2017
Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice
Caballero D, Li Y, Fetene J, Ponsetto J, Chen A, Zhu C, Braddock DT, Bergwitz C. Intraperitoneal pyrophosphate treatment reduces renal calcifications in Npt2a null mice. PLOS ONE 2017, 12: e0180098. PMID: 28704395, PMCID: PMC5509111, DOI: 10.1371/journal.pone.0180098.Peer-Reviewed Original ResearchConceptsRenal calcificationCompared to WT miceElevated urinary excretionRenal stone diseaseNucleotide pyrophosphatase phosphodiesterase 1WT miceDietary calciumUrinary excretionIntraperitoneal administrationStone diseaseNull miceMouse mutationMiceCalcificationNephrocalcinosisNpt2aDisordersUnrecognized factorsContribution of genotypePresent studyPhosphodiesterase 1PPINpt2cPatientsNephrolithiasis
2011
An integrative approach to ortholog prediction for disease-focused and other functional studies
Hu Y, Flockhart I, Vinayagam A, Bergwitz C, Berger B, Perrimon N, Mohr SE. An integrative approach to ortholog prediction for disease-focused and other functional studies. BMC Bioinformatics 2011, 12: 357. PMID: 21880147, PMCID: PMC3179972, DOI: 10.1186/1471-2105-12-357.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDatabases, GeneticDiseaseDisease Models, AnimalEvolution, MolecularGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansConceptsGenome-wide association studiesIdentification of orthologsModel organismsDisease genesFunctions of human disease genesHuman disease-associated genesGenome-wide association study data setsOrthologous gene relationshipsFunction of orthologsHuman disease genesPercent amino acid identityAmino acid identityDisease-associated genesOnline Mendelian InheritancePossible orthologsOrthologous genesOrtholog predictionOrtholog pairsFunctional genomicsGene functionC. elegansOrthology predictionOrthologous pairsGene relationshipsS. cerevisiae
2008
Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors*
Uveges TE, Collin‐Osdoby P, Cabral WA, Ledgard F, Goldberg L, Bergwitz C, Forlino A, Osdoby P, Gronowicz GA, Marini JC. Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors*. Journal Of Bone And Mineral Research 2008, 23: 1983-1994. PMID: 18684089, PMCID: PMC2686922, DOI: 10.1359/jbmr.080804.Peer-Reviewed Original ResearchConceptsColony-forming unitsRANKL/OPG ratioOsteogenesis imperfectaWildtype valuesCompared to wildtype miceSevere osteogenesis imperfectaReal-time RT-PCRMouse model of OIIncreases osteoclast precursorsBone-resorbing osteoclastsOI therapyKnock-in modelIncreased osteoclastsOsteoclast increaseMarrow culturesWildtype miceModel of OITRACP stainingOsteoblast functionOsteoclast precursorsCellular mechanismsBrtl miceOsteoclastsRT-PCRTRACP(+
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