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
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Karet F, Finberg K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Medina J, Lifton R. Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34. American Journal Of Human Genetics 1999, 65: 1656-1665. PMID: 10577919, PMCID: PMC1288376, DOI: 10.1086/302679.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdenosine TriphosphatasesAdultAnion Transport ProteinsAntiportersChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 2Chromosomes, Human, Pair 7ConsanguinityDNA Mutational AnalysisFemaleGenes, RecessiveHearingHumansHydrogen-Ion ConcentrationInfantInfant, NewbornLod ScoreMaleMembrane ProteinsMiddle EastMolecular Sequence DataPakistanPedigreePolymorphism, Single-Stranded ConformationalSLC4A ProteinsConceptsDistal renal tubular acidosesSensorineural hearing lossNormal hearingProgressive bilateral sensorineural hearing lossBilateral sensorineural hearing lossAutosomal recessive distal renal tubular acidosisDistal renal tubular acidosisRecessive distal renal tubular acidosisSevere metabolic acidosisRenal tubular acidosisRenal tubular acidosesMetabolic acidosisTubular acidosisRenal calcificationHearing lossAlkaline urineATP6B1Distal nephronImpaired hearingApical proton pumpChildhood featuresAcidosisOne-thirdMolecular examinationHearingMutations 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