基于SMN2基因启动子区激活的脊髓性肌萎缩症干预研究
81771230
2017
H0901.神经系统发育与代谢异常
陈万金
面上项目
教授
福建医科大学
54万元
干预;运动神经元生存基因;脊髓性肌萎缩症;运动神经元;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 | Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China | 期刊论文 | Dong En-Lin;Wang Chong;Wu Shuang;Lu Ying-Qian;Lin Xiao-Hong;Su Hui-Zhen;Zhao Miao;He Jin;Ma Li-Xiang;Wang Ning;Chen Wan-Jin;Lin Xiang |
| 2 | Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia | 期刊论文 | Lin Xiang;Su Hui-Zhen;Dong En-Lin;Lin Xiao-Hong;Zhao Miao;Yang Can;Wang Chong;Wang Jie;Chen Yi-Jun;Yu Hongjie;Xu Jianfeng;Ma Li-Xiang;Xiong Zhi-Qi;Wang Ning;Chen Wan-Jin |
| 3 | Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction | 期刊论文 | Hong Jingmei;Zhao Miao;He Jin;Huang Xuejing;Zhao Zhiyuan;Chen Wanjin;Wang Ning;Li Jinjing |
| 4 | Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia | 期刊论文 | Lai Lu-Lu;Chen Yi-Jun;Li Yun-Lu;Lin Xiao-Hong;Wang Meng-Wen;Dong En-Lin;Wang Ning;Chen Wan-Jin;Lin Xiang |
| 5 | Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76) | 期刊论文 | Lu Ying-qian;Dong En-lin;Yang Wei-qi;Lai Lu-lu;Lin Xiao-hong;Ma Li-xiang;Chen Wan-jin;Wang Ning;Lin Xiang |
| 6 | c.835-5T > G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy | 期刊论文 | Wu Shuang;Li Yun-Lu;Cheng Ning-Yi;Wang Chong;Dong En-Lin;Lu Ying-Qian;Li Jin-Jing;Guo Xin-Xin;Lin Xiang;Lai Lu-Lu;Liu Zhi-Wei;Wang Ning;Chen Wan-Jin |
| 7 | Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia | 期刊论文 | Zhao Miao;Chen Yi-Jun;Wang Meng-Wen;Lin Xiao-Hong;Dong En-Lin;Chen Wan-Jin;Wang Ning;Lin Xiang |
| 8 | Base editing-mediated splicing correction therapy for spinal muscular atrophy | 期刊论文 | Xiang Lin;Haizhu Chen;Ying-Qian Lu;Shunyan Hong;Xinde Hu;Yanxia Gao;Lu-Lu Lai;Jin-Jing Li;Zishuai Wang;Wenqin Ying;Lixiang Ma;Ning Wang;Erwei Zuo;Hui Yang;Wan-Jin Chen |
| 9 | Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies | 期刊论文 | Zou Xiao-Huan;Guo Xin-Xin;Su Hui-Zhen;Wang Chong;Dong En-Lin;Wang Ning;Chen Wan-Jin;Zhang Qi-Jie |
| 10 | Disruption of splicing-regulatory elements using CRISPR/Cas9 rescues spinal muscular atrophy in human iPSCs and mice | 期刊论文 | Jin-Jing Li;Xiang Lin;Cheng Tang;Ying-Qian Lu;Xinde Hu;Erwei Zuo;He Li;Wenqin Ying;Yidi Sun;Lu-Lu Lai;Hai-Zhu Chen;Xin-Xin Guo;Qi-Jie Zhang;Shuang Wu;Changyang Zhou;Xiaowen Shen;Qifang Wang;Min-Ting Lin;Li-Xiang Ma;Ning Wang;Adrian R. Krainer;Linyu Shi;Hui Yang;Wan-Jin Chen |
| 11 | Rethinking monogenic neurological diseases | 期刊论文 | Wan-Jin Chen;Xuewen Cheng;Ying Fu;Miao Zhao;Jennifer McGinley;Ana Westenberger;Zhi-Qi Xiong |
| 12 | Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification | 期刊论文 | Xiang-Ping Yao;Xuewen Cheng;Chong Wang;Miao Zhao;Xin-Xin Guo;Hui-Zhen Su;Lu-Lu Lai;Xiao-Huan Zou;Xue-Jiao Chen;Yuying Zhao;En-Lin Dong;Ying-Qian Lu;Shuang Wu;Xiaojuan Li;Gaofeng Fan;Hongjie Yu;Jianfeng Xu;Ning Wang;Zhi-Qi Xiong;Wan-Jin Chen |
| 13 | Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia | 期刊论文 | Chen Yi-Jun;Wang Meng-Wen;Dong En-Lin;Lin Xiao-Hong;Wang Ning;Zhang Zai-Qiang;Lin Xiang;Chen Wan-Jin |
| 14 | Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification | 期刊论文 | Guo Xin-Xin;Zou Xiao-Huan;Wang Chong;Yao Xiang-Ping;Su Hui-Zhen;Lai Lu-Lu;Chen Hai-Ting;Lai Jing-Hui;Liu Yao-Bin;Chen Dong-Ping;Deng Yu-Chun;Lin Pan;Lin Hua-Song;Hong Bing-Cong;Yao Qing-Yang;Chen Xue-Jiao;Huang Dan-Qin;Fu Hong-Xia;Peng Ji-Dong;Niu Yan-Fang;Zhao Yu-Ying;Zhu Xiao-Qun;Lu Xiao-Pei;Lin Hai-Liang;Li Yong-Kun;Liu Chang-Yun;Huang Gen-Bin;Wang Ning;Chen Wan-Jin |
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