Ontology highlight
ABSTRACT:
SUBMITTER: Fetoni AR
PROVIDER: S-EPMC6129666 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Fetoni Anna Rita AR Zorzi Veronica V Paciello Fabiola F Ziraldo Gaia G Peres Chiara C Raspa Marcello M Scavizzi Ferdinando F Salvatore Anna Maria AM Crispino Giulia G Tognola Gabriella G Gentile Giulia G Spampinato Antonio Gianmaria AG Cuccaro Denis D Guarnaccia Maria M Morello Giovanna G Van Camp Guy G Fransen Erik E Brumat Marco M Girotto Giorgia G Paludetti Gaetano G Gasparini Paolo P Cavallaro Sebastiano S Mammano Fabio F
Redox biology 20180807
Mutations in GJB2, the gene that encodes connexin 26 (Cx26), are the most common cause of sensorineural hearing impairment. The truncating variant 35delG, which determines a complete loss of Cx26 protein function, is the prevalent GJB2 mutation in several populations. Here, we generated and analyzed Gjb2<sup>+/-</sup> mice as a model of heterozygous human carriers of 35delG. Compared to control mice, auditory brainstem responses (ABRs) and distortion product otoacoustic emissions (DPOAEs) worsen ...[more]