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Article

Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21.

Blood - 1 Aug 2003

Rainis Liat, Bercovich Dan, Strehl Sabine, Teigler-Schlegel Andrea, Stark Batia, Trka Jan, Amariglio Ninette, Biondi Andrea, Muler Inna, Rechavi Gideon, Kempski Helena, Haas Oskar A, Izraeli Shai

Abstract excerpt

Patients with Down syndrome (DS) frequently develop 2 kinds of clonal megakaryocytosis: a common, congenital, spontaneously resolving, transient myeloproliferative disorder (TMD) and, less commonly, childhood acute megakaryoblastic leukemia (AMKL). Recently, acquired mutations in exon 2 of GATA1, an X-linked gene encoding a transcription factor that promotes megakaryocytic differentiation, were described in 6 DS...

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Share to Chromosomes, Human, Pair 21
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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

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Source

Identifiers

PMID: 12649131
DOI: 10.1182/blood-2002-11-3599

Genes

GATA1

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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