Featured Publications
Deletion of the transcription factor EBF1 in perivascular stroma disrupts skeletal homeostasis and precipitates premature aging of the marrow microenvironment
Nelson T, Tommasini S, Fretz J. Deletion of the transcription factor EBF1 in perivascular stroma disrupts skeletal homeostasis and precipitates premature aging of the marrow microenvironment. Bone 2024, 187: 117198. PMID: 39002837, PMCID: PMC11410106, DOI: 10.1016/j.bone.2024.117198.Peer-Reviewed Original ResearchEarly B cell factor 1Disrupt cytokine signallingDisrupt BMP signalingTranscription factor early B cell factor 1B cell factor 1Mesenchymal lineagesGlucocorticoid receptor expressionImpaired osteogenic differentiationLineages in vitroTranscription factorsEBF1 deletionsProgenitor mobilizationMyeloid skewingImpaired fracture repairCytokine signalingSmad1 phosphorylationAge-dependent lossBMP signalingReceptor expressionMarrow microenvironmentAdipogenic lineages in vitroHematopoietic nicheMultiple lineagesBone marrowB cellsBone marrow sinusoidal endothelial cells are a site of Fgf23 upregulation in a mouse model of iron deficiency anemia
Li X, Lozovatsky L, Tommasini S, Fretz J, Finberg K. Bone marrow sinusoidal endothelial cells are a site of Fgf23 upregulation in a mouse model of iron deficiency anemia. Blood Advances 2023, 7: 5156-5171. PMID: 37417950, PMCID: PMC10480544, DOI: 10.1182/bloodadvances.2022009524.Peer-Reviewed Original ResearchConceptsSinusoidal endothelial cellsEndothelial cellsBone marrowBM sectionsFGF23 upregulationFibroblast growth factor 23Iron deficiencyElevated serum erythropoietinFGF23 promoter activityBM endothelial cellsGrowth factor 23Vitamin D metabolismIron deficiency anemiaSystemic iron deficiencyKnockout mice exhibitBone marrow sinusoidal endothelial cellsNormal iron balanceNonanemic controlsChronic anemiaFactor 23D metabolismEndothelial cell populationErythropoietin treatmentDeficiency anemiaMouse modelIL‐1β Drives Production of FGF‐23 at the Onset of Chronic Kidney Disease in Mice
McKnight Q, Jenkins S, Li X, Nelson T, Marlier A, Cantley LG, Finberg KE, Fretz JA. IL‐1β Drives Production of FGF‐23 at the Onset of Chronic Kidney Disease in Mice. Journal Of Bone And Mineral Research 2020, 35: 1352-1362. PMID: 32154933, PMCID: PMC7363582, DOI: 10.1002/jbmr.4003.Peer-Reviewed Original ResearchConceptsChronic kidney diseaseOnset of CKDEarly chronic kidney diseaseFGF-23 expressionFGF-23Renal dysfunctionParathyroid hormoneIL-1βCongenital chronic kidney diseaseFGF-23 levelsSerum parathyroid hormoneGlomerular capillary tuftCongenital modelSerum phosphateIron bioavailabilitySystemic elevationVitamin DInflammatory cytokinesKidney diseaseEarly biomarkersIron statusMouse modelPhosphate imbalanceInitial upregulationCapillary tuft
2024
Optimized Methyl methacrylate embedding of small and large undecalcified bones.
