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Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB. Miyoshi T, et al. Hum Genet. 2022 Apr;141(3-4):363-382. doi: 10.1007/s00439-021-02304-0. Epub 2021 Jul 7. Hum Genet. 2022. PMID: 34232383 Review.
Deficiencies and mutations of stereocilia components that disturb this "dynamic equilibrium" in stereocilia can induce morphological changes and disrupt mechanotransduction causing sensorineural hearing loss, best studied in mouse and zebrafish models. Currently, at least 23
Deficiencies and mutations of stereocilia components that disturb this "dynamic equilibrium" in stereocilia can induce morphological changes …
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N, Smith RJH, Van Camp G. Hilgert N, et al. Mutat Res. 2009 Mar-Jun;681(2-3):189-196. doi: 10.1016/j.mrrev.2008.08.002. Epub 2008 Aug 29. Mutat Res. 2009. PMID: 18804553 Free PMC article. Review.
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for more than half of cases, followed by SLC26A4, MYO15A, OTOF, CDH23 and TMC1. None of the genes associated with autosomal dom
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsib …