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Article

Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression.

Blood - 27 Sept 2012

Bluteau Dominique, Glembotsky Ana C, Raimbault Anna, Balayn Nathalie, Gilles Laure, Rameau Philippe, Nurden Paquita, Alessi Marie Christine, Debili Najet, Vainchenker William, Heller Paula G, Favier Remi, Raslova Hana

Abstract excerpt

FPD/AML is a familial platelet disorder characterized by platelet defects, predisposition to acute myelogenous leukemia (AML) and germ-line heterozygous RUNX1 alterations. Here we studied the in vitro megakaryopoiesis of 3 FPD/AML pedigrees. A 60% to 80% decrease in the output of megakaryocytes (MKs) from CD34(+) was observed. MK ploidy level was low and mature MKs displayed a major defect in proplatelet...

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Source

Identifiers

PMID: 22898599
DOI: 10.1182/blood-2012-04-422337

Genes

RUNX1
MYH10
MYL9
MYH9

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.

Related research

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Research trail→

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Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression.PMID 22898599Read ↗

Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiencySemantic proximity Read ↗

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.Semantic proximity Read ↗

RUNX1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells: Mechanistic studies and drug correctionSemantic proximity Read ↗

Megakaryocyte migration defects due to nonmuscle myosin IIA mutations underlie thrombocytopenia in MYH9-related disease.Semantic proximity Read ↗

Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defectsSemantic proximity Read ↗

RUNX-1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cellsSemantic proximity Read ↗

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.Semantic proximity Read ↗

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The abnormal proplatelet formation in MYH9-related macrothrombocytopenia results from an increased actomyosin contractility and is rescued by myosin IIA inhibition.Semantic proximity Read ↗

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P19INK4D links endomitotic arrest and megakaryocyte maturation and is regulated by AML-1Semantic proximity Read ↗

Advances in the understanding of MYH9 disorders.Semantic proximity Read ↗

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