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
2013
Iron 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 examinationHearingMutations 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