全外显子组测序探寻脊柱肋骨发育不全致病基因的研究
81472045
2014
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
100万元
外显子组测序;脊柱肋骨发育不全;致病基因
2015-01-01到2018-12-31
- 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 | Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism | 期刊论文 | Nan Wu;Qiankun Zhu;Gang Liu;Yangzhong Zhou;Sen Liu;Jun Chen;Jiaqi Liu;Yuzhi Zuo;Zhenlei Liu;Weisheng Chen;Yixin Chen;Jia Chen;Mao Lin;Yanxue Zhao;Yang Yang;Shensgru Wang;Xu Yang;Yufen Ma;Jian Wang;Xiaoli Chen;Jianguo Zhang;Jianxiong Shen;Zhihong Wu;Guixing Qiu |
| 2 | Genetic Polymorphism of LBX1 Is Associated With Adolescent Idiopathic Scoliosis in Northern Chinese Han Population | 期刊论文 | Liu Sen;Wu Nan;Zuo Yuzhi;Zhou Yangzhong;Liu Jiaqi;Liu Zhenlei;Chen Weisheng;Liu Gang;Chen Yixin;Chen Jia;Lin Mao;Zhao Yanxue;Ming Yue;Yuan Tangmi;Li Xiao;Xia Zenan;Yang Xu;Ma Yufen;Zhang Jianguo;Shen Jianxiong;Li Shugang;Wang Yipeng;Zhao Hong;Yu Keyi;Zhao Yu;Weng Xisheng;Qiu Guixing;Wu Zhihong |
| 3 | Genetic polymorphisms of GPR126 are functionally associated with PUMC classifications of adolescent idiopathic scoliosis in a Northern Han population | 期刊论文 | Liu Gang;Liu Sen;Lin Mao;Li Xiaoxin;Chen Weisheng;Zuo Yuzhi;Liu Jiaqi;Niu Yuchen;Zhao Sen;Long Bo;Wu Zhihong;Wu Nan;Qiu Guixing |
| 4 | 教育部高等学校科学研究优秀成果自然科学一等奖 | 奖励 | 张锋;邱贵兴;金力;吴志宏;徐书华;吴南;陈晓丽 |
| 5 | The genetic landscape and clinical implications of vertebral anomalies in VACTERL association | 期刊论文 | Chen Yixin;Liu Zhenlei;Chen Jia;Zuo Yuzhi;Liu Sen;Chen Weisheng;Liu Gang;Qiu Guixing;Giampietro Philip F;Wu Nan;Wu Zhihong |
| 6 | Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia | 期刊论文 | Jia Chen;Jiaqi Liu;Yangzhong Zhou;Nan Wu;Sen Liu;Gang Liu;Yuzhi Zuo;Zhihong Wu;Guixing Qiu |
| 7 | Progress and perspective of TBX6 gene in congenital vertebral malformations | 期刊论文 | Chen Weisheng;Liu Jiaqi;Yuan Dongtang;Zuo Yuzhi;Liu Zhenlei;Liu Sen;Zhu Qiankun;Qiu Guixing;Huang Shishu;Giampietro Philip F.;Zhang Feng;Wu Nan;Wu Zhihong |
| 8 | Filamin B: The next hotspot in skeletal research? | 期刊论文 | Xu Qiming;Wu Nan;Cui Lijia;Wu Zhihong;Qiu Guixing |
| 9 | Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings | 期刊论文 | Xu Qiming;Wu Nan;Cui Lijia;Lin Mao;Kumar Thirumal D.;Doss George Priya C.;Wu Zhihong;Shen Jianxiong;Song Xiangjian;Qiu Guixing |
| 10 | Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review | 期刊论文 | Liu Zhenlei;Liu Jiaqi;Liu Gang;Cao Wenjian;Liu Sen;Chen Yixin;Zuo Yuzhi;Chen Weisheng;Chen Jun;Zhang Yu;Huang Shishu;Qiu Guixing;Giampietro Philip F;Zhang Feng;Wu Zhihong;Wu Nan |
| 11 | CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling | 期刊论文 | Liu J.;Zhou Y.;Qi X.;Chen J.;Chen W.;Qiu G.;Wu Z.;Wu N. |
| 12 | 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 Jiaqi;Zhou Yangzhong;Liu Sen;Song Xiaofei;Yang Xin-Zhuang;Fan Yanhui;Chen Weisheng;Akdemir Zeynep Coban;Yan Zihui;Zuo Yuzhi;Du Renqian;Liu Zhenlei;Yuan Bo;Zhao Sen;Liu Gang;Chen Yixin;Zhao Yanxue;Lin Mao;Zhu Qiankun;Niu Yuchen;Liu Pengfei;Ikegawa Shiro;Song You-Qiang;Posey Jennifer E.;Qiu Guixing;Zhang Feng;Wu Zhihong;Lupski James R.;Wu Nan |
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