2025
Physiologic mechanisms underlying polycystic kidney disease
Boletta A, Caplan M. Physiologic mechanisms underlying polycystic kidney disease. Physiological Reviews 2025, 105: 1553-1607. PMID: 39938884, PMCID: PMC12174308, DOI: 10.1152/physrev.00018.2024.Peer-Reviewed Original ResearchPrimary ciliaPolycystic kidney diseaseTrafficking of proteinsHuman ciliopathiesExtracellular signalsMultiple genesKidney diseaseProtein productionMolecular basisCell biologyMonogenic disordersCyst formationGenesRenal epithelial cellsProteinCiliaBiochemical informationApical surfaceEpithelial cellsFunctional expressionPhysiological propertiesWealth of informationPhysiological mechanismsCellsFibrocystin
2021
Influence of vitamin D treatment on functional expression of drug disposition pathways in human kidney proximal tubule cells during simulated uremia
Tuey S, Atilano-Roque A, Charkoftaki G, Thurman J, Nolin T, Joy M. Influence of vitamin D treatment on functional expression of drug disposition pathways in human kidney proximal tubule cells during simulated uremia. Xenobiotica 2021, 51: 657-667. PMID: 33870862, PMCID: PMC12088830, DOI: 10.1080/00498254.2021.1909783.Peer-Reviewed Original ResearchConceptsHuman kidney proximal tubule epithelial cellsUraemic serumProtein expressionHuman kidney proximal tubule cellsVitamin D treatmentEffect of cholecalciferolProximal tubule epithelial cellsKidney proximal tubule epithelial cellsKidney proximal tubule cellsDrug transport pathwaysProximal tubule cellsDrug disposition pathwaysEffect of treatmentTubule epithelial cellsMajor vitamin DVitD treatmentVitamin DFunctional assessmentTubule cellsNM dosesEthanol vehicleFunctional expressionCYP enzymesMRNA expressionDisposition pathways
2020
A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane
Sizova D, Huang J, Akin E, Estacion M, Gomis-Perez C, Waxman S, Dib-Hajj S. A 49-residue sequence motif in the C terminus of Nav1.9 regulates trafficking of the channel to the plasma membrane. Journal Of Biological Chemistry 2020, 295: 1077-1090. DOI: 10.1016/s0021-9258(17)49917-0.Peer-Reviewed Original ResearchPlasma membraneC-terminusHEK293 cellsHigh-resolution live microscopyC-terminal motifHeterologous expression systemC-terminal chimerasHigh-throughput assaysSequence motifsCytoplasmic faceHeterologous systemsVoltage-gated sodium channel Nav1.9Live microscopyRecombinant expressionExpression systemLong motifsMechanistic basisFunctional expressionFunctional studiesTerminusLow functional expressionMotifChannel chimeraExpression levelsChimeras
2013
Functional Expression of Human NKCC1 from a Synthetic Cassette-Based cDNA: Introduction of Extracellular Epitope Tags and Removal of Cysteines
Somasekharan S, Monette MY, Forbush B. Functional Expression of Human NKCC1 from a Synthetic Cassette-Based cDNA: Introduction of Extracellular Epitope Tags and Removal of Cysteines. PLOS ONE 2013, 8: e82060. PMID: 24339991, PMCID: PMC3855340, DOI: 10.1371/journal.pone.0082060.Peer-Reviewed Original ResearchConceptsNa-K-Cl cotransporterEpitope tagYFP tagPlasma membraneMost animal cellsRemoval of cysteineOpen reading frameSilent restriction sitesHuman NKCC1Regulation of NKCC1Na-K-Cl cotransport activityHEK-293 cellsCellular homeostasisBiosynthetic machinerySynthetic cassetteAnimal cellsNovel cDNACysteine mutantsReading frameSynthetic cDNACysteine mutationsEndoplasmic reticulumFunctional expressionCotransport activityCDNA
