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
2001
Wnts differentially regulate colony growth and differentiation of chondrogenic rat calvaria cells
Bergwitz C, Wendlandt T, Kispert A, Brabant G. Wnts differentially regulate colony growth and differentiation of chondrogenic rat calvaria cells. Biochimica Et Biophysica Acta 2001, 1538: 129-140. PMID: 11336784, DOI: 10.1016/s0167-4889(00)00123-3.Peer-Reviewed Original ResearchConceptsChondrogenic cell lineReporter gene expressionWnt effectsGene expressionCell linesWnt-7aChondrogenic differentiationWnt-5aGreen fluorescence proteinProtein kinase C.Protein kinase CFrizzled-related proteinsCollagen type II promoterLimb patterningSignal transductionEmbryonic developmentRat calvaria cellsWnt familyType II promoterNIH3T3 cellsReporter systemCartilage-specific proteoglycansFluorescence proteinCartilage differentiationKinase C.