ClaudinsClaudin-3Claudin-1Claudin-4Point MutationMutation, MissenseTight JunctionsClaudin-5MutationFrameshift MutationMembrane ProteinsGerm-Line MutationPedigreeOccludinMutation RateBase SequenceMolecular Sequence DataExonsHeterozygoteAmino Acid SubstitutionPolymerase Chain ReactionAmino Acid SequenceDNA Mutational AnalysisAllelesZonula Occludens-1 ProteinPolymorphism, Single-Stranded ConformationalMutagenesis, Site-DirectedCell LineCodon, NonsenseGenotypeHomozygoteMutagenesisSequence Analysis, DNAPhenotypeProtein Structure, TertiaryGenes, RecessiveGene DeletionDNA PrimersZonula Occludens-2 ProteinClaudin-2Blood-Testis BarrierSequence DeletionGenes, DominantGenetic TestingSequence Homology, Amino AcidEscherichia coliSuppression, GeneticPermeabilityModels, MolecularChromosome MappingTranscription FactorsRNA, MessengerCodonProtein BindingSequence AlignmentTransfectionBinding SitesEpithelial CellsGitelman SyndromeDNA-Binding ProteinsGenetic Complementation TestHypercalciuriaElectric ImpedanceTissue EmbeddingNephrocalcinosisImmunohistochemistryFounder EffectReverse Transcriptase Polymerase Chain ReactionGenes, p53TakifuguSyndromeCloning, MolecularDNAMutant ProteinsGenetic LinkageGenetic Predisposition to DiseaseCells, CulturedSaccharomyces cerevisiaePromoter Regions, GeneticConsanguinityGene Expression RegulationBacterial ProteinsRecombinant ProteinsPlasmidsModels, GeneticSignal TransductionGene Expression Regulation, DevelopmentalGenes, LethalDogsNuclear ProteinsRecombinant Fusion ProteinsHeterozygote DetectionExomePolymorphism, GeneticCell Membrane PermeabilityDNA, MitochondrialProto-Oncogene Proteins B-rafGenes, BRCA1Mutagenesis, InsertionalProtein Isoforms