2012
Functional Expression of MRP4 in the Ciliary Epithelium of the Eye
Pelis R, Coca-Prados M. Functional Expression of MRP4 in the Ciliary Epithelium of the Eye. The FASEB Journal 2012, 26: 694.10-694.10. DOI: 10.1096/fasebj.26.1_supplement.694.10.Peer-Reviewed Original ResearchFunctional expressionOrganic anion transportCiliary epitheliumAnion transportPara-aminohippurateMRP4 protein levelsCiliary body epithelial cellsHuman ciliary epitheliumCultured cellsFunctional assaysProtein 4Dose-dependent mannerProtein levelsCell linesEfflux pumpsHuman ciliary bodyUseful systemSimian virusEpithelial cellsWestern blottingIntracellular accumulationCiliary bodyMrp4 mRNAMRP4 expressionExpression
2009
T1744 Cell-Specific Functional Expression and Regulation of cAMP, Calcium and Acid-Stimulated Chloride and Bicarbonate Secretion in the Proximal Small Intestine
Jakab R, Collaco A, Ameen N. T1744 Cell-Specific Functional Expression and Regulation of cAMP, Calcium and Acid-Stimulated Chloride and Bicarbonate Secretion in the Proximal Small Intestine. Gastroenterology 2009, 136: a-570-a-571. DOI: 10.1016/s0016-5085(09)62625-1.Peer-Reviewed Original ResearchFunctional expression of the olfactory signaling system in the kidney
Pluznick JL, Zou DJ, Zhang X, Yan Q, Rodriguez-Gil DJ, Eisner C, Wells E, Greer CA, Wang T, Firestein S, Schnermann J, Caplan MJ. Functional expression of the olfactory signaling system in the kidney. Proceedings Of The National Academy Of Sciences Of The United States Of America 2009, 106: 2059-2064. PMID: 19174512, PMCID: PMC2644163, DOI: 10.1073/pnas.0812859106.Peer-Reviewed Original ResearchConceptsGlomerular filtration ratePlasma renin levelsMacula densa cellsCOX-2 expressionRenal distal nephronOlfactory G-proteinMDS cell linesOlfactory receptorsRenin levelsRenin secretionFiltration rateNNOS activityTubuloglomerular feedbackDistal nephronOlfactory epitheliumRenal tubulesGFR regulationAdenylate cyclaseG proteinsCell linesSensory roleKidneyFunctional expressionOlfactionExpression
2007
Role of Anion Transporter SLC26A6 (CFEX) in Prevention of Hyperoxaluria and Urolithiasis
Aronson P. Role of Anion Transporter SLC26A6 (CFEX) in Prevention of Hyperoxaluria and Urolithiasis. AIP Conference Proceedings 2007, 900: 141-148. DOI: 10.1063/1.2723570.Commentaries, Editorials and LettersProximal tubulesNull miceOxalate secretionPlasma oxalate concentrationIntestinal oxalate secretionCalcium oxalate urolithiasisFormate exchangeOxalate exchangePrevention of hyperoxaluriaHigh incidenceOxalate urolithiasisHyperoxaluriaCFEXApical membraneRenal brush border vesiclesNet absorptionMiceBrush border vesiclesTubulesUrolithiasisSecretionXenopus oocytesAnion transportersFunctional expression
2006
The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase
Kovacikova J, Winter C, Loffing-Cueni D, Loffing J, Finberg K, Lifton R, Hummler E, Rossier B, Wagner C. The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase. Kidney International 2006, 70: 1706-1716. PMID: 16985514, DOI: 10.1038/sj.ki.5001851.Peer-Reviewed Original ResearchMeSH KeywordsAcid-Base EquilibriumAmilorideAnimalsDiureticsEpithelial Sodium ChannelsFurosemideGene Expression RegulationGene Expression Regulation, EnzymologicHydrochlorothiazideHydrogen-Ion ConcentrationKidney Tubules, CollectingKidney Tubules, DistalMetabolic Clearance RateMiceMice, KnockoutNephronsProton-Translocating ATPasesWater-Electrolyte BalanceConceptsUrinary acidificationRenal clearance experimentsEffect of furosemideNormal urinary acidificationLumen-negative voltageNet acid excretionThick ascending limbFinal urinary acidificationKidney-specific inactivationENaC channelsClearance experimentsAcid excretionMouse modelAscending limbFurosemideDuct cellsProton secretionMiceExact localizationReabsorptionMain siteB1 subunitAlpha subunitTubulesFunctional expression
