ArticleProceedings of the National Academy of Sciences of the United States of America2015
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
81 citing papers in PubMed, 115 citations in OpenAlex.
- MicroRNAs: A Social Network in Diabetic Retinopathy.Biomolecules · 2026Review
- The miR-183/96/182 Cluster Regulates Trigeminal Ganglion Sensory Neurons' Response toPathogens (Basel, Switzerland) · 2026Article
- Retina-specific long non-coding RNAs associated with inherited retinal disease genes.Cellular and molecular life sciences : CMLS · 2026Article
- The Role of miRNAs in Retinal Physiology and in Inherited Retinal Disorders.Physiology (Bethesda, Md.) · 2026Review
- Evolution in metazoans of the TRPM channel family involves multiple gains and losses of genes and domains.Molecular biology and evolution · 2026Article
- The miR-183/96/182 Cluster Regulates Trigeminal Ganglion Sensory Neurons' Response tobioRxiv : the preprint server for biology · 2026Article
- miRNA gene mutations commonly disrupt the proper functioning of miRNA genes.Science advances · 2026Article
- Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.Cellular and molecular life sciences : CMLS · 2026Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- New insight into the neuroimmune interplay in Pseudomonas aeruginosa keratitis.The ocular surface · 2025Article
- Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.Nucleic acids research · 2025Article
- Fine Regulation of MicroRNAs in Gene Regulatory Networks and Pathophysiology.International journal of molecular sciences · 2025Review
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- Light-regulated microRNAs shape dynamic gene expression in the zebrafish circadian clock.PLoS genetics · 2025Article
- miRNA changes associated with differentiation of human embryonic stem cells into human retinal ganglion cells.Scientific reports · 2024Article
- Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation.Scientific reports · 2024Article
- MicroRNA and Rare Human Diseases.Genes · 2024Review
- Mir-204-5p alleviates mitochondrial dysfunction by targeting IGFBP5 in diabetic cataract.Molecular biology reports · 2024Article
- Retinitis pigmentosa with iris coloboma due to miR-204 gene variant in a Chinese family.Molecular genetics & genomic medicine · 2024Article
21 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 4 institutions in 3 countries.
Funding
Abstract
Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collectively represent leading causes of hereditary blindness. Characterized by extreme genetic and clinical heterogeneity, the separate groups share many common genetic causes, in particular relating to pathways controlling retinal and retinal pigment epithelial maintenance. To understand these shared pathways and delineate the overlap between these groups, we investigated the genetic cause of an autosomal dominantly inherited condition of retinal dystrophy and bilateral coloboma, present in varying degrees in a large, five-generation family. By linkage analysis and exome sequencing, we identified a previously undescribed heterozygous mutation, n.37 C > T, in the seed region of microRNA-204 (miR-204), which segregates with the disease in all affected individuals. We demonstrated that this mutation determines significant alterations of miR-204 targeting capabilities via in vitro assays, including transcriptome analysis. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family, including photoreceptor alterations with reduced numbers of both cones and rods as a result of increased apoptosis, thereby confirming the pathogenic effect of the n.37 C > T mutation. Finally, knockdown assays in medaka fish demonstrated that miR-204 is necessary for normal photoreceptor function. Overall, these data highlight the importance of miR-204 in the regulation of ocular development and maintenance and provide the first evidence, to our knowledge, of its contribution to eye disease, likely through a gain-of-function mechanism.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.