应用蛋白质组学技术探索TBX6在先天性脊柱侧凸中的作用机制
81772301
2017
H0601.运动系统结构、功能和发育异常
邱贵兴
面上项目
教授
中国医学科学院北京协和医院
58万元
先天性脊柱侧凸;蛋白质组;TBX6;生物标志物;生理机制
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 | 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 |
| 2 | The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease | 期刊论文 | Liu;J;Zhou;Y;Liu;S;Song;X;Yang;X. Z;Fan;Y;Chen;W;Akdemir;Z. C;Yan;Z;Zuo;Y;Du;R;Liu;Z;Yuan;B;Zhao;S;Liu;G;Chen;Y;Zhao;Y;Lin;M;Zhu;Q;Niu;Y;Liu;P;Ikegawa;S;Song;Y. Q;Posey;J. E;Qiu;G;Zhang;F;Wu;Z;Lupski;J. R;Wu;N. |
| 3 | 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 |
| 4 | Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis | 期刊论文 | Liu Gang;Wang Lianlei;Wang Xinyu;Yan Zihui;Yang Xinzhuang;Lin Mao;Liu Sen;Zuo Yuzhi;Niu Yuchen;Zhao Sen;Zhao Yanxue;Zhang Jianguo;Shen Jianxiong;Wang Yipeng;Qiu Guixing;Wu Zhihong;Wu Nan |
| 5 | Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis | 期刊论文 | Chen Z;Yan Z;Yu C;Liu j;Zhang Y;Zhao S;Lin J;Zhang Y;Wang L;Lin M;Huang Y;Li X;Niu Y;Wang S;Wu Z;DISCO;Qiu G;Zhang TJ;Wu N |
| 6 | Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants | 期刊论文 | Huang Y;Tian W;Sun L;Guo Y;Zhao S;Lin M;Dong X;Zhong W;Yin Y;Chen Z;Zhang N;Zhang Y;Wang L;Lin J;Yan Z;Yang X;Zhao J;Qiu G;Zhang J;Wu Z;Wu N |
| 7 | 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 |
| 8 | Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome | 期刊论文 | Chen;Zhao;Jolly;Wang;Pan;N;S;A;L;H;Yuan;J;Chen;S;Koch;A;Ma;C;Tian;W;Jia;Z;Kang;J;Zhao;L;Qin;C;Fan;X;Rall;K;Coban-Akdemir;Z;Chen;Z;Jhangiani;S;Liang;Z;Niu;Y;Li;X;Yan;Z;Wu;Y;Dong;S;Song;C;Qiu;G;Zhang;S;Liu;P;Posey;J. E;Zhang;F;Luo;G;Wu;Z;Su;J;Zhang;J;Chen;E. Y;Rouskas;K;Glentis;S;Bacopoulou;F;Deligeoroglou;E;Chrousos;G;Lyonnet;S;Polak;M;Rosenberg;C;Dingeldein... |
| 9 | De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities | 期刊论文 | Okur;V;Chen;Z;Vossaert;L;Peacock;S;Rosenfeld;J;Zhao;L;Du;H;Calamaro;E;Gerard;A;Zhao;S;Kelsay;J;Lahr;A;Mighton;C;Porter;H. M;Siemon;A;Silver;J;Svihovec;S;Fong;C. T;Grant;C. L;Lerner-Ellis;J;Manickam;K;Madan-Khetarpal;S;McCandless;S. E;Morel;C. F;Schaefer;G. B;Berry-Kravis;E. M;Gates;R;Gomez-Ospina;N;Qiu;G;Zhang;T. J;Wu;Z;Meng;L;Liu;P;Scott;D. A;Lupski;J. R;Eng;C. M;Wu;N... |
| 10 | Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism | 期刊论文 | Zhu Q;Wu N;Liu G;Zhou Y;Liu S;Chen J;Liu J;Zuo Y;Liu Z;Chen W;Chen Y;Chen J;Lin M;Zhao Y;Yang Y;Wang S;Yang X;Ma Y;Wang J;Chen X;Zhang J;Shen J;Wu Z;Qiu G. |
| 11 | 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 |
| 12 | KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations | 期刊论文 | Al Dhaheri Noura;Wu Nan;Zhao Sen;Wu Zhihong;Blank Robert D.;Zhang Jianguo;Raggio Cathy;Halanski Matthew;Shen Jianxiong;Noonan Ken;Qiu Guixing;Nemeth Blaise;Sund Sarah;Dunwoodie Sally L.;Chapman Gavin;Glurich Ingrid;Steiner Robert D.;Wohler Elizabeth;Martin Renan;Sobreira Nara Lygia;Giampietro Philip F. |
| 13 | Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia | 期刊论文 | Chen Jia;Liu Jiaqi;Zhou Yangzhong;Liu Sen;Liu Gang;Zuo Yuzhi;Wu Zhihong;Wu Nan;Qiu Guixing |
