ArticleInvestigative ophthalmology & visual science2012
A single-base substitution in the seed region of miR-184 causes EDICT syndrome.
Article in Investigative ophthalmology & visual science, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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Who cites it
66 citing papers in PubMed, 112 citations in OpenAlex.
- Genome-wide annotation of human multi-nucleotide variants reveals widespread functional differences from single nucleotide variants.Nature communications · 2026Article
- The miR-183/96/182 Cluster Regulates Trigeminal Ganglion Sensory Neurons' Response toPathogens (Basel, Switzerland) · 2026Article
- The +57C>T substitution in microRNA-184 is associated with microphthalmia, retinal detachment, and altered ocular development.medRxiv : the preprint server for health sciences · 2026Article
- The Role of miRNAs in Retinal Physiology and in Inherited Retinal Disorders.Physiology (Bethesda, Md.) · 2026Review
- The miR-183/96/182 Cluster Regulates Trigeminal Ganglion Sensory Neurons' Response tobioRxiv : the preprint server for biology · 2026Article
- The Genetic and Epigenetic Architecture of Keratoconus: Emerging Pathways and Clinical Implications.Genes · 2026Review
- Targeting miR-184 to Enhance Corneal Epithelial Wound Healing: In Vivo Knockout, Antisense Inhibition, and Exosome-Mediated Delivery.Investigative ophthalmology & visual science · 2025Article
- 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
- Keratoconus: The Local Manifestation of a Systemic Disease?Journal of clinical medicine · 2025Review
- Fine Regulation of MicroRNAs in Gene Regulatory Networks and Pathophysiology.International journal of molecular sciences · 2025Review
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- The miR-183/96/182 cluster regulates sensory innervation, resident myeloid cells and functions of the cornea through cell type-specific target genes.Scientific reports · 2024Article
- miR-26 Deficiency Causes Alterations in Lens Transcriptome and Results in Adult-Onset Cataract.Investigative ophthalmology & visual science · 2024Article
- miR-26 deficiency causes alterations in lens transcriptome and results in adult-onset cataract.bioRxiv : the preprint server for biology · 2024Article
- microRNA-184 in the landscape of human malignancies: a review to roles and clinical significance.Cell death discovery · 2023Review
- The Interplay Between Metabolites and MicroRNAs in Aqueous Humor to Coordinate Corneal Endothelium Integrity.Ophthalmology science · 2023Article
- A gain-of-function mutation in microRNA 142 is sufficient to cause the development of T-cell leukemia in mice.Cancer science · 2023Article
- Cellular Interplay Through Extracellular Vesicle miR-184 Alleviates Corneal Endothelium Degeneration.Ophthalmology science · 2022Article
- MicroRNA of Epithelial to Mesenchymal Transition in Fuchs' Endothelial Corneal Dystrophy.Genes · 2022Review
6 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo investigate the cause of the syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT).
methodsPreviously a multigenerational family was reported that comprised 10 individuals affected by syndromal anterior segment dysgenesis. Blood samples were re-collected from eight affected and two unaffected individuals, and genomic DNA was extracted. A total of 24 candidate genes and 4 microRNAs residing within the critical interval were sequenced bidirectionally. In silico analyses were performed to examine the effect of the causal variant on the stability of the pre-microRNA structure.
resultsBidirectional sequencing identified the single-base substitution +57C>T in miR-184. This variation segregated with the disease phenotype and was absent in the 1000 Genomes project, 1130 control chromosomes, and 28 nonhuman vertebrates.
conclusionsThe single-base-pair substitution in the seed region of miR-184 is responsible for the disease phenotype observed in EDICT syndrome.
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Registered trials
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.