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Article

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.

The Journal of clinical investigation - 1 Feb 2014

Bluteau Dominique, Balduini Alessandra, Balayn Nathalie, Currao Manuela, Nurden Paquita, Deswarte Caroline, Leverger Guy, Noris Patrizia, Perrotta Silverio, Solary Eric, Vainchenker William, Debili Najet, Favier Remi, Raslova Hana

Abstract excerpt

Point mutations in the 5' UTR of ankyrin repeat domain 26 (ANKRD26) are associated with familial thrombocytopenia 2 (THC2) and a predisposition to leukemia. Here, we identified underlying mechanisms of ANKRD26-associated thrombocytopenia. Using megakaryocytes (MK) isolated from THC2 patients and healthy subjects, we demonstrated that THC2-associated mutations in the 5' UTR of ANKRD26 resulted in loss of...

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Share to 5' Untranslated Regions
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Core Binding Factor Alpha 2 Subunit

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Share to Proto-Oncogene Protein c-fli-1

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Source

Open in PubMed Open full text

Identifiers

PMID: 24430186
DOI: 10.1172/JCI71861
PMCID: PMC3904625

Genes

FLI1
RUNX1
MPL

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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Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.PMID 24430186Read ↗

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