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Article

A RUNX1-FPDMM rhesus macaque model reproduces the human phenotype and predicts challenges to curative gene therapies.

Blood - 19 Jan 2023

Lee Byung-Chul, Zhou Yifan, Bresciani Erica, Ozkaya Neval, Dulau-Florea Alina, Carrington Blake, Shin Tae-Hoon, Baena Valentina, Syed Zulfeqhar A, Hong So Gun, Zhen Tao, Calvo Katherine R, Liu Paul, Dunbar Cynthia E

Abstract excerpt

Germ line loss-of-function heterozygous mutations in the RUNX1 gene cause familial platelet disorder with associated myeloid malignancies (FPDMM) characterized by thrombocytopenia and a life-long risk of hematological malignancies. Although gene therapies are being considered as promising therapeutic options, current preclinical models do not recapitulate the human phenotype and are unable to elucidate the...

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Identifiers

PMID: 36322931
DOI: 10.1182/blood.2022018193
PMCID: PMC9936307

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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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