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您的检索式：作者名="Guanyi Jiao"
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| 1 | Derivation of Non-Integration Induced Pluripotent Stem Cells from Fibroblast of Severe Deafness Patients with GJB2 Mutation显示文摘在所有的连接蛋白相关的人类疾病,耳聋是一种高频率的最重要的疾病。穆均GJB2(间隙连接蛋白β2,也被称为连接蛋白26,Cx26)与非综合征性或综合性的结构rineural听力损失也占相当大的比例,在许多研究人群的先天性耳聋患者基因链接(卡斯蒂略和卡斯蒂略,2011)。例如,在235de1c GJB2突变显示约1%的频率,在东亚人群的最常见的突变(燕等人。,2003)。很多的努力已投入的研究在小鼠模型和人类GJB2基因的功能。在小鼠,GJB2广泛缺失导致胚胎致死性由于降低胎盘葡萄糖的摄取,这是没有发现在人类(高田和平野,1997;加布里埃尔等人。,1998)。在人类,GJB2基因缺陷不能使胚胎致死(.D.等人。,2002)。然而,GJB2相关听力损失的研究是许多困难阻碍,如无法获得人类耳蜗神经组织和声学,因此GJB2相关听力损失是潜在的机制仍不清楚。 | Xiaofeng Jin Rui Fu Wanwan Zhu Zhengxin Liu Tiantian Gu Guanyi Jiao Hua Yang Qi Zhou Zhiqiang Gao Xiao-Yang Zhao | 2015 | Journal of Genetics and Genomics2015，42，8： | 1 |
| 2 | Treatment of glutaric aciduria type I(GA-I)via intracerebroventricular delivery of GCDH显示文摘Glutaric aciduria type I(GA-I)is an autosomal recessive genetic disorder caused by a deficiency in glutaryl-CoA dehydrogenase(GCDH).Patients who do not receive proper treatment may die from acute encephalopathic crisis.Current treatments for GA-I include a low-lysine diet combined with oral supplementation of L-carnitine.A mouse model of Gcdh^(c.422_428del/c.422_428del)(Gcdh^(−/−))was generated in our laboratory using CRISPR/Cas9.Gcdh^(−/−)mice had significantly higher levels of glutaric acid(GA)in the plasma,liver,and brain than those in wild-type C57BL/6 mice.When given a high-protein diet(HPD)for two days,approximately 60%of Gcdh^(−/−)mice did not survive the metabolic stress.To evaluate whether GCDH gene replacement therapy could be used to provide sustained treatment for patients with GA-1,we prepared a recombinant adeno-associated virus(rAAV)carrying a human GCDH expression cassette and injected it into Gcdh^(−/−)neonates for a proof-of-concept(PoC)study.Our study demonstrated that delivering rAAV to the central nervous system(CNS),but not the peripheral system,significantly increased the survival rate under HPD exposure.Our study also demonstrated that rAAVPHP.eB mediated a higher efficiency than that of rAAV9 in increasing the survival rate.Surviving mice showed dose-dependent GCDH protein expression in the CNS and downregulation of GA levels.Our study demonstrated that AAV-based gene replacement therapy was effective for GA-I treatment and provided a feasible solution for this unmet medical need. | Lu Guo Zhikun Li Yuhuan Li Bin Qu Guanyi Jiao Chen Liang Zongbao Lu Xin-Ge Wang Cheng Huang Hongwei Du Jianmin Liang Qi Zhou Wei Li | 2022 | Fundamental Research2022，2，6： | 0 |
| 3 | lincGET不对称表达影响小鼠2-细胞胚胎细胞命运选择显示文摘文章简介一个哺乳动物个体有超过200种不同的细胞类型,而所有的细胞类型都由一个初始细胞——受精卵,不断地分裂和分化形成。在受精卵的分裂和发育过程中,第一次细胞命运的选择发生在什么时期?这一选择是如何发生的?这是生殖与发育生物学研究的一个重要的基础问题。 | 王加强 王乐韵 冯桂海 王昱凯 Yufei Li Xin Li Chao Liu Guanyi Jiao Cheng Huang Junchao Shi Tong Zhou Qi Chen Zhonghua Liu 李伟 周琪 | 2019 | 科学新闻2019，0，2： | 0 |
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