ArticleFrontiers in bioscience (Landmark edition)2012
Current understanding of usher syndrome type II.
Article in Frontiers in bioscience (Landmark edition), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed, 36 citations in OpenAlex.
- Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.Molecular & cellular proteomics : MCP · 2026Article
- AFrontiers in cell and developmental biology · 2026Article
- Syndromic Retinitis Pigmentosa: A Narrative Review.Vision (Basel, Switzerland) · 2025Review
- Unique ultrastructural organization of human rod photoreceptors.Communications biology · 2025Article
- Loss of Usher II Proteins in Mice Does Not Affect Photoreceptor Ultrastructure.Advances in experimental medicine and biology · 2025Article
- Human rod photoreceptor outer segments are supported by accessory inner segment structures.bioRxiv : the preprint server for biology · 2024Article
- A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery.International journal of molecular sciences · 2023Review
- Deafness-related protein PDZD7 forms complex with the C-terminal tail of FCHSD2.The Biochemical journal · 2022Article
- Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.Human genetics · 2022Review
- Retinal Gene Therapy for Usher Syndrome: Current Developments, Challenges, and Perspectives.International ophthalmology clinics · 2021Article
- Usher Syndrome: Genetics of a Human Ciliopathy.International journal of molecular sciences · 2021Review
- Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.Frontiers in genetics · 2020Review
- Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II.Molecular medicine reports · 2019Article
- Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.Scientific reports · 2017Article
- The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.Human molecular genetics · 2017Article
- The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome.PloS one · 2016Article
- Novel grading system for quantification of cystic macular lesions in Usher syndrome.Orphanet journal of rare diseases · 2015Observational
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochimica et biophysica acta · 2015Review
- A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.Journal of genetics · 2014Article
- Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Usher syndrome is the most common deafness-blindness caused by genetic mutations. To date, three genes have been identified underlying the most prevalent form of Usher syndrome, the type II form (USH2). The proteins encoded by these genes are demonstrated to form a complex in vivo. This complex is localized mainly at the periciliary membrane complex in photoreceptors and the ankle-link of the stereocilia in hair cells. Many proteins have been found to interact with USH2 proteins in vitro, suggesting that they are potential additional components of this USH2 complex and that the genes encoding these proteins may be the candidate USH2 genes. However, further investigations are critical to establish their existence in the USH2 complex in vivo. Based on the predicted functional domains in USH2 proteins, their cellular localizations in photoreceptors and hair cells, the observed phenotypes in USH2 mutant mice, and the known knowledge about diseases similar to USH2, putative biological functions of the USH2 complex have been proposed. Finally, therapeutic approaches for this group of diseases are now being actively explored.
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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.