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
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