2005
Mosaic Analysis with Double Markers in Mice
Zong H, Espinosa JS, Su HH, Muzumdar MD, Luo L. Mosaic Analysis with Double Markers in Mice. Cell 2005, 121: 479-492. PMID: 15882628, DOI: 10.1016/j.cell.2005.02.012.Peer-Reviewed Original ResearchConceptsInterchromosomal recombinationCerebellar granule cell progenitorsGranule cell progenitorsHomologous chromosomesMosaic analysisChimeric geneSomatic cellsAxonal projectionsC-terminusGene knockoutCell lineagesN-terminusPostmitotic cellsGranule cellsCerebellar cortexNeuronal connectionsFunctional expressionCell progenitorsDouble markersConditional knockoutSmall populationSingle cellsSpecific sublayersTerminusMarkers
2004
Partial reconstitution of V(D)J rearrangement and lymphocyte development in RAG-deficient mice expressing inducible, tetracycline-regulated RAG transgenes
Shockett PE, Zhou S, Hong X, Schatz DG. Partial reconstitution of V(D)J rearrangement and lymphocyte development in RAG-deficient mice expressing inducible, tetracycline-regulated RAG transgenes. Molecular Immunology 2004, 40: 813-829. PMID: 14687938, DOI: 10.1016/j.molimm.2003.09.009.Peer-Reviewed Original ResearchConceptsPeripheral lymphoid organsIGK locusInducible gene expressionLymph nodesCell reconstitutionLymphoid organsTransgenic miceTRB locusTRD locusT-cell reconstitutionB-cell reconstitutionMammalian cellsRAG-deficient miceSignal endsTra locusRecombination signalsInducible activationGene expressionTCR beta chainFunctional expressionLymphocyte developmentLociRAG2 mRNALymphocyte reconstitutionTransgene
2003
Drosophila Gr5a encodes a taste receptor tuned to trehalose
Chyb S, Dahanukar A, Wickens A, Carlson JR. Drosophila Gr5a encodes a taste receptor tuned to trehalose. Proceedings Of The National Academy Of Sciences Of The United States Of America 2003, 100: 14526-14530. PMID: 14523229, PMCID: PMC304113, DOI: 10.1073/pnas.2135339100.Peer-Reviewed Original ResearchConceptsG protein-coupled receptor genesDrosophila S2 cell lineS2 cell lineFirst functional expressionTaste receptorsHeterologous expressionGenetic analysisFunctional expressionGr5aTaste sensillaReceptor geneCell linesGenesLabellar sensillaExpressionSensillaTaste neuronsReceptorsRecent studiesLabellumSensory responsesFliesNeuronsTrehaloseFamilyROMK is required for expression of the 70-pS K channel in the thick ascending limb
Lu M, Wang T, Yan Q, Wang W, Giebisch G, Hebert SC. ROMK is required for expression of the 70-pS K channel in the thick ascending limb. American Journal Of Physiology. Renal Physiology 2003, 286: f490-f495. PMID: 14600033, DOI: 10.1152/ajprenal.00305.2003.Peer-Reviewed Original ResearchConceptsThick ascending limbBartter's syndromeK dietK channelsAscending limbChannel activityApical K channelsFunctional expressionHypokalemic alkalosisTAL cellsNull miceSK activityHeterozygous miceHeterogeneous disorderMicePotassium recyclingROMKFunction mutationsSyndromeCritical subunitApical conductanceSalt absorptionLimbDietExpressionCalmodulin Binds to the C Terminus of Sodium Channels Nav1.4 and Nav1.6 and Differentially Modulates Their Functional Properties
