu;Jia Rao;Chunyan Wang;Sen Zhao;Amy M. Breman;Huadan Xue;Hao Sun;Jianxiong Shen;Shuyang Zhang;Jennifer E. Posey;Hong Xu;Li Jin;Jianguo Zhang;Pengfei Liu;Simone Sanna-Cherchi;Guixing Qiu;Zhihong Wu;James R. Lupski;Feng Zhang |
| 6 | 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 |
| 7 | 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... |
| 8 | Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis | 期刊论文 | Yang Y;Zhao S;Zhang Y;Wang S;Shao J;Liu B;Li Y;Yan Z;Niu Y;Li X;Wang L;Ye Y;Weng X;Wu Z;Deciphering Disorders Involving Scoliosis;study C. Omorbidities;Zhang J;Wu N. |
| 9 | A recurrent rare SOX9 variant (M469V) is associated with congenital vertebral malformatio | 期刊论文 | Nan Wu;Lianlei Wang;Jianhua Hu;Sen Zhao;Bowen Liu;Yaqi Li;Huakang Du;Yuanqiang Zhang;Xiaoxin Li;Zihui Yan;Shengru Wang;Yipeng Wang;Jianguo Zhang;Zhihong Wu;Guixing Qiu |
| 10 | 脊柱畸形重要遗传学病因的发现及推广 | 奖励 | 吴志宏;吴南;邱贵兴;张锋;张学;陈晓丽;仉建国;沈建雄;王以朋;牛宇辰;胡建华;王海;刘刚;刘森;邵佳申 |
| 11 | TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease | 期刊论文 | Chen Weisheng;Lin Jiachen;Wang Lianlei;Li Xiaoxin;Zhao Sen;Liu Jiaqi;Akdemir Zeynep C.;Zhao Yanxue;Du Renqian;Ye Yongyu;Song Xiaofei;Zhang Yuanqiang;Yan Zihui;Yang Xinzhuang;Lin Mao;Shen Jianxiong;Wang Shengru;Gao Na;Yang Ying;Liu Ying;Li Wenli;Liu Jia;Zhang Na;Yang Xu;Xu Yuan;Zhang Jianguo;Delgado Mauricio R.;Posey Jennifer E.;Qiu Guixing;Rios Jonathan J.;Liu Pengfei;Wise Carol A.;Zhang Feng... |
| 12 | 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 |
| 13 | 诊断CVM的基因突变及其应用 | 专利 | 吴南;吴志宏;邱贵兴;左宇志;张元强;赵森 |
| 14 | 先天性脊柱畸形的诊断标记 | 专利 | 吴南;吴志宏;邱贵兴;左宇志;张元强;赵森 |
| 15 | The Progress of CRISPR/Cas9-Mediated Gene Editing in Generating Mouse/Zebrafish Models of Human Skeletal Diseases | 期刊论文 | Nan Wu;Bowen Liu;Huakang Du;Sen Zhao;Yaqi Li;Xi Cheng;Shengru Wang;Jiachen Lin;Junde Zhou;Guixing Qiu;Zhihong Wu;Jianguo Zhang |
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