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Article

Identification of TRIB1 R107L gain-of-function mutation in human acute megakaryocytic leukemia.

Blood - 15 Mar 2012

Yokoyama Takashi, Toki Tsutomu, Aoki Yoshihiro, Kanezaki Rika, Park Myoung-Ja, Kanno Yohei, Takahara Tomoko, Yamazaki Yukari, Ito Etsuro, Hayashi Yasuhide, Nakamura Takuro

Abstract excerpt

Trib1 has been identified as a myeloid oncogene in a murine leukemia model. Here we identified a TRIB1 somatic mutation in a human case of Down syndrome-related acute megakaryocytic leukemia. The mutation was observed at well-conserved arginine 107 residue in the pseudokinase domain. This R107L mutation remained in leukocytes of the remission stage in which GATA1 mutation disappeared, suggesting the TRIB1...

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Source

Identifiers

PMID: 22294728
DOI: 10.1182/blood-2010-12-324806

Genes

TRIB1
GATA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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