2015
Pomalidomide reverses γ-globin silencing through the transcriptional reprogramming of adult hematopoietic progenitors
Dulmovits BM, Appiah-Kubi AO, Papoin J, Hale J, He M, Al-Abed Y, Didier S, Gould M, Husain-Krautter S, Singh SA, Chan KW, Vlachos A, Allen SL, Taylor N, Marambaud P, An X, Gallagher PG, Mohandas N, Lipton JM, Liu JM, Blanc L. Pomalidomide reverses γ-globin silencing through the transcriptional reprogramming of adult hematopoietic progenitors. Blood 2015, 127: 1481-1492. PMID: 26679864, PMCID: PMC4797024, DOI: 10.1182/blood-2015-09-667923.Peer-Reviewed Original ResearchMeSH KeywordsAdultAnemia, Sickle CellBeta-GlobinsCarrier ProteinsErythroid Precursor CellsErythropoiesisFetal HemoglobinGamma-GlobinsGene Expression Regulation, DevelopmentalGenetic VectorsHematopoietic Stem CellsHistone DemethylasesHumansIkaros Transcription FactorKruppel-Like Transcription FactorsLentivirusMultiple MyelomaNeoplasm ProteinsNuclear ProteinsProteasome Endopeptidase ComplexRepressor ProteinsRNA InterferenceRNA, Small InterferingSOXD Transcription FactorsThalidomideTranscription, GeneticConceptsSickle cell anemiaCell anemiaΓ-globinThird-generation immunomodulatory drugAdult human erythroblastsMultiple myeloma patientsHematopoietic progenitorsΓ-globin levelsΓ-globin repressionCurrent therapeutic strategiesErythroid differentiation programFetal hemoglobinAdult hematopoietic progenitorsPomalidomide treatmentImmunomodulatory drugsMyeloma patientsTranscriptional reprogrammingFetal hemoglobin productionTranscription networksTherapeutic strategiesDifferentiation programPomalidomideHuman erythroblastsΒ-hemoglobinopathiesGenetic ablation
2014
Assessment of HbF QTLs Affecting Disease Severity and Genetic Analysis in Patients Homozygous for Codon 8 (–AA) β0-Thalassemia Mutation
Jiang Z, Huang S, Luo H, Akar N, Basak A, Al-Allawi N, Unal S, Gumruk F, Davis L, Morrison T, Campbell A, Gallagher P, Forget B, Steinberg M, Chui D. Assessment of HbF QTLs Affecting Disease Severity and Genetic Analysis in Patients Homozygous for Codon 8 (–AA) β0-Thalassemia Mutation. Blood 2014, 124: 2690. DOI: 10.1182/blood.v124.21.2690.2690.Peer-Reviewed Original ResearchQuantitative trait lociGene clusterIntergenic regionHbF quantitative trait lociΓ-globin gene expressionKb intergenic regionSevere phenotypeMild phenotypeHBS1L-MYB intergenic regionΒ-globin gene clusterGenome-wide SNP arraysMild disease phenotypeDisease phenotypeMinor alleleWhole-genome sequencingTrait lociHPFH mutationNovel SNPsGenetic analysisSNP arrayGene expressionΒ-hemoglobinopathiesGenome sequencingQTL genotypesWhole-exome sequencing