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Article

Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis

31 Oct 2023

Abstract excerpt

Patients with Down syndrome (DS), or trisomy 21 (T21), are at increased risk of transient abnormal myelopoiesis (TAM) and acute megakaryoblastic leukemia (ML-DS). Both TAM and ML-DS require prenatal somatic mutations in GATA1, resulting in the truncated isoform GATA1s. The mechanism by which individual chromosome 21 (HSA21) genes synergize with GATA1s for leukemic transformation is challenging to study, in part...

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PMID: 37906251
DOI: 10.1172/jci.insight.172851

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