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Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
Honda K, Griffith AJ. Honda K, et al. Hum Genet. 2022 Apr;141(3-4):455-464. doi: 10.1007/s00439-021-02311-1. Epub 2021 Aug 3. Hum Genet. 2022. PMID: 34345941 Review.
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane exchanger of anions and bases. ...Pendred syndrome and DFNB4 are each inherited as an …
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing lo …
Advances in genetic hearing loss: CIB2 gene.
Jacoszek A, Pollak A, Płoski R, Ołdak M. Jacoszek A, et al. Eur Arch Otorhinolaryngol. 2017 Apr;274(4):1791-1795. doi: 10.1007/s00405-016-4330-9. Epub 2016 Oct 22. Eur Arch Otorhinolaryngol. 2017. PMID: 27771768 Free PMC article. Review.
Hearing loss is one of the most frequent disabilities that affect human senses. ...Calcium signaling pathway is crucial for signal transduction in the inner ear, and integrins regulate hair cell differentiation and maturation of the stereocilia. To date, mutations d …
Hearing loss is one of the most frequent disabilities that affect human senses. ...Calcium signaling pathway is crucial for si …