2000
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
Smith A, Skaug J, Choate K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Lifton R, Scherer S, Karet F. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics 2000, 26: 71-75. PMID: 10973252, DOI: 10.1038/79208.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdenosine TriphosphatasesAdolescentAdultAmino Acid SequenceAudiometryBlotting, NorthernBrainChildChild, PreschoolChromosomes, Human, Pair 7Contig MappingDNA, ComplementaryExonsFemaleGene DeletionGenes, RecessiveGenetic LinkageGenetic MarkersHearingHomozygoteHumansKidneyKidney CortexMaleMicroscopy, FluorescenceMitochondrial Proton-Translocating ATPasesModels, GeneticMolecular Sequence DataMutationPedigreePhysical Chromosome MappingPolymorphism, GeneticPolymorphism, Single-Stranded ConformationalPregnancy ProteinsProtein BiosynthesisProtein IsoformsProton PumpsProton-Translocating ATPasesRecombination, GeneticRNA SplicingSequence Homology, Amino AcidSuppressor Factors, ImmunologicTissue DistributionVacuolar Proton-Translocating ATPasesConceptsDistal renal tubular acidosesDistal nephronDistal renal tubular acidosisRecessive distal renal tubular acidosisRenal tubular acidosisGroup of disordersHuman kidney cortexRenal tubular acidosesNormal audiometryMetabolic acidosisTubular acidosisDifferent homozygous mutationsKidney-specific isoformKidney cortexPotassium balanceApical surfaceBone physiologyHomozygous mutationImmunofluorescence studiesMain organsProton-secreting cellsATPase pumpNorthern blot analysisAcidosisCalcium solubility
1997
A Model of Corrective Gene Transfer in X-Linked Ichthyosis
Freiberg R, Choate K, Deng H, Alperin E, Shapiro L, Khavari P. A Model of Corrective Gene Transfer in X-Linked Ichthyosis. Human Molecular Genetics 1997, 6: 927-933. PMID: 9175741, DOI: 10.1093/hmg/6.6.927.Peer-Reviewed Original ResearchConceptsSTS protein expressionCorrective gene deliveryDefective skin barrier functionSkin barrier functionSTS expressionCorrective gene transferBarrier function parametersCutaneous gene deliveryGenetic skin disordersImmunodeficient miceHistologic appearanceSame patientNormal controlsHyperkeratotic epidermisSkin disordersLoss of functionNormal skinPatientsBarrier functionXLI patientsProtein expressionPrimary keratinocytesPatient skin tissueCutaneous gene therapyHuman epidermis