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 range
2015
Deletion of Rac in Mature Osteoclasts Causes Osteopetrosis, an Age‐Dependent Change in Osteoclast Number, and a Reduced Number of Osteoblasts In Vivo
Zhu M, Sun B, Saar K, Simpson C, Troiano N, Dallas SL, Tiede‐Lewis L, Nevius E, Pereira JP, Weinstein RS, Tommasini SM, Insogna KL. Deletion of Rac in Mature Osteoclasts Causes Osteopetrosis, an Age‐Dependent Change in Osteoclast Number, and a Reduced Number of Osteoblasts In Vivo. Journal Of Bone And Mineral Research 2015, 31: 864-873. PMID: 26496249, PMCID: PMC4826801, DOI: 10.1002/jbmr.2733.Peer-Reviewed Original ResearchConceptsDual-energy X-ray absorptiometryBone mineral densityDKO miceParathyroid hormoneOsteoclast numberDKO animalsSerum cross-linked C-telopeptideCross-linked C-telopeptideDaily parathyroid hormoneTrabecular bone massX-ray absorptiometryMetaphyseal trabecular boneNormal differentiation markersAge-dependent changesC-telopeptideMineral densityBone massBone densityActin ring formationSkeletal metabolismOsteoblast numberTooth eruptionResorptive activityNormal responseFocal disruptionPeriosteal PTHrP Regulates Cortical Bone Remodeling During Fracture Healing
Wang M, Nasiri AR, Broadus AE, Tommasini SM. Periosteal PTHrP Regulates Cortical Bone Remodeling During Fracture Healing. Bone 2015, 81: 104-111. PMID: 26164475, PMCID: PMC4641003, DOI: 10.1016/j.bone.2015.07.008.Peer-Reviewed Original ResearchConceptsFracture healingPTHrP expressionCKO miceCortical bone surfaceFracture repairTibial fracture surgeryRole of PTHrPHormone-related proteinTibial fracture modelCartilaginous callus formationConditional knockout miceBone surfaceCortical bone remodelingType I receptorCD1 controlsFracture surgeryCD1 miceKnockout miceInitial genetic evidencePTHrPOsteoblastic activityBone remodelingMiceBone mineralizationI receptor