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Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Mutations in STRC account for 16% of the recessive cases, and only a few more (MYO15A, MYO7A, LOXHD1, USH2A, TMPRSS3, CDH23, TMC1, OTOF, OTOA, SLC26A4, ADGRV1 and TECTA) have contributions higher than 2%. As regards autosomal-dominant NSHI, DFNA22 (MYO6) and …
Mutations in STRC account for 16% of the recessive cases, and only a few more (MYO15A, MYO7A, LOXHD1, USH2A, TMPRSS3, CDH23, TMC1, OT …
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.
Currently, at least 23 genes, associated with human syndromic and nonsyndromic hearing loss, encode proteins involved in the development and maintenance of stereocilia F-actin cores. ...Here, we review the functions of several molecular components of stereoci …
Currently, at least 23 genes, associated with human syndromic and nonsyndromic hearing loss, encode proteins involved i …