ArticleThe Journal of clinical investigation2011
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition.
Article in The Journal of clinical investigation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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Who cites it
75 citing papers in PubMed, 129 citations in OpenAlex.
- Exploration of biodistribution of mRNA-delivering lipid nanoparticles in the neonatal mouse inner ear.International journal of pharmaceutics: X · 2026Article
- Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea.Human genetics · 2026Article
- Postnatal Slc26a4 gene therapy improves hearing and structural integrity in a hereditary hearing loss model.The Journal of clinical investigation · 2026Article
- Genetic and Environmental Factors Shaping Hearing Loss: Xenobiotics, Mechanisms and Translational Perspectives.Journal of xenobiotics · 2026Review
- Structural basis for substrate recognition mechanism of human SLC26A7.Nature communications · 2025Article
- Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants.International journal of molecular medicine · 2025Article
- Common genetic etiologies of sensorineural hearing loss in Koreans.Genomics & informatics · 2024Review
- CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model.Gene therapy · 2024Article
- SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac.Science advances · 2024Article
- Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay.BMC medical genomics · 2024Article
- Functional Studies of Deafness-Associated Pendrin and Prestin Variants.International journal of molecular sciences · 2024Article
- The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024Article
- The role ofFrontiers in molecular neuroscience · 2024Review
- SLC26 Anion Transporters.Handbook of experimental pharmacology · 2024Review
- ClC-K Kidney Chloride Channels: From Structure to Pathology.Handbook of experimental pharmacology · 2024Article
- Reversal of an existing hearing loss by gene activation inProceedings of the National Academy of Sciences of the United States of America · 2023Article
- Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4BMC medical genomics · 2023Article
- The evolution of the various structures required for hearing inIBRO neuroscience reports · 2023Article
- Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.Nature communications · 2023Article
- The role of the stria vascularis in neglected otologic disease.Hearing research · 2023Review
15 more citing papers are in PubMed but not listed here.
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 4 institutions in 2 countries.
Funding
Abstract
Mutations in human SLC26A4 are a common cause of hearing loss associated with enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger expressed in inner ear epithelial cells that secretes HCO3- into endolymph. Studies of Slc26a4-null mice indicate that pendrin is essential for inner ear development, but have not revealed whether pendrin is specifically necessary for homeostasis. Slc26a4-null mice are profoundly deaf, with severe inner ear malformations and degenerative changes that do not model the less severe human phenotype. Here, we describe studies in which we generated a binary transgenic mouse line in which Slc26a4 expression could be induced with doxycycline. The transgenes were crossed onto the Slc26a4-null background so that all functional pendrin was derived from the transgenes. Varying the temporal expression of Slc26a4 revealed that E16.5 to P2 was the critical interval in which pendrin was required for acquisition of normal hearing. Lack of pendrin during this period led to endolymphatic acidification, loss of the endocochlear potential, and failure to acquire normal hearing. Doxycycline initiation at E18.5 or discontinuation at E17.5 resulted in partial hearing loss approximating the human EVA auditory phenotype. These data collectively provide mechanistic insight into hearing loss caused by SLC26A4 mutations and establish a model for further studies of EVA-associated hearing loss.
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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.