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特刊介绍：遗传性视网膜疾病：新型候选基因、基因型-表型相关性及遗传模式

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.

作者信息

Cremers Frans P M, Boon Camiel J F, Bujakowska Kinga, Zeitz Christina

机构信息

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

Department of Ophthalmology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

出版信息

Genes (Basel). 2018 Apr 16;9(4):215. doi: 10.3390/genes9040215.

DOI:10.3390/genes9040215
PMID:29659558
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5924557/
Abstract

Inherited retinal diseases (IRDs) are genetically and clinically heterogeneous disorders.[...].

摘要

遗传性视网膜疾病（IRDs）是具有遗传和临床异质性的疾病。[……]

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CRISPR J. 2018 Feb;1(1):55-64. doi: 10.1089/crispr.2017.0009.
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Non-syndromic retinitis pigmentosa.非综合征性视网膜色素变性。
Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27.
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Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
遗传性眼病中遗传咨询与检测的重要性：一项基于人群的回顾性研究。
PLoS One. 2025 Feb 13;20(2):e0318492. doi: 10.1371/journal.pone.0318492. eCollection 2025.
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high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration.高内涵筛选揭示miR-429是光感受器变性中的一种保护分子。
Mol Ther Nucleic Acids. 2024 Dec 22;36(1):102434. doi: 10.1016/j.omtn.2024.102434. eCollection 2025 Mar 11.
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Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.在资源匮乏地区使用增强型下一代测序面板对遗传性视网膜疾病患者进行筛查
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Front Pharmacol. 2024 Oct 22;15:1485831. doi: 10.3389/fphar.2024.1485831. eCollection 2024.
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