CSDE1基因组转录后调控及其在神经发育和孤独症发生中的作用机制研究
31671114
2016
C0903.神经系统结构与功能及异常
郭辉
面上项目
研究员
中南大学
67万元
孤独症;条件敲除小鼠;神经发育;CSDE1;RNA结合蛋白
2017-01-01到2020-12-31
- 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 | Excess of RALGAPB de novo variants in neurodevelopmental disorders | 期刊论文 | Shah Abid Ali;Zhang Ge;Li Kuokuo;Liu Chenbin;Kanhar Ashafaque Ahmad;Wang Meng;Quan Yingting;Wu Huidan;Shen Lu;Khan Rizwan;Chen Guodong;Ou Jianjun;Hu Zhengmao;Xia Kun;Guo Hui |
| 2 | Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders | 期刊论文 | Li Jinchen;Wang Lin;Guo Hui;Shi Leisheng;Zhang Kun;Tang Meina;Hu Shanshan;Dong Shanshan;Liu Yanling;Wang Tianyun;Yu Ping;He Xin;Hu Zhengmao;Zhao Jinping;Liu Chunyu;Sun Zhong Sheng;Xia Kun |
| 3 | Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission | 期刊论文 | Guo Hui;Li Ying;Shen Lu;Wang Tianyun;Jia Xiangbin;Liu Lijuan;Xu Tao;Ou Mengzhu;Hoekzema Kendra;Wu Huidan;Gillentine Madelyn A;Liu Cenying;Ni Hailun;Peng Pengwei;Zhao Rongjuan;Zhang Yu;Phornphutkul Chanika;Stegmann Alexander P A;Prada Carlos E;Hopkin Robert J;Shieh Joseph T;McWalter Kirsty;Monaghan Kristin G;van Hasselt Peter M;van Gassen Koen;Bai Ting... |
| 4 | Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders. | 期刊论文 | Xu Xingxing;Li Chuanyin;Gao Xiaobo;Xia Kun;Guo Hui;Li Yali;Hao Zijian;Zhang Lei;Gao Daming;Xu Chenfan;Xu Huatai;Xiong Zhi-Qi;Qiu Zilong;Mei Ling;Xie Xiaoduo;Ruan Kangcheng;Hu Ronggui |
| 5 | 中国新锐科技人物突出成就奖 | 奖励 | 郭辉 |
| 6 | Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development | 期刊论文 | Zhao Wenjing;Tan Jieqiong;Zhu Tengfei;Ou Jianjun;Li Ying;Shen Lu;Wu Huidan;Han Lin;Liu Yanling;Jia Xiangbin;Bai Ting;Li Honghui;Ke Xiaoyan;Zhao Jingping;Zou Xiaobing;Hu Zhengmao;Guo Hui;Xia Kun |
| 7 | Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains | 期刊论文 | Geisheker Madeleine R.;Heymann Gabriel;Wang Tianyun;Coe Bradley P.;Turner Tychele N.;Stessman Holly A. F.;Hoekzema Kendra;Kvarnung Malin;Shaw Marie;Friend Kathryn;Liebelt Jan;Barnett Christopher;Thompson Elizabeth M.;Haan Eric;Guo Hui;Anderlid Britt-Marie;Nordgren Ann;Lindstrand Anna;Vandeweyer Geert;Alberti Antonino;Avola Emanuela;Vinci Mirella;Giusto Stefania;Pramparo Tiziano;Pierce Karen... |
| 8 | Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders. | 期刊论文 | Li Ying;Jia Xiangbin;Wu Huidan;Xun Guanglei;Ou Jianjun;Zhang Qiumeng;Li Honghui;Bai Ting;Hu Zhengmao;Zou Xiaobing;Xia Kun;Guo Hui |
| 9 | Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort | 期刊论文 | Guo Hui;Peng Yu;Hu Zhengmao;Li Ying;Xun Guanglei;Ou Jianjun;Sun Liangdan;Xiong Zhimin;Liu Yanling;Wang Tianyun;Chen Jingjing;Xia Lu;Bai Ting;Shen Yidong;Tian Qi;Hu Yiqiao;Shen Lu;Zhao Rongjuan;Zhang Xuejun;Zhang Fengyu;Zhao Jingping;Zou Xiaobing;Xia Kun |
| 10 | Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. | 期刊论文 | Guo Hui;Wang Tianyun;Wu Huidan;Long Min;Coe Bradley P;Li Honghui;Xun Guanglei;Ou Jianjun;Chen Biyuan;Duan Guiqin;Bai Ting;Zhao Ningxia;Shen Yidong;Li Yun;Wang Yazhe;Zhang Yu;Baker Carl;Liu Yanling;Pang Nan;Huang Lian;Han Lin;Jia Xiangbin;Liu Cenying;Ni Hailun;Yang Xinyi;Xia Lu;Chen Jingjing;Shen Lu;Li Ying;Zhao Rongjuan;Zhao Wenjing;Peng Jing;Pan Qian... |
| 11 | Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort | 期刊论文 | Wu Huidan;Li Honghui;Bai Ting;Han Lin;Ou Jianjun;Xun Guanglei;Zhang Yu;Wang Yazhe;Duan Guiqin;Zhao Ningxia;Chen Biyuan;Du Xiaogang;Yao Meiling;Zou Xiaobing;Zhao Jingping;Hu Zhengmao;Eichler Evan E;Guo Hui;Xia Kun |
| 12 | Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders | 期刊论文 | Guo Hui;Bettella Elisa;Marcogliese Paul C;Zhao Rongjuan;Andrews Jonathan C;Nowakowski Tomasz J;Gillentine Madelyn A;Hoekzema Kendra;Wang Tianyun;Wu Huidan;Jangam Sharayu;Liu Cenying;Ni Hailun;Willemsen Marjolein H;van Bon Bregje W;Rinne Tuula;Stevens Servi J C;Kleefstra Tjitske;Brunner Han G;Yntema Helger G;Long Min;Zhao Wenjing;Hu Zhengmao;Colson Cindy;Richard Nicolas... |
| 13 | Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female | 期刊论文 | Shen Lu;LIu Cenying;Gao Ming;Li Hongmei;Zhang Yaowen;Tian Qi;Ni Hailun;Peng Pengwei;Zhao Rongjuan;Hu Zhengmao;Gao Yuan;Xia Kun;Bo Qifang;Guo Hui |
| 14 | Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders | 期刊论文 | Han Lin;Chen Meilin;Wang Yazhe;Wu Huidan;Quan Yingting;Bai Ting;Li Kuokuo;Duan Guiqin;Gao Yan;Hu Zhengmao;Xia Kun;Guo Hui |
| 15 | AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders | 期刊论文 | Salpietro Vincenzo;Dixon Christine L;Guo Hui;Bello Oscar D;Vandrovcova Jana;Efthymiou Stephanie;Maroofian Reza;Heimer Gali;Burglen Lydie;Valence Stephanie;Torti Erin;Hacke Moritz;Rankin Julia;Tariq Huma;Colin Estelle;Procaccio Vincent;Striano Pasquale;Mankad Kshitij;Lieb Andreas;Chen Sharon;Pisani Laura;Bettencourt Conceicao;Mannikko Roope;Manole Andreea... |
| 16 | POGZ de novo missense variants in neuropsychiatric disorders | 期刊论文 | Zhao Wenjing;Quan Yingting;Wu Huidan;Han Lin;Bai Ting;Ma Linya;Li Bin;Xun Guanglei;Ou Jianjun;Zhao Jingping;Hu Zhengmao;Guo Hui;Xia Kun |
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