CEP78基因突变引起视网膜变性的遗传机制及干预研究
81700877
2017
H1305.视网膜、脉络膜及玻璃体相关疾病
陈雪
青年科学基金项目
副教授
南京医科大学
22万元
遗传性视网膜变性;CRISPER/Cas9基因编辑;基因治疗;高通量二代测序;CEP78基因
2018-01-01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 | 致盲性视网膜变性疾病的机制研究与干预新策略 | 奖励 | 赵晨;颜标;陈雪;章淑杰;秦兵;蒋超 |
| 2 | 遗传诊断和胚胎植入前遗传诊断在防治儿童遗传眼病中的重要作用 | 期刊论文 | 陈雪;赵晨 |
| 3 | LINC00167 Regulates RPE Differentiation by Targeting the miR-203a-3p/SOCS3 Axis | 期刊论文 | Xue Chen;Ruxu Sun;Daidi Yang;Chao Jiang;Qinghuai Liu |
| 4 | c-Jun-mediated microRNA-302d-3p induces RPE dedifferentiation by targeting p21Waf1/Cip1 | 期刊论文 | Chao Jiang;Ping Xie;Ruxu Sun;Xiantao Sun;Guohua Liu;Sijia Ding;Meidong Zhu;Biao Yan;Qinghuai Liu;Xue Chen;Chen Zhao |
| 5 | Co-existence of novel PDE6A mutations and a recurrent RPGR mutation: a potential explanation for phenotypic diversity in female RPGR mutation carriers | 期刊论文 | Xue Chen;Xunlun Sheng;Guohua Liu;Yani Liu;Huiping Li;Ping Xie;Qinghuai Liu;Biao Yan;Chen Zhao |
| 6 | LncRNA ZNF503-AS1制备诊断视网膜变性疾病的试剂盒中的应用 | 专利 | 赵晨;陈雪;秦兵;颜标;蒋超;卢奕;孙兴怀;徐格致 |
| 7 | IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration | 期刊论文 | Xue Chen;Xiaoguang Wang;Chao Jiang;Min Xu;Yang Liu;Rui Qi;Xiaolong Qi;Xiantao Sun;Ping Xie;Qinghuai Liu;Biao Yan;Xunlun Sheng;Chen Zhao |
| 8 | Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees | 期刊论文 | Xue Chen;Xunlun Sheng;Yani Liu;Zili Li;Xiantao Sun;Chao Jiang;Rui Qi;Shiqin Yuan;Xuhui Wang;Ge Zhou;Yanyan Zhen;Ping Xie;Qinghuai Liu;Biao Yan;Chen Zhao |
| 9 | Circular Noncoding RNA NR3C1 Acts as a miR-382-5p Sponge to Protect RPE Functions via Regulating PTEN/AKT/mTOR Signaling Pathway | 期刊论文 | Xue Chen;Chao Jiang;Ruxu Sun;Daidi Yang;Qinghuai Liu |
| 10 | 一种遗传性RP的致病突变基因CRB2 p.R1249G及其应用 | 专利 | 赵晨;陈雪;颜标;刘国华;刘庆淮 |
| 11 | Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy | 期刊论文 | Yuwei Wang;Min Xu;Xiaoxing Liu;Yongheng Huang;Yao Zhou;Qinghuai Liu;Xue Chen;Chen Zhao;Min Wang |
| 12 | 致盲性视网膜变性疾病的机制研究与干预新策略 | 奖励 | 赵晨;颜标;李旭日;蒋沁;陈雪;章淑杰;蒋超;李秀苗 |
| 13 | CRB2 mutation causes autosomal recessive retinitis pigmentosa | 期刊论文 | Xue Chen;Chao Jiang;Daidi Yang;Ruxu Sun;Min Wang;Hong Sun;Min Xu;Luyin Zhou;Mingkang Chen;Ping Xie;Biao Yan;Qinghuai Liu;Chen Zhao |
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