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• W2045791307 abstract "Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation found in children with sensorineural hearing loss that is frequently associated with loss-of-function or hypo-function mutations of SLC26A4. SLC26A4 codes for pendrin, which is a protein that is expressed in apical membranes of selected epithelia and functions as an anion exchanger. The comparatively high prevalence of EVA provides a strong imperative to develop rational interventions that delay, ameliorate or prevent hearing loss associated with this phenotype. The development of rational interventions requires a fundamental understanding of the role that pendrin plays in the normal development of hearing, as well as a detailed understanding of the pathobiologic mechanisms that, in the absence of fully functional pendrin, lead to an unstable hearing phenotype, with fluctuating or progressive loss of hearing. This review summarizes studies in mouse models that have focused on delineating the role of pendrin in the physiology of the inner ear and the pathobiology that leads to hearing loss." @default.
• W2045791307 created "2016-06-24" @default.
• W2045791307 creator A5037292569 @default.
• W2045791307 date "2011-01-01" @default.
• W2045791307 modified "2023-10-02" @default.
• W2045791307 title "The Role of Pendrin in the Development of the Murine Inner Ear" @default.
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• W2045791307 doi "https://doi.org/10.1159/000335113" @default.
• W2045791307 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7077107" @default.
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