2014
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, , Paller A, Choate K. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. Journal Of Investigative Dermatology 2014, 135: 1540-1547. PMID: 25398053, PMCID: PMC4430428, DOI: 10.1038/jid.2014.485.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceCell MembraneChildChild, PreschoolConnexin 43ConnexinsCraniofacial AbnormalitiesDisease ProgressionErythrokeratodermia VariabilisExomeEye AbnormalitiesFemaleFoot Deformities, CongenitalGolgi ApparatusHeLa CellsHumansImmunohistochemistryMaleMolecular Sequence DataMutagenesis, Site-DirectedMutationPhenotypeSequence Analysis, DNASequence Homology, Amino AcidSkin DiseasesSyndactylyTooth AbnormalitiesConceptsSkin diseasesGJA1 mutationsErythrokeratodermia variabilis et progressivaOculodentodigital dysplasiaProgressive skin diseaseDe novo missense mutationsNovo missense mutationCutaneous findingsDominant de novo mutationsSkin disordersGap junction proteinDe novo mutationsBarrier functionConnexin 43Exome sequencingJunction proteinsPalmoplantar keratodermaDysplasiaGJA1Novo mutationsDiseaseMissense mutationsDifferent mutationsEpidermal homeostasisMembrane localization
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