Genotype-integrated single-cell transcriptome analysis reveals the role of DDX41 pR525H in a patient with myelodysplastic neoplasms

Genotype-integrated single-cell transcriptome analysis reveals the role of DDX41 pR525H in a patient with myelodysplastic neoplasms

Abstract DEAD-box helicase 41 (DDX41) is implicated in germline (GL)-predisposed myeloid neoplasms, where pathogenic GL variants often lead to disease following the acquisition of a somatic variant in trans, most commonly p.R525H. However, the precise molecular mechanisms by which DDX41 variants con...

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Bibliographic Details
Main Authors: Hirotaka Matsui, Akiko Nagamachi, Minori Koizumi, Rei Kudo, Masahiko Ajiro, Hironori Harada, Yuka Harada, Shigeyuki Shichino, Akihide Yoshimi
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Cell-cycle arrest
DDX41
Myeloid neoplasms with germline predisposition
Single-cell transcriptome
p.R525H variant
Online Access:https://doi.org/10.1038/s41598-025-06477-w
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https://doi.org/10.1038/s41598-025-06477-w

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