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Article

Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations.

Genome research - 20 Nov 2024

Pacholewska Alicja, Lienhard Matthias, Brüggemann Mirko, Hänel Heike, Bilalli Lorina, Königs Anja, Heß Felix, Becker Kerstin, Köhrer Karl, Kaiser Jesko, Gohlke Holger, Gattermann Norbert, Hallek Michael, Herling Carmen D, König Julian, Grimm Christina, Herwig Ralf, Zarnack Kathi, Schweiger Michal R

Abstract excerpt

Mutations in splicing factor 3B subunit 1 (SF3B1) frequently occur in patients with chronic lymphocytic leukemia (CLL) and myelodysplastic syndromes (MDSs). These mutations have different effects on the disease prognosis with beneficial effect in MDS and worse prognosis in CLL patients. A full-length transcriptome approach can expand our knowledge on SF3B1 mutation effects on RNA splicing and its contribution to...

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Share to Leukemia, Lymphocytic, Chronic, B-Cell
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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: 39271291
DOI: 10.1101/gr.279327.124
PMCID: PMC11610591

Genes

SF3B1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations.PMID 39271291Read ↗

Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of <i>SF3B1</i> mutationsSemantic proximity Read ↗

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The K666N mutation in SF3B1 is associated with increased progression of MDS and distinct RNA splicing.Semantic proximity Read ↗

Full-length transcript characterization of SF3B1 mutation in chronic lymphocytic leukemia reveals downregulation of retained introns.Semantic proximity Read ↗

Clinical Characteristics and Molecular Profiling of SF3B1-Mutated Myelodysplastic Syndrome (MDS) in a Real-World Practice.Semantic proximity Read ↗

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