2003
Mice lacking the B1 subunit of H+-ATPase have normal hearing
Dou H, Finberg K, Cardell EL, Lifton R, Choo D. Mice lacking the B1 subunit of H+-ATPase have normal hearing. Hearing Research 2003, 180: 76-84. PMID: 12782355, DOI: 10.1016/s0378-5955(03)00108-4.Peer-Reviewed Original ResearchMeSH KeywordsAcoustic StimulationAnimalsAnimals, NewbornAuditory ThresholdCochleaEar, InnerEmbryo, MammalianEmbryonic and Fetal DevelopmentEvoked Potentials, Auditory, Brain StemFemaleHearingIn Situ HybridizationMaleMiceMice, KnockoutProtein SubunitsTissue DistributionVacuolar Proton-Translocating ATPasesConceptsNormal inner ear functionInner ear functionMouse inner earInner earEar functionNormal hearingAuditory brainstem response testAutosomal recessive distal renal tubular acidosisSubunit null mutant miceDistal renal tubular acidosisInner ear developmentNormal inner ear developmentRecessive distal renal tubular acidosisRenal tubular acidosisSensorineural hearing lossB1 subunitNull mutant miceAcid-base homeostasisPhysiologic assessmentTubular acidosisClinical dataHearing lossPhysiologic effectsDuct epitheliumATPase B1 subunit
1999
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
Karet F, Finberg K, Nelson R, Nayir A, Mocan H, Sanjad S, Rodriguez-Soriano J, Santos F, Cremers C, Pietro A, Hoffbrand B, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton S, Wu D, Skvorak A, Morton C, Cunningham M, Jha V, Lifton R. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genetics 1999, 21: 84-90. PMID: 9916796, DOI: 10.1038/5022.Peer-Reviewed Original ResearchConceptsRenal tubular acidosisTubular acidosisAcid secretionDistal renal tubular acidosisSensorineural hearing lossRenal acid secretionNormal auditory functionActive proton secretionMetabolic acidosisATP6B1Hearing lossAuditory functionSensorineural deafnessEndolymphatic sacApical proton pumpAcidosisSecretionProton secretionB subunitB1 subunitHuman diseasesMutationsPatientsDiseasePH homeostasis