2012
SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule
Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP. SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule. Pediatric Nephrology 2012, 27: 2081-2090. PMID: 22907601, DOI: 10.1007/s00467-012-2219-4.Peer-Reviewed Original ResearchMeSH KeywordsAbsorptionAge FactorsBiomarkersChildDNA Mutational AnalysisElectrolytesFemaleGenetic Predisposition to DiseaseHearing Loss, SensorineuralHEK293 CellsHomozygoteHumansInfantIntellectual DisabilityKidney Tubules, DistalMaleMembrane PotentialsMicroscopy, ConfocalMutationPedigreePhenotypePotassium Channels, Inwardly RectifyingPredictive Value of TestsSeizuresTransfectionConceptsGitelman syndromeAutosomal recessive syndromeRenal featuresElectrolyte disordersHypokalemic alkalosisClinical presentationElectrolyte imbalanceMedical recordsSignificant worseningBiochemical lossSensorineural deafnessSalt reabsorptionConclusionsThese findingsRecessive syndromeSimilar findingsSyndromeAge 5Mental retardationUnreported familiesSeizuresChannel functionAgeAffected membersFirst yearTubules
2010
Mouse cystic fibrosis transmembrane conductance regulator forms cAMP-PKA–regulated apical chloride channels in cortical collecting duct
Lu M, Dong K, Egan ME, Giebisch GH, Boulpaep EL, Hebert SC. Mouse cystic fibrosis transmembrane conductance regulator forms cAMP-PKA–regulated apical chloride channels in cortical collecting duct. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 6082-6087. PMID: 20231442, PMCID: PMC2851921, DOI: 10.1073/pnas.0902661107.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBenzoatesChloride ChannelsCyclic AMPCyclic AMP-Dependent Protein KinasesCystic Fibrosis Transmembrane Conductance RegulatorFemaleIn Vitro TechniquesKidney CortexKidney Tubules, CollectingKineticsMiceMice, Inbred C57BLMice, Inbred CFTRMice, KnockoutMice, TransgenicMutationOocytesPatch-Clamp TechniquesPotassium Channels, Inwardly RectifyingRecombinant ProteinsThiazolidinesXenopus laevisConceptsCystic fibrosis transmembrane conductance regulatorFibrosis transmembrane conductance regulatorTransmembrane conductance regulatorCl- channel activityConductance regulatorCl- channelsApical membrane proteinsExpression of CFTRChannel activityCFTR Cl- channelApical chloride channelApical cell membraneDeltaF508 CFTR mutationMembrane proteinsCatalytic subunitXenopus laevis oocytesForm proteinPrincipal cellsCFTR channelsROMK null miceApical patchesApical membraneSingle-channel conductanceChloride channelsCell membrane
2006
CFTR is required for PKA-regulated ATP sensitivity of Kir1.1 potassium channels in mouse kidney
Lu M, Leng Q, Egan ME, Caplan MJ, Boulpaep EL, Giebisch GH, Hebert SC. CFTR is required for PKA-regulated ATP sensitivity of Kir1.1 potassium channels in mouse kidney. Journal Of Clinical Investigation 2006, 116: 797-807. PMID: 16470247, PMCID: PMC1361349, DOI: 10.1172/jci26961.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphateAnimalsCurcuminCyclic AMP-Dependent Protein KinasesCystic Fibrosis Transmembrane Conductance RegulatorHydrogen-Ion ConcentrationKidneyMiceMice, Inbred C57BLMice, Inbred CFTRMice, TransgenicMutationOocytesPatch-Clamp TechniquesPotassium Channels, Inwardly RectifyingXenopus laevisConceptsFunctional switchCystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channelATP sensitivityEffects of CFTRThick ascending limbPotential physiological rolePKA activityRenal K channelsCystic fibrosisPhysiological roleSecretory channelsK channelsRenal tubule epithelial cellsApical membraneCFTRDeltaF508 mutationDistal nephron segmentsCl- channelsK homeostasisTubule epithelial cellsEpithelial cellsTAL cellsPotassium channelsK handlingGlibenclamide sensitivity