2008
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc
Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. American Journal Of Physiology. Renal Physiology 2008, 295: f371-f379. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesAnimalsBase SequenceExocytosisFamilial Hypophosphatemic RicketsFemaleHaplotypesHumansHypercalciuriaKidneyMaleMolecular Sequence DataMutation, MissenseOocytesOpossumsPhosphatesPolymorphism, Single NucleotideSodiumSodium-Phosphate Cotransporter ProteinsSodium-Phosphate Cotransporter Proteins, Type IIcThreonineXenopus laevisConceptsEncoding enhanced green fluorescent proteinHereditary hypophosphatemic ricketsNaPi-IIcSodium-phosphate cotransporterLoss of expressionAmino acid residuesSodium-phosphate cotransportGreen fluorescence proteinImportant functional roleComplete lossOpossum kidneyHypophosphatemic ricketsXenopus laevis oocytesNovel missense mutationPaternal alleleWild-typeFunctional analysisFluorescence proteinNH2 terminusAcid residuesApical patchesCompound heterozygous mutationsExpression plasmidFunctional roleRecurrent kidney stones
1997
Cloning and Characterization of the Vitamin D Receptor from Xenopus laevis*
Li Y, Bergwitz C, Jüppner H, Demay M. Cloning and Characterization of the Vitamin D Receptor from Xenopus laevis*. Endocrinology 1997, 138: 2347-2353. DOI: 10.1210/en.138.6.2347.Peer-Reviewed Original ResearchVitamin D response elementRat osteocalcin vitamin D responsive elementAmino acid residuesTransfected mammalian cellsMessenger RNA speciesVitamin D receptorNuclear receptor superfamilyOsteocalcin vitamin D response elementAmino acid levelsHuman vitamin D receptorRNA speciesXenopus tissuesD response elementDNA bindingMammalian cellsVertebrate speciesXenopus developmentAcid residuesNorthern analysisReceptor superfamilyIon homeostasisHormone bindingXenopusD receptorMessenger RNA