Fretz J, Troiano N. Optimized Methyl methacrylate embedding of small and large undecalcified bones. MethodsX 2024, 13: 103046. DOI: 10.1016/j.mex.2024.103046.Peer-Reviewed Original ResearchLocally-Invasive Lytic Phosphaturic Mesenchymal Tumor of The C7 Vertebrae: A Case Report
Donnelley CA, Bergwitz C, Patel T, Fretz JA, Jeong S, et al. (2024) Locally-Invasive Lytic Phosphaturic Mesenchymal Tumor of The C7 Vertebrae: A Case Report. J Med Case Rep Case Series 5(12): https://doi.org/10.38207/JMCRCS/2024/SEP051202113Peer-Reviewed Case Reports and Technical Notes
2021
Bone Marrow Sinusoidal Endothelial Cells Are a Site of Fgf23 Upregulation in Iron Deficiency Anemia
Li X, Lozovatsky L, Fretz J, Finberg K. Bone Marrow Sinusoidal Endothelial Cells Are a Site of Fgf23 Upregulation in Iron Deficiency Anemia. Blood 2021, 138: 759. DOI: 10.1182/blood-2021-153329.Peer-Reviewed Original ResearchIron deficiency anemiaSinusoidal endothelial cellsBone marrow sinusoidal endothelial cellsNon-anemic controlsBone marrowFGF23 upregulationEndothelial cellsHepcidin elevationDeficiency anemiaFGF23 productionSerum erythropoietinChronic iron deficiency anemiaIron deficiencyFGF23 promoter activityTissue iron deficiencyIron-restricted anemiaFemurs of miceSystemic iron deficiencyBone marrow sectionsReporter alleleNormal iron balanceEndothelial cell subtypesTotal FGF23Phosphaturic hormoneBlood loss
2020
“Small” Intestinal Immunopathology Plays a “Big” Role in Lethal Cytokine Release Syndrome, and Its Modulation by Interferon-γ, IL-17A, and a Janus Kinase Inhibitor
Kale SD, Mehrkens BN, Stegman MM, Kastelberg B, Carnes H, McNeill RJ, Rizzo A, Karyala SV, Coutermarsh-Ott S, Fretz JA, Sun Y, Koff JL, Rajagopalan G. “Small” Intestinal Immunopathology Plays a “Big” Role in Lethal Cytokine Release Syndrome, and Its Modulation by Interferon-γ, IL-17A, and a Janus Kinase Inhibitor. Frontiers In Immunology 2020, 11: 1311. PMID: 32676080, PMCID: PMC7333770, DOI: 10.3389/fimmu.2020.01311.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCells, CulturedCoronavirus InfectionsCOVID-19Cytokine Release SyndromeCytokinesHLA-DR3 AntigenInterferon-gammaInterleukin-17Intestine, SmallJanus Kinase InhibitorsLymphocyte ActivationMiceMice, KnockoutNitrilesPandemicsPneumonia, ViralPyrazolesPyrimidinesT-Lymphocytes, Helper-InducerConceptsSmall bowel pathologyMultiple organ dysfunctionIL-17A deficiencySmall intestinal immunopathologyCytokine release syndromeToxic shock syndromeBowel pathologyIntestinal immunopathologyRelease syndromeChimeric antigen receptor T-cell therapySevere acute respiratory syndrome coronavirus 2Acute respiratory syndrome coronavirus 2Immune check point inhibitorsHLA-DR3 transgenic miceRespiratory syndrome coronavirus 2HLA-DR3 miceIFN-γ deficiencyCheck point inhibitorsSyndrome coronavirus 2T-cell therapyJAK 1/2 inhibitorJanus kinase inhibitorSmall intestinal tissueCoronavirus disease 2019T cell activationReporting Guidelines, Review of Methodological Standards, and Challenges Toward Harmonization in Bone Marrow Adiposity Research. Report of the Methodologies Working Group of the International Bone Marrow Adiposity Society
