Single-cell analysis of megakaryopoiesis in peripheral CD34+ cells: insights into ETV6-related thrombocytopenia

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Bigot, Timothée | Gabinaud, Elisa | Hannouche, Laurent | Sbarra, Véronique | Andersen, Elisa | Bastelica, Delphine | Falaise, Céline | Bernot, Denis | Ibrahim-Kosta, Manal | Morange, Pierre-Emmanuel | Loosveld, Marie | Saultier, Paul | Payet-Bornet, Dominique | Alessi, Marie-Christine | Potier, Delphine | Poggi, Marjorie

Edité par CCSD ; Wiley -

International audience.  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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