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Neural damage and neuroprotection with glaucoma development in aniridia.

作者信息

Cole James D, Rodriguez Carlos, Norat Pedro, Gao Jingyi, Provencio Ignacio, Netland Peter A, Liu Xiaorong

机构信息

Department of Biology, University of Virginia, Charlottesville, VA, USA.

Neuroscience Graduate Program, University of Virginia, Charlottesville, VA, USA.

出版信息

Curr Neurobiol. 2021;12(1):14-19.

PMID:38125639
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10732493/
Abstract
摘要

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Gene dosage manipulation alleviates manifestations of hereditary haploinsufficiency in mice.基因剂量操纵可减轻小鼠遗传性单倍不足表型。
Sci Transl Med. 2020 Dec 9;12(573). doi: 10.1126/scitranslmed.aaz4894.
2
PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance.PAX6 突变改变小鼠的昼夜节律和β细胞功能，而不影响葡萄糖耐量。
Commun Biol. 2020 Oct 30;3(1):628. doi: 10.1038/s42003-020-01337-x.
3
Pax6 modulates intra-retinal axon guidance and fasciculation of retinal ganglion cells during retinogenesis.
Exp Eye Res. 2022 May;218:109012. doi: 10.1016/j.exer.2022.109012. Epub 2022 Mar 1.
4
In vivo imaging of the inner retinal layer structure in mice after eye-opening using visible-light optical coherence tomography.睁眼后利用可见光光学相干断层扫描对小鼠内视网膜层结构进行体内成像。
Exp Eye Res. 2021 Oct;211:108756. doi: 10.1016/j.exer.2021.108756. Epub 2021 Sep 4.
Pax6 调节视网膜发生过程中视网膜神经节细胞的内视网膜轴突导向和聚集。
Sci Rep. 2020 Sep 30;10(1):16075. doi: 10.1038/s41598-020-72828-4.
4
Evaluating assumptions of definition-based pulmonary exacerbation endpoints in cystic fibrosis clinical trials.评估基于定义的肺恶化终点在囊性纤维化临床试验中的假设。
J Cyst Fibros. 2021 Jan;20(1):39-45. doi: 10.1016/j.jcf.2020.07.008. Epub 2020 Jul 15.
5
PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.PAX6 基因型与先天性无虹膜的视网膜表型特征。
Invest Ophthalmol Vis Sci. 2020 May 11;61(5):14. doi: 10.1167/iovs.61.5.14.
6
Impact of corneal parameters on intraocular pressure measurements in different tonometry methods.角膜参数对不同眼压测量方法中眼压测量的影响。
Int J Ophthalmol. 2019 Dec 18;12(12):1853-1858. doi: 10.18240/ijo.2019.12.06. eCollection 2019.
7
Comparability of three intraocular pressure measurement: iCare pro rebound, non-contact and Goldmann applanation tonometry in different IOP group.三种眼压测量方法的比较：iCare pro 回弹眼压计、非接触眼压计和 Goldmann 压平眼压计在不同眼压组中的比较。
BMC Ophthalmol. 2019 Nov 14;19(1):225. doi: 10.1186/s12886-019-1236-5.
8
Strategies against Nonsense: Oxadiazoles as Translational Readthrough-Inducing Drugs (TRIDs).对抗无意义突变策略：恶二唑类作为翻译通读诱导药物（TRIDs）。
Int J Mol Sci. 2019 Jul 6;20(13):3329. doi: 10.3390/ijms20133329.
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Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses of ELX-02, a Potential Treatment for Genetic Disorders Caused by Nonsense Mutations, in Healthy Volunteers.ELX-02 单剂量递增给药的安全性、耐受性和药代动力学研究，ELX-02 是一种治疗由无义突变引起的遗传疾病的潜在药物，在健康志愿者中进行。
Clin Pharmacol Drug Dev. 2019 Nov;8(8):984-994. doi: 10.1002/cpdd.647. Epub 2019 Jan 16.
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New Assay Measuring Direct Interaction of Nonsense Suppressors with the Eukaryotic Protein Synthesis Machinery.用于检测无义抑制子与真核生物蛋白质合成机制直接相互作用的新检测方法。
ACS Med Chem Lett. 2018 Nov 21;9(12):1285-1291. doi: 10.1021/acsmedchemlett.8b00472. eCollection 2018 Dec 13.