Tratwal J, Labella R, Bravenboer N, Kerckhofs G, Douni E, Scheller EL, Badr S, Karampinos DC, Beck-Cormier S, Palmisano B, Poloni A, Moreno-Aliaga MJ, Fretz J, Rodeheffer MS, Boroumand P, Rosen CJ, Horowitz MC, van der Eerden BCJ, Veldhuis-Vlug AG, Naveiras O. Reporting Guidelines, Review of Methodological Standards, and Challenges Toward Harmonization in Bone Marrow Adiposity Research. Report of the Methodologies Working Group of the International Bone Marrow Adiposity Society. Frontiers In Endocrinology 2020, 11: 65. PMID: 32180758, PMCID: PMC7059536, DOI: 10.3389/fendo.2020.00065.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsBone marrow adiposityBone marrow adipocytesMarrow adipocytesBone marrow adipogenesisSpecific MRI sequencesMarrow adiposityMarrow adipogenesisAnimal modelsRange of diseasesContrast-enhanced μCTStromal cell precursorsStudy outcomesConsensus opinionGene panelCell precursorsGold standardRT-qPCRMRI sequencesPotential roleMinimal reporting standardsPrecise reportingHistomorphometry
2019
Early B Cell Factor 1 (EBF1) Regulates Glomerular Development by Controlling Mesangial Maturation and Consequently COX-2 Expression
Nelson T, Velazquez H, Troiano N, Fretz JA. Early B Cell Factor 1 (EBF1) Regulates Glomerular Development by Controlling Mesangial Maturation and Consequently COX-2 Expression. Journal Of The American Society Of Nephrology 2019, 30: 1559-1572. PMID: 31405952, PMCID: PMC6727263, DOI: 10.1681/asn.2018070699.Peer-Reviewed Original ResearchConceptsCOX-2 expressionEarly B-cell factor 1COX-2Peripheral glomeruliProximal tubular massLineage cellsB cell factor 1Cell factor 1Factor 1Transcription factor early B cell factor 1Glomerular developmentCalcineurin/NFATRenal insufficiencyCell typesGlomerular cell typesGlomerular mesangiumHypoplastic kidneyTubular massFl/Knockout miceMetanephric developmentNFATc1 activationImpaired maturationMiceGlomeruli
2017
The Tmprss6-/- Mouse Model of Iron Refractory Iron Deficiency Anemia (IRIDA) Exhibits Disrupted Phosphate Homeostasis, Elevated Circulating FGF23 Levels, and Increased Fgf23 Expression in Bone Marrow
Xiuqi Li, Larisa Lozovatsky, Abitha Sukumaran, Steven Tommasini, Jackie A. Fretz, Karin E. Finberg; The Tmprss6-/- Mouse Model of Iron Refractory Iron Deficiency Anemia (IRIDA) Exhibits Disrupted Phosphate Homeostasis, Elevated Circulating FGF23 Levels, and Increased Fgf23 Expression in Bone Marrow. Blood 2017; 130 (Supplement 1): 228. doi: https://doi.org/10.1182/blood.V130.Suppl_1.228.228Peer-Reviewed Original ResearchBone marrow adipocytes
Horowitz MC, Berry R, Holtrup B, Sebo Z, Nelson T, Fretz JA, Lindskog D, Kaplan JL, Ables G, Rodeheffer MS, Rosen CJ. Bone marrow adipocytes. Adipocyte 2017, 6: 193-204. PMID: 28872979, PMCID: PMC5638373, DOI: 10.1080/21623945.2017.1367881.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsBone marrow adipocytesBone marrowMarrow adipocytesDistinct adipose depotsAdipose tissue increasesWhole-body metabolismHuman bone marrowAdipose depotsAdipose tissueBeige adipocytesBody metabolismMarrowLittle functional significanceFunctional significanceAdipocytesCell populationsTissue increasesInduction signalRecent dataCellsAdipokines
2016
Chapter 20 Marrow Adipose Tissue and its Interactions with the Skeletal, Hematopoietic, and Immune Systems
