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Article

Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome.

Nature genetics - 1 Sept 2002

Wechsler Joshua, Greene Marianne, McDevitt Michael A, Anastasi John, Karp Judith E, Le Beau Michelle M, Crispino John D

Abstract excerpt

Children with Down syndrome have a 10-20-fold elevated risk of developing leukemia, particularly acute megakaryoblastic leukemia (AMKL). While a subset of pediatric AMKLs is associated with the 1;22 translocation and expression of a mutant fusion protein, the genetic alterations that promote Down syndrome-related AMKL (DS-AMKL) have remained elusive. Here we show that leukemic cells from every individual with...

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Topics

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Share to Core Binding Factor Alpha 2 Subunit
Share to Down Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythroid-Specific DNA-Binding Factors

Share to GATA1 Transcription Factor

Share to Leukemia, Megakaryoblastic, Acute

Share to Polymorphism, Single-Stranded Conformational

Share to Protein Biosynthesis

Share to Proto-Oncogene Proteins

Source

Identifiers

PMID: 12172547
DOI: 10.1038/ng955

Genes

GATA1
ZFPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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