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December 8, 2025BloodOpen Access

5-azacytidine treatment reshapes clonal structure and alters mutation-dependent splicing in MDS patients

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Authors

XZXuan ZhangDBDavid BernardiciusADAmy E. DeZern

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Overview

Multimodal profiling reveals gene regulation changes and resistance mechanisms in MDS, highlighting biomarkers.

Key Points

  • The aim is to explore the impact of 5-azacytidine treatment on mutation-dependent clonal dynamics and splicing in MDS.
  • Applied multimodal single cell profiling framework
  • Integrated transcriptome profiles and protein expression via CITE-seq
  • Conducted single-cell genotyping using PacBio long-read sequencing
  • Analyzed normal and MDS patient bone marrow samples
  • Identified significant gene regulation changes related to inflammation and splicing in aged HSPCs
  • Documented altered mutation-specific cellular responses post AZA treatment
  • Discovered biomarkers indicative of therapeutic vulnerabilities and resistance mechanisms

Cite This Study

Zhang et al. (2025) studied this question.

synapsesocial.com/papers/69362f4b4fa91c937236d798https://doi.org/10.1182/blood-2025-2054
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