2016
Integrating GWAS and Co-expression Network Data Identifies Bone Mineral Density Genes SPTBN1 and MARK3 and an Osteoblast Functional Module
Calabrese GM, Mesner LD, Stains JP, Tommasini SM, Horowitz MC, Rosen CJ, Farber CR. Integrating GWAS and Co-expression Network Data Identifies Bone Mineral Density Genes SPTBN1 and MARK3 and an Osteoblast Functional Module. Cell Systems 2016, 4: 46-59.e4. PMID: 27866947, PMCID: PMC5269473, DOI: 10.1016/j.cels.2016.10.014.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBone and BonesBone DensityChromosome MappingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMiceMice, Inbred C57BLMice, KnockoutOsteoblastsOsteoporosisOsteoporotic FracturesPhenotypePolymorphism, Single NucleotideProtein Serine-Threonine KinasesSpectrinTranscriptomeConceptsGenome-wide association studiesCo-expression networkGWAS lociCausal genesBMD genome-wide association studiesIntegrating Genome-Wide Association StudyBMD GWAS lociGWAS associationsMapping genesGWAS dataAssociation studiesGenesLociFunctional modulesHeritable predictorSPTBN1Most associationsWide rangeNovel anatomic adaptation of cortical bone to meet increased mineral demands of reproduction
Macica CM, King HE, Wang M, McEachon CL, Skinner CW, Tommasini SM. Novel anatomic adaptation of cortical bone to meet increased mineral demands of reproduction. Bone 2016, 85: 59-69. PMID: 26825813, PMCID: PMC7429445, DOI: 10.1016/j.bone.2015.12.056.Peer-Reviewed Original ResearchConceptsHyp miceMineral homeostasisElevated serum PTHMaternal bone massMineralized trabecular boneIntestinal calcium absorptionCortical boneWild-type miceSerum PTHCalcitriol productionFemale patientsMaternal skeletonPostnatal nutritionCalcium absorptionBone resorptionFracture riskMaternal adaptationBone massBone fragilityMurine modelIntracortical porosityUnaffected miceMouse modelMMP-13Fetal development
2008
Phenotypic integration of skeletal traits during growth buffers genetic variants affecting the slenderness of femora in inbred mouse strains
Jepsen KJ, Hu B, Tommasini SM, Courtland HW, Price C, Cordova M, Nadeau JH. Phenotypic integration of skeletal traits during growth buffers genetic variants affecting the slenderness of femora in inbred mouse strains. Mammalian Genome 2008, 20: 21. PMID: 19082857, PMCID: PMC2650248, DOI: 10.1007/s00335-008-9158-1.Peer-Reviewed Original ResearchConceptsGenetic variantsSkeletal traitsFunctional interactionMatrix mineralizationCompensatory interactionsGenotype-phenotype relationshipsPhenotypic integrationAdult traitsLoss of functionBiological controlPrecise regulationMouse strainsAXB/BXASusceptibility genesInner bone surfaceTraitsEnvironmental variantsPostnatal growthNew insightsBone slendernessQuantitative expectationsVariantsGrowthSkeletal growthExpansion rate
2005
Genetic Variation in Structure‐Function Relationships for the Inbred Mouse Lumbar Vertebral Body*
Tommasini SM, Morgan TG, van der Meulen MCh, Jepsen KJ. Genetic Variation in Structure‐Function Relationships for the Inbred Mouse Lumbar Vertebral Body*. Journal Of Bone And Mineral Research 2005, 20: 817-827. PMID: 15824855, DOI: 10.1359/jbmr.041234.Peer-Reviewed Original ResearchMeSH KeywordsAnalysis of VarianceAnimalsBiomechanical PhenomenaBone and BonesFemaleGenetic VariationLumbar VertebraeMiceMice, Inbred C3HMice, Inbred C57BLMice, Inbred StrainsModels, AnatomicModels, BiologicalModels, GeneticMultivariate AnalysisPhenotypeSpecies SpecificityStress, MechanicalStructure-Activity RelationshipTensile StrengthTomography, X-Ray ComputedConceptsMechanical propertiesBone mechanical propertiesTrabecular bone tissueWhole bone mechanical propertiesMeasure of ductilityTotal deformationFailure loadVertebral mechanical propertiesBone tissueIsotropic voxel sizeBiomechanical analysisImaging systemPropertiesDuctilityStructure-function relationshipsVoxel sizeDeformationBV/TVStiffness