| 14 | Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) | 期刊论文 | Sen Zhao;Yuanqiang Zhang;Weisheng Chen;Weiyu Li;Shengru Wang;Lianlei Wang;Yanxue Zhao;Mao Lin;Yongyu Ye;Jiachen Lin;Yu Zheng;Jiaqi Liu;Hengqiang Zhao;Zihui Yan;Yongxin Yang;Yingzhao Huang;Guanfeng Lin;Zefu Chen;Zhen Zhang;Sen Liu;Lichao Jin;Zhaoyang Wang;Jingdan Chen;Yuchen Niu;Xiaoxin Li;Yong Wu;Yipeng Wang;Renqian Du;Na Gao;Hong Zhao;Ying Yang;Ying Liu;Ye Tian;Wenli Li;Yu Zhao... |
| 15 | 一种检测染色体16p11.2微缺失的产品 | 专利 | 吴南;吴志宏;邱贵兴 |
| 16 | Advances in clinical genetics and genomics | 期刊论文 | Zhao Sen;Cheng Xi;Wen Wen;Qiu Guixing;Zhang Terry Jianguo;Wu Zhihong;Wu Nan |
| 17 | The Mutational Landscape of PTK7 in Congenital Scoliosis and Adolescent Idiopathic Scoliosis | 期刊论文 | Su Z;Yang Y;Wang S;Zhao S;Zhao H;Li X;Niu Y;Deciphering Disorders Involving Scoliosis;Group C. Omorbidities Disco Study;Qiu G;Wu Z;Wu N;Zhang T. J. |
| 18 | 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... |
| 19 | Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia | 期刊论文 | Wu;N;Zhang;Z;Zhou;X;Zhao;H;Ming;Y;Wu;X;Zhang;X;Yang;X. Z;Zhou;M;Bao;H;Chen;W;Wu;Y;Liu;S;Wang;H;Niu;Y;Li;Y;Zheng;Y;Shao;Y;Gao;N;Yang;Y;Liu;Y;Li;W;Liu;J;Zhang;N;Yang;X;Xu;Y;Li;M;Sun;Y;Su;J;Zhang;J;Xia;W;Qiu;G;Liu;Y;Liu;J;Wu;Z. |
| 20 | 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 J;Wu N;Yang N;Takeda K;Chen W;Li W;Du R;Liu S;Zhou Y;Zhang L;Liu Z;Zuo Y;Zhao S;Blank R;Pehlivan D;Dong S;Zhang J;Shen J;Si N;Wang Y;Liu G;Li S;Zhao Y;Zhao H;Chen Y;Zhao Y;Song X;Hu J;Lin M;Tian Y;Yuan B;Yu K;Niu Y;Yu B;Li X;Chen J;Yan Z;Zhu Q;Meng X;Chen X;Su J;Zhao X;Wang X;Ming Y;Li X;Raggio C. L;Zhang B;Weng X;Zhang S;Zhang X;Watanabe K;Matsumoto M... |
| 21 | 一种测序数据突变分析系统 | 专利 | 吴南;吴志宏;邱贵兴;赵森;吴勇;闫子慧;杨欣壮 |
| 22 | 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 |
| 23 | Genetic polymorphisms of GPR126 are functionally associated with PUMC classifications of adolescent idiopathic scoliosis in a Northern Han population | 期刊论文 | Liu G;Liu S;Lin M;Li X;Chen W;Zuo Y;Liu J;Niu Y;Zhao S;Long B;Wu Z;Wu N;Qiu G. |
| 24 | TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease | 期刊论文 | Chen W;Lin J;Wang L;Li X;Zhao S;Liu J;Akdemir Z. C;Zhao Y;Du R;Ye Y;Song X;Zhang Y;Yan Z;Yang X;Lin M;Shen J;Wang S;Gao N;Yang Y;Liu Y;Li W;Liu J;Zhang N;Yang X;Xu Y;Zhang J;Delgado M. R;Posey J. E;Qiu G;Rios J. J;Liu P;Wise C. A;Zhang F;Wu Z;Lupski J. R;Wu N. |
| 25 | 脊柱畸形重要致病基因的发现及机理研究 | 奖励 | 吴南;张锋;吴志宏;邱贵兴;仉建国;王以朋;沈建雄;陈晓丽;刘嘉琦;刘森;牛宇辰;杨欣壮 |
| 26 | Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature | 期刊论文 | Fan Xin;Zhao Sen;Yu Chenxi;Wu Di;Yan Zihui;Fan Lijun;Song Yanning;Wang Yi;Li Chuan;Ming Yue;Gui Baoheng;Niu Yuchen;Li Xiaoxin;Yang Xinzhuang;Luo Shiyu;Zhang Qiang;Zhao Xiuli;Pan Hui;Li Mei;Xia Weibo;Qiu Guixing;Liu Pengfei;Zhang Shuyang;Zhang Jianguo;Wu Zhihong;Lupski James R.;Posey Jennifer E.;Chen Shaoke;Gong Chunxiu;Wu Nan |
| 27 | Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study | 期刊论文 | Wang Lianlei;Zhang Yuanqiang;Zhao Sen;Dong Xiying;Li Xiaoxin;You Yi;Yan Zihui;Liu Gang;Tong Bingdu;Chen Yaping;Yang Xu;Tian Yuan;Gao Na;Wang Yipeng;Wu Zhihong;Qiu Guixing;Zhang Jianguo;Wu Nan |
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