2023
Cx26 heterozygous mutations cause hyperacusis-like hearing oversensitivity and increase susceptibility to noise
Liu L, Liang C, Chen J, Fang S, Zhao H. Cx26 heterozygous mutations cause hyperacusis-like hearing oversensitivity and increase susceptibility to noise. Science Advances 2023, 9: eadf4144. PMID: 36753545, PMCID: PMC9908021, DOI: 10.1126/sciadv.adf4144.Peer-Reviewed Original ResearchConceptsActive cochlear amplificationCochlear amplificationHeterozygous mutationsPermanent hearing threshold shiftHearing threshold shiftCochlear lateral wallNonsyndromic hearing lossHearing lossMouse modelGeneral populationNoise exposureThreshold shiftHeterozygote carriersHearing sensitivityLateral wallJunction genesGap junction genesPotential generationUnexpected findingExposureMutationsOversensitivityProtein prestinDeafness
2017
A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall
Mei L, Chen J, Zong L, Zhu Y, Liang C, Jones R, Zhao H. A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall. Neurobiology Of Disease 2017, 108: 195-203. PMID: 28823936, PMCID: PMC5675824, DOI: 10.1016/j.nbd.2017.08.002.Peer-Reviewed Original ResearchConceptsCochlear lateral wallEndocochlear potentialHearing lossGap junctional functionDeafness mechanismLateral wallHeterozygous miceCx30 mutationsHair cell degenerationHomozygous knockout miceJunctional functionHeterozygous mouse modelGap junctionsOrgan of CortiSame gap junctional plaquesEP reductionFrequent causePathological changesMouse modelKnockout miceReceptor currentsCell degenerationNormal hearingHeterozygous mutationsMice