2003
Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+-ATPase B1-subunit
Finberg KE, Wagner CA, Stehberger PA, Geibel JP, Lifton RP. Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+-ATPase B1-subunit. Gene 2003, 318: 25-34. PMID: 14585495, DOI: 10.1016/s0378-1119(03)00790-x.Peer-Reviewed Original ResearchMeSH Keywords5' Flanking RegionAmino Acid SequenceAnimalsAntibody SpecificityBase SequenceCloning, MolecularDNADNA, ComplementaryEpididymisGene Expression Regulation, EnzymologicHumansImmune SeraImmunohistochemistryIsoenzymesKidneyMaleMiceMice, Inbred StrainsMolecular Sequence DataPhylogenyProtein SubunitsRNA, MessengerSequence AlignmentSequence Analysis, DNASequence Homology, Amino AcidSequence Homology, Nucleic AcidVacuolar Proton-Translocating ATPasesConceptsDistal renal tubular acidosisRenal tubular acidosisMouse renal cortexProton-translocating ATPasesTubular acidosisRenal cortexSubset of tissuesAnimal modelsATP6V1B1Major organsGenomic organizationGenomic lociMouse kidneyProtein levelsMolecular cloningAcid proteinPlasma membraneMurine orthologIntracellular organellesB1 isoformKidneyNorthern blotting
2001
Molecular Cloning and Characterization of Atp6n1b A NOVEL FOURTH MURINE VACUOLAR H+-ATPase a-SUBUNIT GENE*
Smith A, Finberg K, Wagner C, Lifton R, Devonald M, Su Y, Karet F. Molecular Cloning and Characterization of Atp6n1b A NOVEL FOURTH MURINE VACUOLAR H+-ATPase a-SUBUNIT GENE*. Journal Of Biological Chemistry 2001, 276: 42382-42388. PMID: 11495928, DOI: 10.1074/jbc.m107267200.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsAquaporin 2Aquaporin 6AquaporinsChromosome MappingCloning, MolecularMiceMolecular Sequence DataPhylogenyPolymorphism, GeneticPregnancy ProteinsProtein SubunitsProton PumpsProton-Translocating ATPasesReverse Transcriptase Polymerase Chain ReactionSuppressor Factors, ImmunologicVacuolar Proton-Translocating ATPasesConceptsAutosomal recessive distal renal tubular acidosisDistal renal tubular acidosisRecessive distal renal tubular acidosisMale genital tissuesRenal tubular acidosisReverse transcription-polymerase chain reactionTranscription-polymerase chain reactionPolymerase chain reactionTubular acidosisGenital tissues
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
1994
Large-scale analysis of gene expression, protein localization, and gene disruption in Saccharomyces cerevisiae.
Burns N, Grimwade B, Ross-Macdonald P, Choi E, Finberg K, Roeder G, Snyder M. Large-scale analysis of gene expression, protein localization, and gene disruption in Saccharomyces cerevisiae. Genes & Development 1994, 8: 1087-1105. PMID: 7926789, DOI: 10.1101/gad.8.9.1087.Peer-Reviewed Original ResearchConceptsFusion proteinFusion geneSubcellular locationGene productsCytoplasmic dotsVegetative growthVegetative cellsSpecific subcellular locationsSpindle pole bodyEncoded gene productsLarge-scale screenOpen reading frameGal fusion proteinLife cycleYeast genesYeast genomeGenomic libraryPole bodyHomozygous diploidsHaploid cellsProtein localizationIndirect immunofluorescence analysisGene disruptionReading frameDNA sequences