ArticleHuman molecular genetics2020
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
- Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.Molecular & cellular proteomics : MCP · 2026Article
- Exploring exon excision as a therapeutic intervention strategy for the future treatment ofMolecular therapy. Nucleic acids · 2025Article
- Exon Skipping Therapy Restores Ciliary Function in USH2A-Related Retinal Degeneration.Investigative ophthalmology & visual science · 2025Article
- The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.PLoS genetics · 2025Article
- Long-term natural history of ellipsoid zone width inThe British journal of ophthalmology · 2025Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Article
- The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.bioRxiv : the preprint server for biology · 2024Article
- Multimodal photoacoustic microscopy, optical coherence tomography, and fluorescence imaging of USH2A knockout rabbits.Scientific reports · 2023Article
- Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.Scientific reports · 2023Article
- Article
- Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.Communications biology · 2023Article
- Successful large gene augmentation of USH2A with non-viral episomal vectors.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping forMolecular therapy. Nucleic acids · 2023Article
- Article
- The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.Nature communications · 2023Article
- Lrpap1 deficiency leads to myopia through TGF-β-induced apoptosis in zebrafish.Cell communication and signaling : CCS · 2022Article
- The zebrafish cohesin protein Sgo1 is required for cardiac function and eye development.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- The Natural History ofInternational journal of molecular sciences · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 7 institutions in 3 countries.
Funding
Abstract
USH2A variants are the most common cause of Usher syndrome type 2, characterized by congenital sensorineural hearing loss and retinitis pigmentosa (RP), and also contribute to autosomal recessive non-syndromic RP. Several treatment strategies are under development; however, sensitive clinical trial endpoint metrics to determine therapeutic efficacy have not been identified. In the present study, we have performed longitudinal retrospective examination of the retinal and auditory symptoms in (i) 56 biallelic molecularly confirmed USH2A patients and (ii) ush2a mutant zebrafish to identify metrics for the evaluation of future clinical trials and rapid preclinical screening studies. The patient cohort showed a statistically significant correlation between age and both rate of constriction for the ellipsoid zone length and hyperautofluorescent outer retinal ring area. Visual acuity and pure tone audiograms are not suitable outcome measures. Retinal examination of the novel ush2au507 zebrafish mutant revealed a slowly progressive degeneration of predominantly rods, accompanied by rhodopsin and blue cone opsin mislocalization from 6 to 12 months of age with lysosome-like structures observed in the photoreceptors. This was further evaluated in the ush2armc zebrafish model, which revealed similar changes in photopigment mislocalization with elevated autophagy levels at 6 days post fertilization, indicating a more severe genotype-phenotype correlation and providing evidence of new insights into the pathophysiology underlying USH2A-retinal disease.
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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.