ArticleGene therapy2018
Epistasis between Pax6
Article in Gene therapy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- First pilot study of intrastromal rAAV-PAX6 gene therapy suggests improved corneal thickness and transcription correction in aniridic mouse.Molecular therapy. Advances · 2026Article
- Transcriptomic Analysis in a Model of Aniridia-Associated Keratopathy for Target Discovery and Evaluation of Duloxetine Therapy.Investigative ophthalmology & visual science · 2026Article
- A novel minimally humanized mouse model of aniridia for preclinical evaluation of CRISPR gene editing strategies.Frontiers in genome editing · 2026Article
- Central Corneal Epithelial Wounding Accelerates Aniridia-Associated Keratopathy in PAX6-Deficient Mice.Investigative ophthalmology & visual science · 2025Article
- Establishing Preclinical Quantitative Parameters for Future Assessment of Corneal and Retinal Therapeutics for Aniridia.Investigative ophthalmology & visual science · 2025Article
- A human-like model of aniridia-associated keratopathy for mechanistic and therapeutic studies.JCI insight · 2024Article
- Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation.Scientific reports · 2024Article
- Characterization of neural damage and neuroinflammation in Pax6 small-eye mice.Experimental eye research · 2024Article
- Reduction of lens size in PAX6-related aniridia.Experimental eye research · 2024Article
- rAAV-PHP.B escapes the mouse eye and causes lethality whereas rAAV9 can transduce aniridic corneal limbal stem cells without lethality.Gene therapy · 2023Article
- ABE8e Corrects Pax6-Aniridic Variant in Humanized Mouse ESCs and via LNPs in Ex Vivo Cortical Neurons.Ophthalmology and therapy · 2023Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Long-term retinal protection by MEK inhibition in Pax6 haploinsufficiency mice.Experimental eye research · 2022Article
- Neural damage and neuroprotection with glaucoma development in aniridia.Current neurobiology · 2021Article
- Germline CRISPR/Cas9-Mediated Gene Editing Prevents Vision Loss in a Novel Mouse Model of Aniridia.Molecular therapy. Methods & clinical development · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
The small eye (Sey) mouse is a model of PAX6-aniridia syndrome (aniridia). Aniridia, a congenital ocular disorder caused by heterozygous loss-of-function mutations in PAX6, needs new vision saving therapies. However, high phenotypic variability in Sey mice makes development of such therapies challenging. We hypothesize that genetic background is a major source of undesirable variability in Sey mice. Here we performed a systematic quantitative examination of anatomical, histological, and molecular phenotypes on the inbred C57BL/6J, hybrid B6129F1, and inbred 129S1/SvImJ backgrounds. The Sey allele significantly reduced eye weight, corneal thickness, PAX6 mRNA and protein levels, and elevated blood glucose levels. Surprisingly, Pax6
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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 Socratic graph.