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Article

Dissecting stepwise mutational impairment of megakaryopoiesis in a model of Down syndrome-associated leukemia.

The Journal of clinical investigation - 15 Jul 2022

Evans Edward J, DeGregori James

Abstract excerpt

Individuals with Down syndrome (DS) have more than 100-fold increased risk of acute megakaryoblastic leukemia (AMKL), but its pathogenesis is poorly understood. In this issue of the JCI, Arkoun et al. engineered stepwise DS-AMKL-associated mutations in GATA1, MPL, and SMC3 in human induced pluripotent stem cell (iPSC) clones from individuals with DS to dissect how each mutation affects gene expression control and...

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Identifiers

PMID: 35838049
DOI: 10.1172/JCI161659
PMCID: PMC9282920

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