Featured Publications
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Finberg KE, Heeney MM, Campagna DR, Aydınok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature Genetics 2008, 40: 569-571. PMID: 18408718, PMCID: PMC3104019, DOI: 10.1038/ng.130.Peer-Reviewed Original ResearchConceptsIron-refractory iron deficiency anemiaIron deficiency anemia refractoryChronic blood lossOral iron therapyInadequate dietary intakeIron deficiency anemiaIron regulatory hormone hepcidinSystemic iron homeostasisAnemia refractoryIron therapyBlood lossDeficiency anemiaDietary intakeType II transmembrane serine proteaseTransmembrane serine proteaseHormone hepcidinIron deficiencyGermline mutationsTMPRSS6Iron homeostasisSerine proteasesAnemiaTherapyHepcidinMutations
2014
Iron-Refractory Iron Deficiency Anemia (IRIDA)
Heeney MM, Finberg KE. Iron-Refractory Iron Deficiency Anemia (IRIDA). Hematology/Oncology Clinics Of North America 2014, 28: 637-652. PMID: 25064705, DOI: 10.1016/j.hoc.2014.04.009.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsIron deficiency anemiaIron-refractory iron deficiency anemiaDeficiency anemiaChronic blood lossOral iron supplementationParenteral iron therapyInadequate dietary intakeSingle clinical entitySystemic iron homeostasisIron therapyBlood lossClinical featuresClinical entityIron supplementationDietary intakeAnemiaMultiple family membersCommon global problemTMPRSS6 geneRecent genetic studiesFamily membersIron homeostasisEtiologyTherapyIntake
2013
Regulation of systemic iron homeostasis
Finberg KE. Regulation of systemic iron homeostasis. Current Opinion In Hematology 2013, 20: 208-214. PMID: 23426198, DOI: 10.1097/moh.0b013e32835f5a47.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsSystemic iron balanceMolecular mechanismsBone morphogenetic protein (BMP) type IHypoxia-inducible factor (HIF) pathwayInducible factor pathwayProtein type IHepcidin synthesisIron balanceBMP pathwayTransferrin receptor 2Systemic iron homeostasisCapacity of erythropoietinIron homeostasisComplex biologyNonredundant roleTissue culture systemHepcidin levelsInfectious stimuliIron storesFactor pathwayDietary ironErythropoietic activityReceptor 2PathwayAnimal modelsStriking the target in iron overload disorders
Finberg KE. Striking the target in iron overload disorders. Journal Of Clinical Investigation 2013, 123: 1424-1427. PMID: 23524962, PMCID: PMC3613936, DOI: 10.1172/jci68889.Commentaries, Editorials and LettersConceptsIron overload disordersOverload disordersBody iron storesAdministration of antisenseSystemic iron homeostasisIron storesClinical conditionsMouse modelIron balanceHereditary hemochromatosisDisease severityHepatic proteinsΒ-thalassemiaIron homeostasisMajor siteDisordersTMPRSS6TherapyHemochromatosisLiverAdministrationSeverity
2011
Unraveling Mechanisms Regulating Systemic Iron Homeostasis
Finberg KE. Unraveling Mechanisms Regulating Systemic Iron Homeostasis. Hematology 2011, 2011: 532-537. PMID: 22160085, PMCID: PMC3648641, DOI: 10.1182/asheducation-2011.1.532.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsSystemic iron homeostasisIron homeostasisProduction of hepcidinSystemic iron balanceHepcidin levelsRed blood cellsIron overloadDietary ironErythropoietic activityHepcidin responseAnimal modelsIron balanceIron disordersIron deficiencyBlood cellsHepcidinPhysiological stimuliDeleterious effectsLiverIron loadingHomeostasisTissue culture systemMolecular mechanismsKey regulatorAvailability of ironTmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice
Finberg KE, Whittlesey RL, Andrews NC. Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. Blood 2011, 117: 4590-4599. PMID: 21355094, PMCID: PMC3099575, DOI: 10.1182/blood-2010-10-315507.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntimicrobial Cationic PeptidesFemaleGenotypeHemochromatosisHemochromatosis ProteinHepcidinsHeterozygoteHistocompatibility Antigens Class IHomozygoteHumansIronLiverMaleMembrane ProteinsMiceMice, Inbred C57BLMice, TransgenicPhenotypeSerine EndopeptidasesSignal TransductionUp-RegulationConceptsBMP/SmadBone morphogenetic proteinSystemic iron deficiencyGenetic lossHereditary hemochromatosis protein HFENatural genetic variationHemochromatosis protein HFEIron deficiencySmad target genesIron deficiency anemiaSystemic iron overloadElevated hepatic expressionExpression of hepcidinIron-refractory iron deficiency anemiaTransmembrane serine proteaseDietary iron absorptionSystemic iron homeostasisGenetic variationGenetic approachesTarget genesMacrophage iron releaseHepcidin elevationMorphogenetic proteinsDeficiency anemiaHepcidin production
2010
Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis
Finberg KE, Whittlesey RL, Fleming MD, Andrews NC. Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood 2010, 115: 3817-3826. PMID: 20200349, PMCID: PMC2865872, DOI: 10.1182/blood-2009-05-224808.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Iron-DeficiencyAnimalsAntimicrobial Cationic PeptidesBlotting, WesternBone Morphogenetic ProteinsDown-RegulationFemaleGPI-Linked ProteinsHemochromatosis ProteinHepatocytesHepcidinsHomeostasisInhibitor of Differentiation Protein 1IronLiverMembrane ProteinsMiceMice, Inbred C57BLMice, KnockoutReverse Transcriptase Polymerase Chain ReactionRNA, MessengerSerine EndopeptidasesSignal TransductionSmad ProteinsConceptsIron deficiency anemiaSystemic iron homeostasisHepcidin expressionSmad signalingIntravenous iron therapyOral iron treatmentSystemic iron overloadIron regulatory hormone hepcidinBMP/Smad signalingBmp6 mRNA levelsSmad Signaling PathwayIron homeostasisIron therapyIron storesDeficiency anemiaIron overloadHepatic levelsType II transmembrane serine proteaseIRIDA patientsTransmembrane serine proteaseFamilial disorderHormone hepcidinIron treatmentHepcidin transcriptionMice