2011
A New Case of KLF1 G973A Mutation and Congenital Dyserythropoeitic Anemia (CDA)- Further Definition of Emerging New Syndrome and Possible Association with Gonadal Dysgenesis
Ravindranath Y, Goyette G, Buck S, Gadgeel M, Dombkowski A, Boxer L, Gallagher P, Johnson R. A New Case of KLF1 G973A Mutation and Congenital Dyserythropoeitic Anemia (CDA)- Further Definition of Emerging New Syndrome and Possible Association with Gonadal Dysgenesis. Blood 2011, 118: 2101. DOI: 10.1182/blood.v118.21.2101.2101.Peer-Reviewed Original ResearchE325K mutationRed blood cellsHemolytic anemiaFetal hydropsMale sexSevere anemiaNew casesK mutationAquaporin-1High fetal hemoglobinErythroid transcription factor KLF1Gonadal dysgenesisPresence of CD44Undiagnosed hemolytic anemiaPresence of spherocytesAbsence of CD44Array comparative genomic hybridization studyIntrauterine transfusionComparative genomic hybridization studyWeeks' gestationClinical courseClinical findingsKLF1 mutationsRenal stonesPatient's erythrocytes
2007
Multiple Defects of Both Primitive and Definitive Erythrocytes in EKLF-Deficient Mice.
Pilon A, Beaupre J, Bieker J, Gallagher P, Bodine D. Multiple Defects of Both Primitive and Definitive Erythrocytes in EKLF-Deficient Mice. Blood 2007, 110: 1234. DOI: 10.1182/blood.v110.11.1234.1234.Peer-Reviewed Original ResearchIngenuity Pathway AnalysisFL cellsSevere anemiaFetal liver cellsG0/G1Cell cycle analysisColony-forming assaysLevels of mRNADay 14Cytometric analysisAbsolute numberLiver cellsCell cycle progressionComparable reductionMiceDifferentiation blockOrthochromatic normoblastsNormoblastsKrüppel-like factorAnemiaTranscription factorsApoptosisOsmotic fragility assaysPathway analysisWT levels