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   Articles with "sf3b1 mutant" as a keyword



SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes

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recommendations! Published in 2021 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2111703119

Abstract: Significance Myelodysplastic syndromes (MDS) are the most commonly diagnosed malignancy of the elderly in the United States, but what causes severe anemia in MDS has been unknown. Our findings provide a detailed mechanism underlying the… read more here.

Keywords: differentiation; sf3b1 mutant; mds patients; map3k7 ... See more keywords

Abstract 483: RNA-missplicing dependent nucleic acid therapeutics for SF3B1-mutant cancers

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recommendations! Published in 2025 at "Cancer Research"

DOI: 10.1158/1538-7445.am2025-483

Abstract: Cancer therapies face the challenge of specificity-limiting toxicity to normal cells and maximizing it in malignant ones. The last two decades have seen significant advancements in therapeutics that increase specificity; however, these remain elusive for… read more here.

Keywords: nucleic acid; specificity; sf3b1 mutant; acid therapeutics ... See more keywords

Dependency of Spliceosomal Mutant MDS on Innate Immune Signaling

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recommendations! Published in 2018 at "Blood"

DOI: 10.1182/blood-2018-99-111552

Abstract: Mutations in genes encoding RNA splicing factors constitute the most common class of genetic alterations in patients with myelodysplastic syndromes (MDS). These occur as heterozygous point mutations at specific amino acid residues in SF3B1, SRSF2,… read more here.

Keywords: sf3b1; map3k7; figure; sf3b1 mutant ... See more keywords
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Coordinated Mis-Splicing of Multiple Mitochondrial Iron Metabolism Genes Causes Ring Sideroblast Formation in SF3B1-Mutant MDS

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recommendations! Published in 2020 at "Blood"

DOI: 10.1182/blood-2020-140817

Abstract: Splicing is a fundamental process by which introns are removed from primary RNA transcripts. Alternative splicing is a major mechanism of gene regulation by which eukaryotic cells expand their transcriptional repertoire. By contrast, aberrant splicing… read more here.

Keywords: sf3b1; formation; sf3b1 mutant; mutant sf3b1 ... See more keywords

SF3B1 Mutations Promote Pervasive Metabolic Reprogramming and Enhanced Sensitivity to Glycolysis Inhibition

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recommendations! Published in 2024 at "Blood"

DOI: 10.1182/blood-2024-207364

Abstract: Background The splicing factor gene SF3B1 is frequently mutated in clonal hematopoiesis (CH) and detected in approximately 30% of myelodysplastic syndromes (MDS). SF3B1 mutations promote widespread aberrant splicing, but the consequences of many splicing alterations… read more here.

Keywords: sf3b1 k700e; sf3b1 mutant; sf3b1; k700e ... See more keywords
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Validation of the International Working Group Proposal for SF3B1 Mutant Myelodysplastic Syndromes.

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recommendations! Published in 2021 at "Blood"

DOI: 10.1182/blood.2021010831

Abstract: Komrokji et al examined the proposed international working group proposal to designate SF3B1-mutant myelodysplastic syndrome (MDS) as a unique disease entity, using a single-institution validation cohort of 1779 MDS patients, of whom 320 harbored SF3B1… read more here.

Keywords: mutant myelodysplastic; working group; international working; sf3b1 mutant ... See more keywords