2024
Mitofusin 2 plays a critical role in maintaining the functional integrity of the neuromuscular-skeletal axis
Zhu M, Zeiss C, Hamrick M, Weinstein R, Sun B, Brotto M, Liu X, Siu E, Huttner A, Tommasini S, Simpson C, Insogna K. Mitofusin 2 plays a critical role in maintaining the functional integrity of the neuromuscular-skeletal axis. Bone 2024, 184: 117086. PMID: 38552893, DOI: 10.1016/j.bone.2024.117086.Peer-Reviewed Original ResearchConceptsDeletion of Mfn2Bone mineral densityMitofusin 2Reduced expression of Mfn2Myofiber atrophySpinal cordTransgenic mice expressing CreMice expressing CreNon-redundant roleSkeletal muscle histologyLumbar spinal cordTrabecular bone massLean body massExpression of Mfn2Mitochondrial reticulumMFN2 geneDisruption of cellular architectureImpaired osteoblast differentiationOsteoblast lineage commitmentMfn2Mitochondrial sizeMitofusinMineral densityCo-expressionDisorganized sarcomeres
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
2014
The Transcription Factor T-box 3 Regulates Colony-stimulating Factor 1-dependent Jun Dimerization Protein 2 Expression and Plays an Important Role in Osteoclastogenesis*
Yao C, Yao GQ, Sun BH, Zhang C, Tommasini SM, Insogna K. The Transcription Factor T-box 3 Regulates Colony-stimulating Factor 1-dependent Jun Dimerization Protein 2 Expression and Plays an Important Role in Osteoclastogenesis*. Journal Of Biological Chemistry 2014, 289: 6775-6790. PMID: 24394418, PMCID: PMC3945339, DOI: 10.1074/jbc.m113.499210.Peer-Reviewed Original Research
2011
Changes in intracortical microporosities induced by pharmaceutical treatment of osteoporosis as detected by high resolution micro-CT
Tommasini SM, Trinward A, Acerbo AS, De Carlo F, Miller LM, Judex S. Changes in intracortical microporosities induced by pharmaceutical treatment of osteoporosis as detected by high resolution micro-CT. Bone 2011, 50: 596-604. PMID: 22226688, PMCID: PMC3278519, DOI: 10.1016/j.bone.2011.12.012.Peer-Reviewed Original ResearchConceptsAge-matched controlsUntreated OVXEstrogen withdrawalSix-month-old female SpragueDifferent osteoporosis treatmentsUntreated OVX ratsStart of treatmentEndosteal regionOsteocyte lacunar sizeEffect of treatmentOVX ratsOsteoporosis treatmentFemale SpraguePTH treatmentDawley ratsCurrent treatmentNumber of lacunaeMedial cortexOsteocyte lacunaePharmaceutical treatmentOVXMedial quadrantAlendronateBone strengthFemoral diaphysis
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 rateBiological Co‐Adaptation of Morphological and Composition Traits Contributes to Mechanical Functionality and Skeletal Fragility1*
Tommasini SM, Nasser P, Hu B, Jepsen KJ. Biological Co‐Adaptation of Morphological and Composition Traits Contributes to Mechanical Functionality and Skeletal Fragility1*. Journal Of Bone And Mineral Research 2008, 23: 236-246. PMID: 17922614, PMCID: PMC2665697, DOI: 10.1359/jbmr.071014.Peer-Reviewed Original Research