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