Featured Publications
IL‐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 tuftNCOA4 is regulated by HIF and mediates mobilization of murine hepatic iron stores after blood loss
Li X, Lozovatsky L, Sukumaran A, Gonzalez L, Jain A, Liu D, Ayala-Lopez N, Finberg KE. NCOA4 is regulated by HIF and mediates mobilization of murine hepatic iron stores after blood loss. Blood 2020, 136: 2691-2702. PMID: 32659785, PMCID: PMC7735158, DOI: 10.1182/blood.2020006321.Peer-Reviewed Original ResearchConceptsHepatic iron storesHypoxia-inducible factorNonheme iron concentrationsIron storesBlood lossNCOA4 expressionSubunit levelsHIF-2α knockdownMurine hepatoma cell lineMessenger RNA inductionDietary ironHepatic responseHepatoma cell lineHIF-1αHepatic originIron deficiencyInducible factorMiceCell linesNCOA4PhlebotomyModest effectRNA inductionIron concentrationProlyl hydroxylasesLow iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice
Xavier-Ferrucio J, Scanlon V, Li X, Zhang PX, Lozovatsky L, Ayala-Lopez N, Tebaldi T, Halene S, Cao C, Fleming MD, Finberg KE, Krause DS. Low iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice. Blood 2019, 134: 1547-1557. PMID: 31439541, PMCID: PMC6839952, DOI: 10.1182/blood.2019002039.Peer-Reviewed Original ResearchConceptsMK lineage commitmentExtracellular signal-regulated kinase (ERK) pathwaySignal-regulated kinase pathwayMegakaryocytic-erythroid progenitorsBone marrow transplantation assaysSignal transduction analysisIron-deficient conditionsGene expression analysisMegakaryocytic commitmentLineage commitmentTransferrin receptor 2MK lineageTmprss6-/- miceIron sensorExpression analysisKinase pathwayTransduction analysisTransplantation assaysErythroid progenitorsMarrow environmentHematopoietic cellsMessenger RNAPhospho-ERK1/2Systemic iron deficiencyLow ironMutations 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
2023
Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population
Jiao J, Finberg K, Jain D, Morotti R. Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population. Pediatric And Developmental Pathology 2023, 26: 394-403. PMID: 37334553, DOI: 10.1177/10935266231175426.Peer-Reviewed Case Reports and Technical NotesConceptsHepatocellular adenomaPediatric populationInflammatory HCASonic hedgehog hepatocellular adenomasYoung type 3Maturity-onset diabetesInflammatory hepatocellular adenomaΒ-catenin-activated hepatocellular adenomaAbernethy malformationPhenotype-genotype correlationClinical historyHCA subtypesH-HCACase 2Case 1Type 3Pathological informationB-HCASubtypesFamily surveillanceLimited studiesMales
2022
Yale Precision Medicine Tumor Board: reawakening the guardian of the genome
Grant MJ, Finberg KE, Walther Z, Stein SM, Lacy J, Eder JP, Goldberg SB. Yale Precision Medicine Tumor Board: reawakening the guardian of the genome. The Lancet Oncology 2022, 23: 337-338. PMID: 35240081, DOI: 10.1016/s1470-2045(22)00037-7.Peer-Reviewed Case Reports and Technical Notes
2021
Pathogenic BRCA2 germline variants in combined hepatocellular‐cholangiocarcinoma
Li H, Zhang X, Finberg KE, Walther Z, Jain D, Gibson J. Pathogenic BRCA2 germline variants in combined hepatocellular‐cholangiocarcinoma. Pathology International 2021, 72: 138-140. PMID: 34808016, DOI: 10.1111/pin.13188.Peer-Reviewed Case Reports and Technical NotesEndometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review
Irshaid L, Clark M, Fadare O, Finberg KE, Parkash V. Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review. International Journal Of Gynecological Pathology 2021, 41: 258-267. PMID: 33990091, DOI: 10.1097/pgp.0000000000000792.Peer-Reviewed Original ResearchConceptsGermline TP53 mutationsEndometrial carcinomaTP53 mutationsGermline mutationsMissense substitution p.Predominant tumor typePremenopausal breast carcinomaAdrenal cortical tumorsTP53 geneTP53 germline mutationsSoft tissue sarcomasEndometrioid endometrial carcinomaEarly-onset malignanciesLi-Fraumeni syndromeAutosomal dominant disorderCortical tumorsPresenting tumourGynecologic malignanciesTissue sarcomasUterine carcinomaCase reportSpinal cordBreast carcinomaGrade 3Characteristic syndromeYale Cancer Center Precision Medicine Tumor Board: molecular findings alter a diagnosis and treatment plan
Gibson JA, Finberg KE, Nalbantoglu I, Cecchini M, Ganzak A, Walther Z, Sklar JL, Eder JP, Goldberg SB. Yale Cancer Center Precision Medicine Tumor Board: molecular findings alter a diagnosis and treatment plan. The Lancet Oncology 2021, 22: 306-307. PMID: 33662283, DOI: 10.1016/s1470-2045(20)30683-5.Peer-Reviewed Case Reports and Technical NotesIroning out an approach to alleviate the hypoferremia of acute inflammation
Finberg KE. Ironing out an approach to alleviate the hypoferremia of acute inflammation. Haematologica 2021, 106: 326-328. PMID: 33522782, PMCID: PMC7849331, DOI: 10.3324/haematol.2020.266627.Commentaries, Editorials and Letters
2020
Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy
Womack J, Sukumaran A, Li X, Lozovatsky L, Gallagher PG, Seid JE, Finberg KE. Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy. Blood Cells Molecules And Diseases 2020, 87: 102532. PMID: 33385755, PMCID: PMC8272917, DOI: 10.1016/j.bcmd.2020.102532.Peer-Reviewed Original ResearchYale Cancer Center Precision Medicine Tumor Board: new technology, new drugs, and the value of repeat testing
Hafez N, Walther Z, Eder JP, Sklar JL, Gettinger SN, Finberg KE, Goldberg SB. Yale Cancer Center Precision Medicine Tumor Board: new technology, new drugs, and the value of repeat testing. The Lancet Oncology 2020, 21: 343-344. PMID: 32950226, DOI: 10.1016/s1470-2045(20)30010-3.Peer-Reviewed Case Reports and Technical Notes
2015
Ironing out the role of Toll-like receptors
Finberg KE. Ironing out the role of Toll-like receptors. Blood 2015, 125: 2183-2184. PMID: 25838278, DOI: 10.1182/blood-2015-02-628412.Commentaries, Editorials and Letters
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 modelsIron 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
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
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