假肥大型肌营养不良症Dystrophin基因重复及点突变的修复研究
81870902
2018
H0901.神经系统发育与代谢异常
王柠
面上项目
教授
福建医科大学
56万元
假肥大型肌营养不良;重复突变;Dystrophin基因;基因编辑;点突变
2019-01-01到2022-12-31
- 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 | Mini-dCas13X-mediated RNA editing restores dystrophin expression in a humanized mouse model of Duchenne muscular dystrophy | 期刊论文 | Li Guoling;Jin Ming;Li Zhifang;Xiao Qingquan;Lin Jiajia;Yang Dong;Liu Yuanhua;Wang Xing;Xie Long;Ying Wenqin;Wang Haoqiang;Zuo Erwei;Shi Linyu;Wang Ning;Chen Wanjin;Xu Chunlong;Yang Hui |
| 2 | Establishment of a human iPSC line XMDYYYi001-A from a patient with Becker muscular dystrophy harboring duplications of exons 2-19 in dystrophin gene | 期刊论文 | Wang Danni;Lin Jiajia;Jin Ming;Wang Ning |
| 3 | Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study | 期刊论文 | Zhiqiang Wang;Liangliang Qiu;Minting Lin;Long Chen;Fuze Zheng;Lin Lin;Feng Lin;Zhixian Ye;Xiaodan Lin;Junjie He;Lili Wang;Xin Lin;Qifang He;Wanjin Chen;Yi Lin;Ying Fu;Ning Wang |
| 4 | Generation and characterization of an induced pluripotent stem cell line (FJMUNi001-A) from a patient with Duchenne muscular dystrophy carrying c.4518+512T>A variant in the DMD gene | 期刊论文 | Ming Jin;Danni Wang;Guoling Li;Jiajia Lin;Xiang Lin;Ning Wang |
| 5 | CRISPR/Cas9-based genome editing for the modification of multiple duplications that cause Duchenne muscular dystrophy | 期刊论文 | Dan-Ni Wang;Zhi-Qiang Wang;Ming Jin;Min-Ting Lin;Ning Wang |
| 6 | Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease | 期刊论文 | He Jin;Liu Xiao-Xuan;Ma Ming-Ming;Lin Jing-Jing;Fu Jun;Chen Yi-Kun;Xu Guo-Rong;Xu Liu-Qing;Fu Zhi-Fei;Xu Dan;Chen Wen-Feng;Cao Chun-Yan;Shi Yan;Zeng Yi-Heng;Zhang Jing;Chen Xiao-Chun;Zhang Ru-Xu;Wang Ning;Kennerson Marina;Fan Dong-Sheng;Chen Wan-Jin |
| 7 | Cryptic exon activation causes dystrophinopathy in two Chinese families | 期刊论文 | Ming Jin;Jin-Jing Li;Guo-Rong Xu;Ning Wang;Zhi-Qiang Wang |
| 8 | Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation | 期刊论文 | Kang Yang;Yi-Heng Zeng;Yu-Sen Qiu;Feng Lin;Hai-Zhu Chen;Ming Jin;Long Chen;Fu-Ze Zheng;Yuan-Liang Ding;Chun-Yan Cao;Min-Ting Lin;Wan-Jin Chen;Zhi-Qiang Wang;Ning Wang |
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