2012
Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations
Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H. Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e1978-e1986. PMID: 22865906, PMCID: PMC3462928, DOI: 10.1210/jc.2012-1279.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceAnimalsFamilial Hypophosphatemic RicketsFamily HealthFanconi SyndromeFemaleGenes, RecessiveGenetic VariationGenome-Wide Association StudyGlucose Transporter Type 1Glucose Transporter Type 2HumansHypercalciuriaHypophosphatemia, FamilialKidney Tubules, ProximalMaleMiceMice, TransgenicMolecular Sequence DataOocytesPedigreeRicketsSodium-Phosphate Cotransporter Proteins, Type IIaSodium-Phosphate Cotransporter Proteins, Type IIcXenopus laevisConceptsGlucose transporter 2Sequence analysis of candidate genesCandidate genesSequence analysisGenome-wide linkage scanAnalysis of candidate genesFanconi-Bickel syndromeProximal renal tubulopathyRenal tubulopathyNucleotide sequence analysisGenetic mappingHomozygous mutationPhosphate importLinkage scanMolecular basisXenopus oocytesTransport of glucoseGLUT2 mutationsMolecular levelGenesGlucose transportUrinary phosphate excretionAllelic variantsPhosphate homeostasisDirect nucleotide sequence analysis
2008
Genetic Evidence of Serum Phosphate-Independent Functions of FGF-23 on Bone
Sitara D, Kim S, Razzaque MS, Bergwitz C, Taguchi T, Schüler C, Erben RG, Lanske B. Genetic Evidence of Serum Phosphate-Independent Functions of FGF-23 on Bone. PLOS Genetics 2008, 4: e1000154. PMID: 18688277, PMCID: PMC2483943, DOI: 10.1371/journal.pgen.1000154.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBone and BonesBone DensityCalcification, PhysiologicCells, CulturedFibroblast Growth Factor-23Fibroblast Growth FactorsGene ExpressionHypophosphatemiaMiceMice, Inbred C57BLMice, KnockoutMuscle, SkeletalOsteoblastsPhenotypePhosphatesSerumSkullSodium-Phosphate Cotransporter Proteins, Type IIaUrineConceptsFGF-23 geneFgf-23-/- micePhosphate homeostasisGenetic evidenceFgf-23-/-Regulation of phosphate homeostasisCrucial biological importanceFirst genetic evidenceSystemic phosphate homeostasisSkeletal mineralizationCellular functionsDouble mutantNew mouse lineMaster regulatorProtein abundanceGenomic ablationMolecular mechanismsDouble mutant miceChondrocyte differentiationTargeted disruptionSkeletal phenotypeBiological importanceGenesEnergy metabolismHomeostasis
2000
A versatile chondrogenic rat calvaria cell line R-tTA-24 that permits tetracycline-regulated gene expression
Bergwitz C, Wendlandt T, Pötter E, Glomb I, Gras K, von zur Mühlen A, Brabant G. A versatile chondrogenic rat calvaria cell line R-tTA-24 that permits tetracycline-regulated gene expression. Histochemistry And Cell Biology 2000, 113: 145-150. PMID: 10766267, DOI: 10.1007/s004180050017.Peer-Reviewed Original ResearchConceptsTetracycline-regulated gene expressionGene expressionTetracycline-regulated gene expression systemStable transfectionChondrogenic differentiationGene expression systemGene of interestBasis of phenotypeTetracycline transactivatorGenetic manipulationHygromycin selectionExpression systemCartilage-specific proteoglycansNeomycin selectionFlexible genetic manipulationLuciferase activityType II expressionCell linesAlcian blue stainingDifferentiationCollagen type II expressionTransfectionExpressionBlue stainingGenes