Herzog RI, Liu C, Waxman SG, Cummins TR. Calmodulin Binds to the C Terminus of Sodium Channels Nav1.4 and Nav1.6 and Differentially Modulates Their Functional Properties. Journal Of Neuroscience 2003, 23: 8261-8270. PMID: 12967988, PMCID: PMC6740705, DOI: 10.1523/jneurosci.23-23-08261.2003.Peer-Reviewed Original ResearchConceptsVoltage-gated sodium channelsSodium channelsNeuronal sodium channelsCalcium-independent mechanismVGSC isoformsNeuronal plasticityCell excitabilityNav1.6 channelsNav1.6Overexpression of CaMCalcium-dependent mannerCalcium-independent mannerNav1.4Sodium channel Nav1.4Channel Nav1.4Functional expressionCurrent amplitude
2000
Differential localization of human nongastric H+-K+-ATPase ATP1AL1 in polarized renal epithelial cells
Reinhardt J, Grishin A, Oberleithner H, Caplan M. Differential localization of human nongastric H+-K+-ATPase ATP1AL1 in polarized renal epithelial cells. American Journal Of Physiology. Renal Physiology 2000, 279: f417-f425. PMID: 10966921, DOI: 10.1152/ajprenal.2000.279.3.f417.Peer-Reviewed Original ResearchConceptsApical plasma membranePlasma membraneRenal epithelial cellsIon pumpsPlasma membrane localizationConfocal immunofluorescence microscopyEpithelial cellsATPase beta subunitRenal epithelial cell lineMembrane localizationLow expression levelsEpithelial cell lineSurface biotinylationPump subunitsBeta subunitFunctional expressionStable transfectionLateral membranesMDCK cellsATP1AL1Immunofluorescence microscopyDifferential localizationSorting mechanismStable interactionExpression levelsThe Roles of Carbohydrate Chains of the β-Subunit on the Functional Expression of Gastric H+,K+-ATPase*
Asano S, Kawada K, Kimura T, Grishin A, Caplan M, Takeguchi N. The Roles of Carbohydrate Chains of the β-Subunit on the Functional Expression of Gastric H+,K+-ATPase*. Journal Of Biological Chemistry 2000, 275: 8324-8330. PMID: 10722662, DOI: 10.1074/jbc.275.12.8324.Peer-Reviewed Original ResearchConceptsAlpha/beta assemblyN-glycosylation sitesATPase activityBeta assemblyPutative N-glycosylation sitesCarbohydrate chainsAlpha/beta complexSingle carbohydrate chainCatalytic subunitSurface deliveryFunctional enzymeAsparagine residuesAlpha subunitΒ-subunitBeta complexDelivery mechanismFunctional expressionComplete lossATPaseAssemblyExpressionSubunits
1999
Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman’s syndrome
Kunchaparty S, Palcso M, Berkman J, Velázquez H, Desir G, Bernstein P, Reilly R, Ellison D. Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman’s syndrome. American Journal Of Physiology 1999, 277: f643-f649. PMID: 10516289, DOI: 10.1152/ajprenal.1999.277.4.f643.Peer-Reviewed Original ResearchConceptsWild-type cloneTransport proteinsWild-type proteinWild-type geneUnglycosylated proteinProtein processingNa-Cl cotransporterUnglycosylated formEndoplasmic reticulumMutant clonesFunctional expressionDisease mutationsDefective processingXenopus oocytesProteinClonesThiazide-sensitive Na-Cl cotransporterSodium uptakeMutationsOocytesMembrane stainingAutosomal recessive disorderWestern blot
1997
α-Latrotoxin Stimulates Exocytosis by the Interaction with a Neuronal G-Protein-Coupled Receptor
