2011
Tmprss6 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
Hyperferritinemia and iron overload in type 1 Gaucher disease
Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. American Journal Of Hematology 2010, 85: 472-476. PMID: 20575041, PMCID: PMC2895498, DOI: 10.1002/ajh.21721.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyType 1 Gaucher's diseaseSystemic iron overloadIron overloadGaucher diseaseLiver biopsySerum ferritinReplacement therapyTransferrin saturationHFE genotypeHFE mutationsType 1 Gaucher diseaseSubset of patientsSeverity Score IndexCorrelation of ferritinClinical iron overloadSevere hyperferritinemiaDisease activityPrior splenectomyFerritin levelsClinical spectrumHFE genotypingLiver volumeIntact spleenHigh prevalenceDown-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
2005
Iron in Skin of Mice with Three Etiologies of Systemic Iron Overload
Adams BD, Lazova R, Andrews NC, Milstone LM. Iron in Skin of Mice with Three Etiologies of Systemic Iron Overload. Journal Of Investigative Dermatology 2005, 125: 1200-1205. PMID: 16354190, PMCID: PMC2243217, DOI: 10.1111/j.0022-202x.2005.23949.x.Peer-Reviewed Original ResearchConceptsSystemic iron overloadHigh-iron dietSkin ironIron overloadIron dietIron levelsSkin of miceTissue iron levelsCutaneous manifestationsSkin of individualsSkin toxicityHistological abnormalitiesHistological changesMouse modelParenteral injectionParenteral administrationHereditary hemochromatosisTissue toxicityHuman hemochromatosisMiceSkin histologyHemochromatosis geneHemochromatosisHigh dietDermis
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