Featured Publications
Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency
Heeney MM, Guo D, De Falco L, Campagna DR, Olbina G, Kao PP, Schmitz-Abe K, Rahimov F, Gutschow P, Westerman K, Ostland V, Jackson T, Klaassen R, Markianos K, Finberg KE, Iolascon A, Westerman M, London WB, Fleming MD. Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. Blood 2018, 132: 448-455. PMID: 29895660, PMCID: PMC6071554, DOI: 10.1182/blood-2017-03-773028.Peer-Reviewed Original ResearchTmprss6 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 productionDown-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 transcriptionMiceMutations 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 proteasesAnemiaTherapyHepcidinMutationsGenetic loss of Tmprss6 alters terminal erythroid differentiation in a mouse model of β-thalassemia intermedia
Stagg DB, Whittlesey RL, Li X, Lozovatsky L, Gardenghi S, Rivella S, Finberg KE. Genetic loss of Tmprss6 alters terminal erythroid differentiation in a mouse model of β-thalassemia intermedia. Haematologica 2019, 104: e442-e446. PMID: 30819909, PMCID: PMC6886429, DOI: 10.3324/haematol.2018.213371.Peer-Reviewed Original Research
2013
Striking 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 siteDisordersTMPRSS6TherapyHemochromatosisLiverAdministrationSeverityIron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy
Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, Finberg KE, Majewski J, Jabado N. Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy. Pediatrics 2013, 131: e620-e625. PMID: 23319530, PMCID: PMC3675830, DOI: 10.1542/peds.2012-1303.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAdministration, OralAdolescentAnemia, HypochromicAnemia, Iron-DeficiencyAnemia, RefractoryChildChild, PreschoolChromosome AberrationsDNA Mutational AnalysisExomeFemaleFerritinsFollow-Up StudiesGenetic Carrier ScreeningGenotypeHumansIronLong-Term CareMaleMembrane ProteinsMutation, MissenseSerine EndopeptidasesConceptsIron deficiency anemiaIron-refractory iron deficiency anemiaOral iron therapyWhole-exome sequencingOral ironIron therapyDeficiency anemiaChildhood iron deficiency anemiaExome sequencingUnusual clinical presentationParenteral iron administrationSpectrum of diseaseIron regulatory genesSevere microcytic anemiaAutosomal recessive disorderAnemia refractoryBiological presentationClinical presentationInitial presentationIron administrationAnemiaMicrocytic anemiaGenetic testingHyperferritinemiaHeterozygous mutations
2009
Iron-Refractory Iron Deficiency Anemia
Finberg KE. Iron-Refractory Iron Deficiency Anemia. Seminars In Hematology 2009, 46: 378-386. PMID: 19786206, DOI: 10.1053/j.seminhematol.2009.06.006.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsAdministration, OralAnemia, Iron-DeficiencyAnemia, RefractoryAntimicrobial Cationic PeptidesChildChild, PreschoolFemaleGPI-Linked ProteinsHematinicsHemochromatosis ProteinHepcidinsHumansInfantInfusions, ParenteralIronIron CompoundsLiverMaleMembrane ProteinsMutationSerine EndopeptidasesTreatment FailureUp-RegulationConceptsIron-refractory iron deficiency anemiaIron deficiency anemiaDeficiency anemiaOral iron treatmentParenteral iron therapyAutosomal recessive disorderIron therapyClinical presentationRecent studiesHepcidin expressionIron absorptionIRIDA patientsTransmembrane serine proteaseIron treatmentAnemiaElevated levelsRecessive disorderHepcidinLiverDisordersTMPRSS6Serine proteases
1999
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Karet F, Finberg K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Medina J, Lifton R. Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34. American Journal Of Human Genetics 1999, 65: 1656-1665. PMID: 10577919, PMCID: PMC1288376, DOI: 10.1086/302679.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdenosine TriphosphatasesAdultAnion Transport ProteinsAntiportersChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 2Chromosomes, Human, Pair 7ConsanguinityDNA Mutational AnalysisFemaleGenes, RecessiveHearingHumansHydrogen-Ion ConcentrationInfantInfant, NewbornLod ScoreMaleMembrane ProteinsMiddle EastMolecular Sequence DataPakistanPedigreePolymorphism, Single-Stranded ConformationalSLC4A ProteinsConceptsDistal renal tubular acidosesSensorineural hearing lossNormal hearingProgressive bilateral sensorineural hearing lossBilateral sensorineural hearing lossAutosomal recessive distal renal tubular acidosisDistal renal tubular acidosisRecessive distal renal tubular acidosisSevere metabolic acidosisRenal tubular acidosisRenal tubular acidosesMetabolic acidosisTubular acidosisRenal calcificationHearing lossAlkaline urineATP6B1Distal nephronImpaired hearingApical proton pumpChildhood featuresAcidosisOne-thirdMolecular examinationHearing
1995
Interactions of VirB9, -10, and -11 with the membrane fraction of Agrobacterium tumefaciens: solubility studies provide evidence for tight associations
Finberg K, Muth T, Young S, Maken J, Heitritter S, Binns A, Banta L. Interactions of VirB9, -10, and -11 with the membrane fraction of Agrobacterium tumefaciens: solubility studies provide evidence for tight associations. Journal Of Bacteriology 1995, 177: 4881-4889. PMID: 7665464, PMCID: PMC177261, DOI: 10.1128/jb.177.17.4881-4889.1995.Peer-Reviewed Original ResearchConceptsMembrane fractionPore complexMembrane associationVirB10 proteinsAgrobacterium tumefaciens virB operonTight associationSingle transmembrane domainT-DNA transferPeripheral membrane associationOuter membrane fractionAmino acids 22Plant cellsMembrane topologyVirB operonMembrane localizationTransmembrane domainMutant proteinsSucrose density gradient centrifugationAgrobacterium tumefaciensSteady-state levelsA. tumefaciensOuter membraneAgrobacterium cellsVirB10VirB9