Krasnoperov V, Bittner M, Beavis R, Kuang Y, Salnikow K, Chepurny O, Little A, Plotnikov A, Wu D, Holz R, Petrenko A. α-Latrotoxin Stimulates Exocytosis by the Interaction with a Neuronal G-Protein-Coupled Receptor. Neuron 1997, 18: 925-937. PMID: 9208860, DOI: 10.1016/s0896-6273(00)80332-3.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBrain ChemistryCalciumCattleChromaffin GranulesCloning, MolecularCOS CellsDimerizationExocytosisGTP-Binding ProteinsMembrane ProteinsMolecular Sequence DataProtein PrecursorsQa-SNARE ProteinsRatsReceptors, Cell SurfaceReceptors, PeptideRecombinant ProteinsSensory Receptor CellsSequence AlignmentSequence Homology, Amino AcidSignal TransductionSpider VenomsTissue DistributionConceptsG protein-coupled receptorsAlpha-latrotoxin receptorNeuronal G protein-coupled receptorNovel orphan G-protein-coupled receptorI alphaCalcium-independent receptorSecretin receptor familyOrphan G protein-coupled receptorRegulation of neurosecretionEndogenous proteolytic cleavageMolecular cloningPrecursor polypeptideSerpentine receptorsCIRLFusion complexExtracellular bindingAlpha-LatrotoxinFunctional expressionReceptor familyProteolytic cleavagePresynaptic receptorsAffinity columnNeurotransmitter releaseStable complexesPresynaptic neurotoxins
1996
Functional expression of the cDNA encoded by the human ATP1AL1 gene
Grishin AV, Bevensee MO, Modyanov NN, Rajendran V, Boron WF, Caplan MJ. Functional expression of the cDNA encoded by the human ATP1AL1 gene. American Journal Of Physiology 1996, 271: f539-f551. PMID: 8853415, DOI: 10.1152/ajprenal.1996.271.3.f539.Peer-Reviewed Original ResearchConceptsHuman ATP1AL1 geneAcute loweringNH4Cl pulseUptake activityHEK-293 cellsSpontaneous intracellularMM ouabainProtein expressionCOS cellsATP1AL1Polyclonal antibodiesPH-sensitive dyeOuabainBeta-subunit cDNAExtrusion activityCellsK-ATPaseTransfection studiesSame cellsFunctional expressionBeta complexExpressionDependent ATPaseEndplasmic reticulumProteinMolecular Cloning and Functional Expression of the K-Cl Cotransporter from Rabbit, Rat, and Human A NEW MEMBER OF THE CATION-CHLORIDE COTRANSPORTER FAMILY*
Gillen C, Brill S, Payne J, Forbush B. Molecular Cloning and Functional Expression of the K-Cl Cotransporter from Rabbit, Rat, and Human A NEW MEMBER OF THE CATION-CHLORIDE COTRANSPORTER FAMILY*. Journal Of Biological Chemistry 1996, 271: 16237-16244. PMID: 8663127, DOI: 10.1074/jbc.271.27.16237.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBrainCarrier ProteinsCell LineChloridesCloning, MolecularDatabases, FactualDNA PrimersDNA, ComplementaryHumansKidneyKineticsModels, StructuralMolecular Sequence DataMultigene FamilyOpen Reading FramesPhylogenyPolymerase Chain ReactionPotassiumProtein Structure, SecondaryRabbitsRatsRecombinant ProteinsRubidiumSequence Homology, Amino AcidSequence Tagged SitesSymportersTransfectionConceptsNa-K-Cl cotransporterK-Cl cotransportK-ClRat brain cDNA libraryThiazide-sensitive Na-Cl cotransporterRate of 86Rb effluxBrain cDNA libraryBumetanide-sensitive Na-K-Cl cotransporterN-linked glycosylation sitesC-terminal regionSubstantial sequence homologyNa-Cl cotransporterNa-K-ClHEK 293) cellsUptake of 86RbNorthern blot analysisGenome sequenceCDNA libraryHydropathy analysisFunctional expressionSequence homologyReverse transcription-polymerase chain reactionHuman embryonic kidneySequence analysisHomologous cDNA probes
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