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   Articles with "sf3b1" as a keyword



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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
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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
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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
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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
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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
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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
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Patient-specific MDS-RS iPSCs define the mis-spliced transcript repertoire and chromatin landscape of SF3B1-mutant HSPCs

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recommendations! Published in 2022 at "Blood Advances"

DOI: 10.1182/bloodadvances.2021006325

Abstract: Key Points Genetically matched MDS-RS and normal patient-specific iPSC-HSPCs are used to derive a mutant SF3B1 splicing signature. Integrated transcriptomics and chromatin accessibility nominate TEAD as a putative novel transcriptional regulator of SF3B1K700E cells. read more here.

Keywords: patient specific; ipscs define; mds ipscs; hspcs ... See more keywords
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Metastatic cutaneous apocrine carcinoma: a multidisciplinary approach incorporating endocrine therapy

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recommendations! Published in 2018 at "European Journal of Dermatology"

DOI: 10.1684/ejd.2018.3282

Abstract: and check for possible sequencing errors. We detected 29 somatic mutations, including a recurrent somatic R625C mutation in SF3B1 (frequency, 43.9%). Hotspot neomorphic SF3B1 mutations have been identified in uveal melanoma and subsequently in mucosal… read more here.

Keywords: sf3b1; mucosal melanoma; sf3b1 eif1ax; therapy ... See more keywords
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Recurrent hotspot SF3B1 mutations at codon 625 in vulvovaginal mucosal melanoma identified in a study of 27 Australian mucosal melanomas

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recommendations! Published in 2019 at "Oncotarget"

DOI: 10.18632/oncotarget.26584

Abstract: Introduction Clinical outcomes for mucosal melanomas are often poor due to a lack of effective systemic drug therapies. Identifying driver genes in mucosal melanoma may enhance the understanding of disease pathogenesis and provide novel opportunities… read more here.

Keywords: sf3b1; mucosal melanoma; sf3b1 mutations; mucosal ... See more keywords
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Human Cancer-Associated Mutations of SF3B1 Lead to a Splicing Modification of Its Own RNA

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recommendations! Published in 2020 at "Cancers"

DOI: 10.3390/cancers12030652

Abstract: Deregulation of pre-mRNA splicing is observed in many cancers and hematological malignancies. Genes encoding splicing factors are frequently mutated in myelodysplastic syndromes, in which SF3B1 mutations are the most frequent. SF3B1 is an essential component… read more here.

Keywords: sf3b1; associated mutations; human cancer; mutations sf3b1 ... See more keywords