Discovery of the First Pathogenic Human EPO Mutation Provides Mechanistic Insight into Cytokine Signaling
Kim A, Ulirsch J, Wilmes S, Unal E, Moraga I, Karakukcu M, Yuan D, Kazerounian S, Gupta N, Gabriel S, Lander E, Patiroglu T, Ozcan A, Ozdemir M, Garcia C, Piehler J, Gazda H, Klein D, Sankaran V. Discovery of the First Pathogenic Human EPO Mutation Provides Mechanistic Insight into Cytokine Signaling. Blood 2016, 128: 331. DOI: 10.1182/blood.v128.22.331.331.Peer-Reviewed Original ResearchDiamond-Blackfan anemiaWhole-exome sequencing dataEPO receptorPotent concentrationAllogeneic bone marrow transplantBone marrow transplantBone marrow failure disordersYears of ageIntracellular flow cytometryMarrow failure disordersSerum EPO levelsExome sequencing dataMajority of casesAnemia correctionHost diseaseSevere graftDonor chimerismRed blood cellsMarrow transplantResultant complicationsLow doseRare caseSide effectsPatientsBone marrow