Berry R, Fretz J, MacDougald O, Klibansky A, Rosen C, Rodeheffer M, Horowitz M. Chapter 20 Marrow Adipose Tissue and its Interactions with the Skeletal, Hematopoietic, and Immune Systems. 2016, 345-352. DOI: 10.1016/b978-0-12-800571-2.00020-7.Chapters
2015
Marrow Adipose Tissue and its Interactions with the Skeletal, Hematopoietic, and Immune Systems
Berry R, Fretz JA, MacDougald O, Klibanski A, Rosen CJ, Rodeheffer M, Horowitz MC. (2015). Osteoimmunology: Interactions of the Immune and Skeletal Systems, 2nd edition. Elsevier 345-352. ISBN: 978-0-12-800571-2Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
2014
Early B Cell Factor 1 Regulates Adipocyte Morphology and Lipolysis in White Adipose Tissue
Gao H, Mejhert N, Fretz JA, Arner E, Lorente-Cebrián S, Ehrlund A, Dahlman-Wright K, Gong X, Strömblad S, Douagi I, Laurencikiene J, Dahlman I, Daub CO, Rydén M, Horowitz MC, Arner P. Early B Cell Factor 1 Regulates Adipocyte Morphology and Lipolysis in White Adipose Tissue. Cell Metabolism 2014, 19: 981-992. PMID: 24856929, PMCID: PMC4109056, DOI: 10.1016/j.cmet.2014.03.032.Peer-Reviewed Original ResearchAdipocytesAdipogenesisAdipose Tissue, WhiteAdiposityAnimalsCells, CulturedDiabetes MellitusDiet, High-FatFemaleGene ExpressionHumansHypertrophyInflammationInsulin ResistanceLipolysisMaleMiceMice, Inbred C57BLMice, KnockoutRNA InterferenceRNA, Small InterferingTrans-ActivatorsTumor Necrosis Factor-alphaChapter Seven Use of Osmium Tetroxide Staining with Microcomputerized Tomography to Visualize and Quantify Bone Marrow Adipose Tissue In Vivo
Scheller EL, Troiano N, VanHoutan JN, Bouxsein MA, Fretz JA, Xi Y, Nelson T, Katz G, Berry R, Church CD, Doucette CR, Rodeheffer MS, MacDougald OA, Rosen CJ, Horowitz MC. Chapter Seven Use of Osmium Tetroxide Staining with Microcomputerized Tomography to Visualize and Quantify Bone Marrow Adipose Tissue In Vivo. Methods In Enzymology 2014, 537: 123-139. PMID: 24480344, PMCID: PMC4097010, DOI: 10.1016/b978-0-12-411619-1.00007-0.Peer-Reviewed Original ResearchConceptsStromal vascular fractionBone marrowAdipose tissueBone marrow adipose tissueWhite adipose tissue depotsMicrocomputerized tomographyAdipose tissue depotsMarrow recoveryDrug treatmentMedullary canalTissue depotsMetabolic diseasesVascular fractionStromal cellsMarrow fatEndothelial cellsAdipocyte progenitorsMature adipocytesLong bonesMAT volumeAdipocytesStainingOsmium tetroxide stainingHistochemical stainingConventional quantitation
2013
Early B-cell factor 1 is an essential transcription factor for postnatal glomerular maturation
Fretz JA, Nelson T, Velazquez H, Xi Y, Moeckel GW, Horowitz MC. Early B-cell factor 1 is an essential transcription factor for postnatal glomerular maturation. Kidney International 2013, 85: 1091-1102. PMID: 24172684, PMCID: PMC4006322, DOI: 10.1038/ki.2013.433.Peer-Reviewed Original ResearchMeSH KeywordsAge FactorsAlbuminuriaAnimalsBlood Urea NitrogenCell DifferentiationCells, CulturedGene Expression Regulation, DevelopmentalGenotypeGlomerular Filtration RateKidney GlomerulusMice, 129 StrainMice, Inbred C57BLMice, KnockoutOrganogenesisPhenotypePodocytesSignal TransductionTime FactorsTrans-ActivatorsVascular Endothelial Growth Factor AConceptsEarly B-cell factor 1B cell factor 1Transcription factorsNovel roleTranscription factor early B cell factor 1Expression of Ebf1Essential transcription factorFactor 1Podocyte maturationMesenchymal progenitorsB cell maturationProper maturationBlood urea nitrogen levelsElevated blood urea nitrogen levelsWild-type control miceGlomerular filtration rateVascular endothelial growth factor AGlomerular maturationUrea nitrogen levelsGrowth factor ARenal developmentEBF1Factor AGlomerular developmentNephron maturation
