2001
Human Hypertension Caused by Mutations in WNK Kinases
Wilson F, Disse-Nicodème S, Choate K, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford D, Lipkin G, Achard J, Feely M, Dussol B, Berland Y, Unwin R, Mayan H, Simon D, Farfel Z, Jeunemaitre X, Lifton R. Human Hypertension Caused by Mutations in WNK Kinases. Science 2001, 293: 1107-1112. PMID: 11498583, DOI: 10.1126/science.1062844.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceChromosome MappingChromosomes, Human, Pair 12Chromosomes, Human, Pair 17CytoplasmFemaleGene Expression Regulation, EnzymologicGenetic LinkageHumansHypertensionIntercellular JunctionsIntracellular Signaling Peptides and ProteinsIntronsKidney Tubules, CollectingKidney Tubules, DistalMaleMembrane ProteinsMicroscopy, FluorescenceMinor Histocompatibility AntigensMolecular Sequence DataMutationMutation, MissensePedigreePhosphoproteinsProtein Serine-Threonine KinasesPseudohypoaldosteronismSequence DeletionSignal TransductionWNK Lysine-Deficient Protein Kinase 1Zonula Occludens-1 ProteinConceptsMajor public health problemPublic health problemRenal salt reabsorptionAntihypertensive drugsHuman hypertensionUnknown causeDistal nephronKidney segmentsPseudohypoaldosteronism type IIHealth problemsSalt reabsorptionHypertensionWNK1 expressionNew targetsWNK kinasesTight junctionsType IISerine-threonine kinaseIntronic deletionWNK4WNK familyMutationsWNK1KinaseExcretion
1999
Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg2+ Resorption
Simon D, Lu Y, Choate K, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton R. Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg2+ Resorption. Science 1999, 285: 103-106. PMID: 10390358, DOI: 10.1126/science.285.5424.103.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceCalciumChromosomes, Human, Pair 3ClaudinsCloning, MolecularFemaleGenes, RecessiveHomeostasisHumansKidney DiseasesKidney TubulesLoop of HenleMagnesiumMagnesium DeficiencyMaleMembrane ProteinsMolecular Sequence DataMutationPedigreePhysical Chromosome MappingTight JunctionsConceptsParacellin-1Junction proteinsTight junction proteinsTight junctionsParacellular conductancePositional cloningHuman genesParacellular Mg2Regulated fluxHuman diseasesClaudin familyRenal tight junction proteinBasolateral surfaceProteinRenal Mg2Specific moleculesParacellular fluxParacellular permeabilityEssential componentCellsCloningTranscellular passageGenesConductanceThick ascending limb