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   Articles with "sf3b1" as a keyword



Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.

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recommendations! Published in 2021 at "Molecular oncology"

DOI: 10.1002/1878-0261.13128

Abstract: Uveal melanoma (UM) is the most common intraocular tumor in adults. Recurrent mutations in BRCA1-associated protein 1 (BAP1) and splicing factor 3B subunit 1 (SF3B1) display a mutually exclusive pattern in UM, but the underlying… read more here.

Keywords: melanoma; sf3b1; bap1; senescence ... See more keywords

Exploiting Cryo-EM Structural Information and All-Atom Simulations To Decrypt the Molecular Mechanism of Splicing Modulators

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recommendations! Published in 2020 at "Journal of chemical information and modeling"

DOI: 10.1021/acs.jcim.9b00635

Abstract: Splicing modulators (SMs) pladienolides, herboxidienes and spliceostatins exert their antitumor activity by altering the ability of SF3B1 and PHF5A proteins, components of SF3b splicing factor, to recognize distinct intron branching point sequences, thus finely calibrating… read more here.

Keywords: structural information; sf3b1; cryo structural; information ... See more keywords

101 SF3B1 Mutation and Overlapping Features of MDS/MPN-SF3B1-T and CLL: A Diagnostic Challenge

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recommendations! Published in 2025 at "American Journal of Clinical Pathology"

DOI: 10.1093/ajcp/aqaf121.231

Abstract: SF3B1 mutations are associated with several hematologic malignancies, including chronic lymphocytic leukemia (CLL) and myelodysplastic/myeloproliferative neoplasms with SF3B1 mutation and thrombocytosis (MDS/MPN-SF3B1-T). CLL cases with SF3B1 mutations often show 11q deletions, while MDS/MPN-SF3B1-T is typically… read more here.

Keywords: cll; sf3b1; mds mpn; sf3b1 mutation ... See more keywords

Abstract 4654: Hotspot mutations in the core spliceosomal protein SF3B1 promote breast tumorigenesis

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recommendations! Published in 2019 at "Tumor Biology"

DOI: 10.1158/1538-7445.am2019-4654

Abstract: The core RNA splicing factor SF3B1 is targeted by recurrent hotspot mutations in leukemias and solid tumors with the K700E substitution observed in 2% of unselected breast cancer patients. These mutations promote usage of aberrant… read more here.

Keywords: hotspot mutations; cancer; k700e; breast cancer ... See more keywords

Mutations in the RNA Splicing Factor SF3B1 Promote Transformation through MYC Stabilization

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recommendations! Published in 2018 at "Blood"

DOI: 10.1182/blood-2018-99-110328

Abstract: Mutations in the RNA splicing factor SF3B1 are recurrent in CLL and myeloid neoplasms but their functional role in promoting tumorigenesis remain poorly understood. While SF3B1 mutations have been identified as promoting use of aberrant… read more here.

Keywords: sf3b1; mutant cells; figure; mutant sf3b1 ... 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

Mitochondrial Transcriptional-Translational Conflict Contributes to Defective Erythropoiesis and Disease Progression in Splicing Factor Mutant Myelodysplastic Syndromes

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recommendations! Published in 2024 at "Blood"

DOI: 10.1182/blood-2024-204428

Abstract: Myelodysplastic syndromes (MDS) are myeloid malignancies derived from hematopoietic stem progenitor cells (HSPCs), characterized by cytopenia, dysplastic and ineffective hematopoiesis and a high risk of developing acute myeloid leukemia. SF3B1 is the most frequently mutated… read more here.

Keywords: sf3b1 k700e; sf3b1; mds; translation ... 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

SF3B1 mutations are associated with shorter time to first treatment in chronic lymphocytic leukemia

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recommendations! Published in 2025 at "Blood"

DOI: 10.1182/blood-2025-3906

Abstract: Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous hematologic malignancy. The identification of risk factors has enhanced prognostic stratification. Next-generation sequencing (NGS) has enabled the comprehensive characterization of the genomic landscape of CLL. This study… read more here.

Keywords: time; group; sf3b1; sf3b1 mutations ... See more keywords

Distinct Clinical Phenotypes of Patients with Myeloid Neoplasms Carrying SF3B1 Hotspot Mutations

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recommendations! Published in 2017 at "Blood"

DOI: 10.1182/blood.v130.suppl_1.2961.2961

Abstract: Background: Mutations in the pre-mRNA splicing factor SF3B1 are now established as one of the classification criteria in myelodysplastic syndromes (MDS) and their presence constitutes a disease subset with distinctive biological features, clinical outcomes and… read more here.

Keywords: sf3b1; myeloid neoplasms; response; clinical phenotypes ... See more keywords