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 Research
2021
Yale 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 Original Research
2019
EBV-Positive Primary Large B-Cell Lymphoma: The Role of Immunohistochemistry and XPO1 in the Diagnosis of Mediastinal Lymphomas
Maracaja DLV, Puthenpura V, Pels SG, O’Malley D, Sklar JL, Finberg KE, Xu ML. EBV-Positive Primary Large B-Cell Lymphoma: The Role of Immunohistochemistry and XPO1 in the Diagnosis of Mediastinal Lymphomas. Applied Immunohistochemistry & Molecular Morphology 2019, 28: 725-730. PMID: 31789821, DOI: 10.1097/pai.0000000000000820.Peer-Reviewed Original ResearchMeSH KeywordsAdultBiomarkers, TumorDiagnosis, DifferentialEpstein-Barr Virus InfectionsHerpesvirus 4, HumanHigh-Throughput Nucleotide SequencingHumansImmunohistochemistryImmunophenotypingKaryopherinsLymphoma, Large B-Cell, DiffuseMaleMediastinal NeoplasmsMutationReceptors, Cytoplasmic and NuclearThymus NeoplasmsYoung AdultConceptsPrimary mediastinal large B-cell lymphomaEpstein-Barr virusLarge B-cell lymphomaB-cell lymphomaEBV positivityMediastinal lymphomaMediastinal large B-cell lymphomaMediastinal gray zone lymphomaGray zone lymphomaRole of immunohistochemistryClassical Hodgkin lymphomaEBV expressionMediastinal massTherapeutic optionsHodgkin's lymphomaClassic immunophenotypeLymphomaXPO1 mutationsMutational profilingPositivityNext-generation sequencingImmunophenotypeSomatic mutationsK mutationTumors
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
2007
Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features
Finberg KE, Sequist LV, Joshi VA, Muzikansky A, Miller JM, Han M, Beheshti J, Chirieac LR, Mark EJ, Iafrate AJ. Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features. Journal Of Molecular Diagnostics 2007, 9: 320-326. PMID: 17591931, PMCID: PMC1899415, DOI: 10.2353/jmoldx.2007.060182.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Bronchiolo-AlveolarAdenocarcinoma, MucinousAgedAged, 80 and overCell DifferentiationDisease ProgressionDNA Mutational AnalysisFemaleGene DosageGenes, erbB-1Genes, rasHumansIn Situ Hybridization, FluorescenceLung NeoplasmsMaleMiddle AgedMutationPrognosisRetrospective StudiesConceptsEpidermal growth factor receptor (EGFR) geneEGFR mutationsBronchioloalveolar carcinomaKRAS mutationsLung adenocarcinomaBronchioloalveolar featuresKRAS codon 12Mucinous patternNonmucinous tumorsClinical responseMucinous histologyMucinous tumorsGrowth factor receptor geneMucinous adenocarcinomaHistopathological featuresNonmucinous adenocarcinomaMucinous morphologyMucinous differentiationAdenocarcinomaFactor receptor geneCodon 12Kinase inhibitorsTumorsReceptor geneTKIs
2001
Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans
Cruz D, Simon D, Nelson-Williams C, Farhi A, Finberg K, Burleson L, Gill J, Lifton R. Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans. Hypertension 2001, 37: 1458-1464. PMID: 11408395, DOI: 10.1161/01.hyp.37.6.1458.Peer-Reviewed Original ResearchConceptsLower blood pressureBlood pressureGitelman syndromeHypokalemic alkalosisReduces Blood PressureHigh salt intakeReduced blood pressureDiastolic blood pressureHigh blood pressureWild-type subjectsNa-Cl cotransporterFamily membersSalt intakeRenal saltClinical consequencesEpidemiological studiesGeneral populationHeterozygous childrenSyndromeHeterozygote subjectsGenetic testingLower ageSalt homeostasisSignificant predictorsHypertension
1999
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
Karet F, Finberg K, Nelson R, Nayir A, Mocan H, Sanjad S, Rodriguez-Soriano J, Santos F, Cremers C, Pietro A, Hoffbrand B, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton S, Wu D, Skvorak A, Morton C, Cunningham M, Jha V, Lifton R. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genetics 1999, 21: 84-90. PMID: 9916796, DOI: 10.1038/5022.Peer-Reviewed Original ResearchConceptsRenal tubular acidosisTubular acidosisAcid secretionDistal renal tubular acidosisSensorineural hearing lossRenal acid secretionNormal auditory functionActive proton secretionMetabolic acidosisATP6B1Hearing lossAuditory functionSensorineural deafnessEndolymphatic sacApical proton pumpAcidosisSecretionProton secretionB subunitB1 subunitHuman diseasesMutationsPatientsDiseasePH homeostasis
1996
A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans
Günel M, Awad I, Finberg K, Anson J, Steinberg G, Batjer H, Kopitnik T, Morrison L, Giannotta S, Nelson-Williams C, Lifton R. A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans. New England Journal Of Medicine 1996, 334: 946-951. PMID: 8596595, DOI: 10.1056/nejm199604113341503.Peer-Reviewed Original ResearchConceptsCavernous malformationsCerebral cavernous malformationsSporadic casesFamilial diseaseSame mutationSporadic cavernous malformationsDevelopment of symptomsHispanic AmericansCerebral hemorrhageVascular diseaseAsymptomatic carriersHigh prevalenceClinical casesMalformationsDiseaseFounder mutationPatientsAge dependenceAffected membersKindredsMarkersMexican descentEthnic groupsMutationsSame allele
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