2009
Defective O-Glycosylation due to a Novel Homozygous S129P Mutation Is Associated with Lack of Fibroblast Growth Factor 23 Secretion and Tumoral Calcinosis
Bergwitz C, Banerjee S, Abu-Zahra H, Kaji H, Miyauchi A, Sugimoto T, Jüppner H. Defective O-Glycosylation due to a Novel Homozygous S129P Mutation Is Associated with Lack of Fibroblast Growth Factor 23 Secretion and Tumoral Calcinosis. The Journal Of Clinical Endocrinology & Metabolism 2009, 94: 4267-4274. PMID: 19837926, PMCID: PMC2775647, DOI: 10.1210/jc.2009-0961.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAmino Acid SubstitutionAnimalsBase SequenceCalcinosisCarrier StateChlorocebus aethiopsCodonCOS CellsDNA PrimersExonsFibroblast Growth Factor-23Fibroblast Growth FactorsGlycosylationHomozygoteHumansHypophosphatemia, FamilialMolecular Sequence DataNeoplasmsPolymorphism, Single NucleotideProlineSerineConceptsExpression vectors encoding wild-typeSerine to prolineHomozygous mutationFraction of lysatesCOS-7 cellsGlycoprotein fractionDefective O-glycosylationMutant hormoneO-glycosylationProtein speciesExon 2Poor secretionCOS-7Western blot analysisGenetic causeCodon 129Hyperphosphatemic tumoral calcinosisMutationsWild-typeFGF23 mutationsAssociated with lackBlot analysisCarriers in vivoFibroblast growth factorLysates
2004
Brittle IV Mouse Model for Osteogenesis Imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength*
Kozloff KM, Carden A, Bergwitz C, Forlino A, Uveges TE, Morris MD, Marini JC, Goldstein SA. Brittle IV Mouse Model for Osteogenesis Imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength*. Journal Of Bone And Mineral Research 2004, 19: 614-622. PMID: 15005849, DOI: 10.1359/jbmr.040111.Peer-Reviewed Original ResearchMeSH KeywordsAdaptation, PhysiologicalAgingAmino Acid SubstitutionAnatomy, Cross-SectionalAnimalsBone DensityBone DevelopmentBone MatrixCollagen Type IDisease Models, AnimalFemurMaleMiceMice, TransgenicMineralsOsteogenesis ImperfectaRadiographySpectrum Analysis, RamanStress, MechanicalTensile StrengthConceptsMatrix material propertiesWhole bone geometryMaterial propertiesWhole bone strengthOsteogenesis imperfectaMouse modelBone geometryBone strengthMatrix compositesMechanical testsStiffness increaseType IV osteogenesis imperfectaMicroCT dataInvestigate therapeutic interventionsGeometric parametersMechanism independent of changesMouse model of OIRaman spectroscopic resultsMonths of ageMechanically tested to failureKnock-in modelOI patientsRaman spectroscopyGeometric resistanceIndependent of changes