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
2011
Integrated Genome-Wide CTCF and CohesinSA1 Occupancy and Expression Analyses in Erythropoiesis
Schulz V, Steiner L, Maksimova Y, Gallagher P. Integrated Genome-Wide CTCF and CohesinSA1 Occupancy and Expression Analyses in Erythropoiesis. Blood 2011, 118: 1305. DOI: 10.1182/blood.v118.21.1305.1305.Peer-Reviewed Original ResearchSites of CTCFCTCF sitesCell-type specificIntergenic regionErythroid cellsChromatin domainsCohesin complexCell typesGene promoterRefSeq genesLong-range chromatin interactionsPrimary human erythroid cellsRepressive chromatin marksCell type-specific mannerDistal intergenic regionsMacromolecule catabolic processHigh-throughput sequencingHuman erythroid cellsMRNA transcriptome analysisChromatin marksChromatin interactionsChromosome segregationInduction of apoptosisCTCF bindingTranscriptional activator