Single-cell analysis of megakaryopoiesis in peripheral CD34+ cells: insights into ETV6-related thrombocytopenia
Résumé
ETV6-related thrombocytopenia mechanisms remain poorly understood Megakaryopoiesis was studied by single-cell RNA sequencing and defects were confirmed ex-vivo ETV6 deficiency led to the development of aberrant haemopoietic cells as early as the MEP stage Upregulation of ribosome biogenesis were documented in patient megakaryocytes and platelets
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