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Article

Examining the Effects of the RUNX1 p.Leu43Ser Variant on FPD/AML Phenotypes Using a CRISPR/Cas9-Generated Knock-In Murine Model.

Biomolecules - 12 May 2025

Marin-Quilez Ana, García-Tuñón Ignacio, Benito Rocío, Ordoñez José Luis, Díaz-Ajenjo Lorena, Lama-Villanueva Ana, Guerrero Carmen, Pérez-Losada Jesús, González-Porras José Ramón, Hernández-Rivas Jesús María, Del Rey Mónica, Bastida José María

Abstract excerpt

Germline heterozygous variants in RUNX1 lead to Familial Platelet Disorder with Myeloid Leukemia Predisposition (FPD/AML). Cellular and/or animal models are helpful to uncovering the role of a variant in disease progression. Twenty-five mice per genotype (RUNX1WT/WT, RUNX1WT/L43S, RUNX1L43S/L43S), previously generated by CRISPR/Cas9, and nine sub-lethally irradiated mice per genotype were investigated. Peripheral...

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Share to Blood Platelet Disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40427601
DOI: 10.3390/biom15050708
PMCID: PMC12109519

Genes

RUNX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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