ArticleDevelopmental neurobiology2010
Deafness and retinal degeneration in a novel USH1C knock-in mouse model.
Article in Developmental neurobiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 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
39 citing papers in PubMed, 59 citations in OpenAlex.
- Single-cell analysis reveals impaired Müller glia-mediated intercellular communication and photoreceptor pathology in USH1C retinal organoids.Cellular and molecular life sciences : CMLS · 2026Article
- Research Progress on MET, Tip Link, and Stereocilia Complex with Special Reference to Zebrafish.International journal of molecular sciences · 2025Review
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- A Knockin Model with the Mouse Equivalent to the c.2299delG Mutation in Usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.Advances in experimental medicine and biology · 2025Article
- Cross-continental environmental and genome-wide association study on children and adolescent anxiety and depression.Frontiers in psychiatry · 2024Article
- Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.International journal of molecular sciences · 2023Review
- The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.Nature communications · 2023Article
- A review of the auditory-gut-brain axis.Frontiers in neuroscience · 2023Review
- Usher syndrome type 1-associated gene, pcdh15b, is required for photoreceptor structural integrity in zebrafish.Disease models & mechanisms · 2021Article
- Sensory transduction is required for normal development and maturation of cochlear inner hair cell synapses.eLife · 2021Article
- Usher Syndrome: Genetics of a Human Ciliopathy.International journal of molecular sciences · 2021Review
- Gene Editing in Rabbits: Unique Opportunities for Translational Biomedical Research.Frontiers in genetics · 2021Review
- Direct Delivery of Antisense Oligonucleotides to the Middle and Inner Ear Improves Hearing and Balance in Usher Mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- Functional, Morphological, and Evolutionary Characterization of Hearing in Subterranean, Eusocial African Mole-Rats.Current biology : CB · 2020Article
- Adeno-associated virus gene replacement for recessive inner ear dysfunction: Progress and challenges.Hearing research · 2020Review
- Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction.Hearing research · 2020Review
- Optimizing Auditory Brainstem Response Acquisition Using Interleaved Frequencies.Journal of the Association for Research in Otolaryngology : JARO · 2020Article
- Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction.Nucleic acids research · 2020Article
- Review
- rAAV-Mediated Cochlear Gene Therapy: Prospects and Challenges for Clinical Application.Journal of clinical medicine · 2020Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Usher syndrome is the leading cause of combined deaf-blindness, but the molecular mechanisms underlying the auditory and visual impairment are poorly understood. Usher I is characterized by profound congenital hearing loss, vestibular dysfunction, and progressive retinitis pigmentosa beginning in early adolescence. Using the c.216G>A cryptic splice site mutation in Exon 3 of the USH1C gene found in Acadian Usher I patients in Louisiana, we constructed the first mouse model that develops both deafness and retinal degeneration. The same truncated mRNA transcript found in Usher 1C patients is found in the cochleae and retinas of these knock-in mice. Absent auditory-evoked brainstem responses indicated that the mutant mice are deaf at 1 month of age. Cochlear histology showed disorganized hair cell rows, abnormal bundles, and loss of both inner and outer hair cells in the middle turns and at the base. Retinal dysfunction as evident by an abnormal electroretinogram was seen as early as 1 month of age, with progressive loss of rod photoreceptors between 6 and 12 months of age. This knock-in mouse reproduces the dual sensory loss of human Usher I, providing a novel resource to study the disease mechanism and the development of therapies.
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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.