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
2014
Connexin26 (GJB2) deficiency reduces active cochlear amplification leading to late-onset hearing loss
Zhu Y, Chen J, Liang C, Zong L, Chen J, Jones R, Zhao H. Connexin26 (GJB2) deficiency reduces active cochlear amplification leading to late-onset hearing loss. Neuroscience 2014, 284: 719-729. PMID: 25451287, PMCID: PMC4268423, DOI: 10.1016/j.neuroscience.2014.10.061.Peer-Reviewed Original ResearchConceptsLate-onset hearing lossActive cochlear amplificationDistortion product otoacoustic emissionsHearing lossNonsyndromic hearing lossTherapeutic interventionsProgressive hearing lossHair cell lossPostnatal day 5Cochlear amplificationProduct otoacoustic emissionsConditional knockout miceKnockout miceClinical observationsDay 5Cell lossEndocochlear potentialOtoacoustic emissionsNormal hearingCx26 expressionDeafness mechanismMiceCx26 deficiencyCochleaIntervention
2013
Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise
Yan D, Zhu Y, Walsh T, Xie D, Yuan H, Sirmaci A, Fujikawa T, Wong A, Loh T, Du L, Grati M, Vlajkovic S, Blanton S, Ryan A, Chen Z, Thorne P, Kachar B, Tekin M, Zhao H, Housley G, King M, Liu X. Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 2228-2233. PMID: 23345450, PMCID: PMC3568371, DOI: 10.1073/pnas.1222285110.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphateAmino Acid SequenceAnimalsDisease Models, AnimalEvoked Potentials, AuditoryFemaleGenes, DominantHearing Loss, Noise-InducedHearing Loss, SensorineuralHeterozygoteHumansIon Channel GatingMaleMiceMice, Inbred C57BLMice, KnockoutMolecular Sequence DataMutation, MissensePedigreePenetranceReceptors, Purinergic P2X2Sequence Homology, Amino AcidYoung AdultConceptsHigh-frequency hearing lossHearing lossNoise-induced hearing lossAge-related hearing lossProgressive hearing lossSevere progressive hearing lossCoexpression of mutantLoss of ATPLoss of functionNoise exposureNormal hearingReceptor subunitsHuman morbidityP2X2 receptorsMajor causeYoung adultsYoung adulthoodEarly exposureHallmark featureFamily membersReceptorsExposureIndex familyShared causeCause