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Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.遗传性视网膜疾病的表型和基因型分析: 黄斑营养不良、视锥细胞和视锥-视杆营养不良、视杆-视锥营养不良、Leber 先天性黑矇和视锥功能障碍综合征的分子遗传学、临床和影像学特征及治疗方法。
Prog Retin Eye Res. 2024 May;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Epub 2024 Jan 24.
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The h-Index: Understanding its predictors, significance, and criticism.h指数:了解其预测因素、意义及批评意见。
J Family Med Prim Care. 2023 Nov;12(11):2531-2537. doi: 10.4103/jfmpc.jfmpc_1613_23. Epub 2023 Nov 21.
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A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.俄罗斯联邦 RPE65 相关遗传性视网膜退行性变的分子遗传学分析。
Genes (Basel). 2023 Nov 9;14(11):2056. doi: 10.3390/genes14112056.
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Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.腺相关病毒基因治疗在视网膜变性患者中的安全性和疗效:系统评价和荟萃分析。
Transl Vis Sci Technol. 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24.
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A bibliometric analysis of research on genetic retinal diseases done in India.印度开展的遗传性视网膜疾病研究的文献计量分析。
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Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.玻璃体腔注射反义寡核苷酸 sepofarsen 治疗 10 型莱伯先天性黑矇:1b/2 期临床试验。
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7
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.遗传性视网膜疾病:基因、致病变异与相关治疗方式的关联。
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8
Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.Leber 先天性黑矇:基因型-表型相关性的当前概念。
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Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.中国西部汉族人群莱伯先天性黑矇的分子遗传学与临床特征。
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10
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.遗传性视网膜营养不良的基因治疗进展:Leber 先天性黑矇临床试验经验。
Int J Mol Sci. 2021 Apr 26;22(9):4534. doi: 10.3390/ijms22094534.

莱伯先天性黑蒙症研究的出版趋势:一项2002 - 2022年的文献计量学研究

Publication trends of Leber congenital amaurosis researches: a bibliometric study during 2002-2022.

作者信息

Huang Xiao-Xu, Wang Yi-Min, Xie Min-Yue, Sun Yi-Qing, Zhao Xiao-Huan, Chen Yu-Hong, Chen Jie-Qiong, Han Si-Yang, Zhou Min-Wen, Sun Xiao-Dong

机构信息

Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200080, China.

National Clinical Research Center for Eye Disease, Shanghai 200080, China.

出版信息

Int J Ophthalmol. 2024 Aug 18;17(8):1501-1509. doi: 10.18240/ijo.2024.08.17. eCollection 2024.

DOI:10.18240/ijo.2024.08.17
PMID:39156783
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11286431/
Abstract

AIM

To analyze the changes in scientific output relating to Leber congenital amaurosis (LCA) and forecast the study trends in this field.

METHODS

All of the publications in the field of LCA from 2002 to 2022 were collected from Web of Science (WOS) database. We analyzed the quantity (number of publications), quality (citation and H-index) and development trends (relative research interest, RRI) of published LCA research over the last two decades. Moreover, VOSviewer software was applied to define the co-occurrence network of keywords in this field.

RESULTS

A total of 2158 publications were ultimately examined. We found that the focus on LCA kept rising and peaked in 2015 and 2018, which is consistent with the development trend of gene therapy. The USA has contributed most to this field with 1162 publications, 56 674 citations and the highest H-index value (116). The keywords analysis was divided into five clusters to show the hotspots in the field of LCA, namely mechanism-related, genotype-related, local phenotype-related, system phenotype-related, and therapy-related. We also identified gene therapy and anti-retinal degeneration therapy as a major focus in recent years.

CONCLUSION

Our study illustrates historical research process and future development trends in LCA field. This may help to guide the orientation for further clinical diagnosis, treatment and scientific research.

摘要

目的

分析与莱伯先天性黑蒙(LCA)相关的科研产出变化,并预测该领域的研究趋势。

方法

从科学网(WOS)数据库收集2002年至2022年LCA领域的所有出版物。我们分析了过去二十年发表的LCA研究的数量(出版物数量)、质量(引用次数和H指数)以及发展趋势(相对研究兴趣,RRI)。此外,应用VOSviewer软件确定该领域关键词的共现网络。

结果

最终共审查了2158篇出版物。我们发现对LCA的关注持续上升,并在2015年和2018年达到峰值,这与基因治疗的发展趋势一致。美国在该领域的贡献最大,有1162篇出版物、56674次引用以及最高的H指数值(116)。关键词分析分为五个聚类,以展示LCA领域的热点,即机制相关、基因型相关、局部表型相关、系统表型相关和治疗相关。我们还确定基因治疗和抗视网膜变性治疗是近年来的主要重点。

结论

我们的研究阐述了LCA领域的历史研究过程和未来发展趋势。这可能有助于指导进一步临床诊断、治疗和科研的方向。