Featured Publications
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
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