Mouse Models of Hereditary Xerocytosis-Associated PIEZO1 Mutations Reveal Genotype-Phenotype Differences in Hematological Defects and Iron Loading
Finberg K, Peres Diaz L, Shan P, Chua E, Lalwani K, Gallagher P. Mouse Models of Hereditary Xerocytosis-Associated PIEZO1 Mutations Reveal Genotype-Phenotype Differences in Hematological Defects and Iron Loading. Blood 2024, 144: 3851-3851. DOI: 10.1182/blood-2024-203740.Peer-Reviewed Original ResearchRed cell distribution widthHereditary xerocytosisSpleen weight/body weight ratioRed blood cell countMean corpuscular volumeCompared to wild-typeHematological defectsMouse modelHeart weight/body weight ratioWild-typeIron loadingComplete blood count analysisRed blood cell turnoverSerum transferrin saturationC57BL/6 genetic backgroundSerum hepcidin levelsLiver iron loadingYoung adult miceGenotype-phenotype differencesCell distribution widthMean corpuscular hemoglobinGain-of-function mutationsBlood count analysisNon-heme iron concentrationsRed cell indicesHematopoietic Stem Cells Supporting Fetal Erythropoiesis Are Differentially Regulated By Small and Large Ribosomal Subunits
Tang Y, Ling T, Mehmood R, Khan M, Papoin J, Palis J, Steiner L, Durand S, Zon L, Bhoopalan S, Weiss M, Lipton J, Taylor N, Gallagher P, Narla M, Crispino J, Blanc L. Hematopoietic Stem Cells Supporting Fetal Erythropoiesis Are Differentially Regulated By Small and Large Ribosomal Subunits. Blood 2024, 144: 195. DOI: 10.1182/blood-2024-210699.Peer-Reviewed Original ResearchDiamond-Blackfan anemiaHaplo-insufficient miceFetal hematopoiesisHematopoietic stemBFU-EProgenitor cellsCongenital bone marrow failure syndromeMouse modelClinically relevant mouse modelBone marrow failure syndromesProtein haploinsufficiencyBasophilic erythroblastsMarrow failure syndromesBone marrow failureFetal liver cellsRelevant mouse modelConsistent with clinical findingsPost-natal dayConditional mouse modelErythroid lineage cellsRibosomal protein haploinsufficiencyAssociated with mutationsExpression of RUNX1BFU-E stageRUNX1 allele