The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Otorhinolaryngology
Link
https://link.springer.com/content/pdf/10.1007/s00405-023-08123-5.pdf
Reference20 articles.
1. Honda K, Griffith AJ (2022) Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss. Hum Genet 141(3–4):455–464. https://doi.org/10.1007/s00439-021-02311-1
2. Choi BY, Kim HM, Ito T et al (2011) Mouse model of enlarged vestibular aqueducts defines temporal requirement of SLC26A4 expression for hearing acquisition. J Clin Invest 121(11):4516–4525. https://doi.org/10.1172/JCI59353
3. Everett LA, Morsli H, Wu DK et al (1999) Expression pattern of the mouse ortholog of the Pendred’s syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci 96(17):9727–9732. https://doi.org/10.1073/pnas.96.17.9727
4. Wangemann P, Nakaya K, Wu T et al (2007) Loss of cochlear HCO 3 − secretion causes deafness via endolymphatic acidification and inhibition of Ca 2+ reabsorption in a Pendred syndrome mouse model. Am J Physiol-Renal 292(5):F1345–F1353. https://doi.org/10.1152/-ajprenal.00487.2006
5. Tsukada K, Nishio S, Hattori M et al (2015) Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review. Ann Otol Rhinol Laryngol 124(1):61–76. https://doi.org/10.1177/0003489415575060
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