2012
Sclerostin: A new mediator of crosstalk between the skeletal and immune systems*
Horowitz MC, Fretz JA. Sclerostin: A new mediator of crosstalk between the skeletal and immune systems*. Journal Of Bone And Mineral Research 2012, 27: 1448-1450. PMID: 22706900, DOI: 10.1002/jbmr.1672.Commentaries, Editorials and Letters
2011
Adipocyte Lineage Cells Contribute to the Skin Stem Cell Niche to Drive Hair Cycling
Festa E, Fretz J, Berry R, Schmidt B, Rodeheffer M, Horowitz M, Horsley V. Adipocyte Lineage Cells Contribute to the Skin Stem Cell Niche to Drive Hair Cycling. Cell 2011, 146: 761-771. PMID: 21884937, PMCID: PMC3298746, DOI: 10.1016/j.cell.2011.07.019.Peer-Reviewed Original ResearchConceptsAdipocyte lineage cellsStem cell nicheStem cell activityLineage cellsCell nicheSkin stem cell nichesStem cell functionEpithelial stem cell nicheStem cell activationEpithelial stem cell functionSkin stem cellsTissue homeostasisNiche cellsFunctional analysisAdipogenic cellsSkin homeostasisMammalian skinTransplantation experimentsStem cellsPrecursor cellsHair cyclingCell functionAdipocyte cellsNicheFunctional tissue
2010
How B cells influence bone biology in health and disease
Horowitz MC, Fretz JA, Lorenzo JA. How B cells influence bone biology in health and disease. Bone 2010, 47: 472-479. PMID: 20601290, PMCID: PMC2941392, DOI: 10.1016/j.bone.2010.06.011.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsHematopoietic stem cellsB cell differentiationCell differentiationTranscription factorsBone cellsImportant regulatory interactionsBone phenotypeRegulatory interactionsB cellsTemporal mannerSupportive nicheStem cellsAdaptive immune systemBone biologyDifferentiationRANKL-RANKActivated B cellsEndosteal bone surfaceNormal bone remodelingNicheSpecific responsesPhenotypeCellsImportant roleImmune systemAltered Metabolism and Lipodystrophy in the Early B-Cell Factor 1-Deficient Mouse
Fretz JA, Nelson T, Xi Y, Adams DJ, Rosen CJ, Horowitz MC. Altered Metabolism and Lipodystrophy in the Early B-Cell Factor 1-Deficient Mouse. Endocrinology 2010, 151: 1611-1621. PMID: 20172967, PMCID: PMC2850234, DOI: 10.1210/en.2009-0987.Peer-Reviewed Original ResearchMeSH KeywordsAdiponectinAdipose TissueAnimalsBlood GlucoseBone MarrowCalorimetryCCAAT-Enhancer-Binding Protein-betaEnergy MetabolismGlucagonInsulinLeptinLipid MetabolismLipodystrophyMiceMice, KnockoutPPAR gammaReverse Transcriptase Polymerase Chain ReactionRNA, MessengerStatistics, NonparametricTrans-ActivatorsConceptsSerum glucose levelsWhite adipose tissueMarrow adiposityGlucose levelsAdipose tissueLevels of leptinBone formation rateAdipose tissue depositionNumber of osteoblastsWk of ageAltered bone morphologySerum osteocalcinInsulin levelsGlucose challengeIP injectionPancreatic hormonesLittermate controlsLipid depositionBone marrowSerum analysisBrown adiposeTissue depositionAltered metabolismMiceAdiposity