Cancer-Linked SF3B1 Mutations Cause Faulty Splicing and SUGP1 Binding.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer discovery"
DOI: 10.1158/2159-8290.cd-rw2019-138
Abstract: SF3B1 mutations, common in myelodysplastic syndromes, cause SUGP1-mediated splicing defects. read more here.
Keywords: linked sf3b1; mutations cause; cancer; cause faulty ... See more keywords
Molecular and Clinical Aspects of Acute Myeloid Leukemia with Inv(3)(q21q26)/t(3;3)(q21;q26) Carrying Spliceosomal Mutations
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DOI: 10.1182/blood-2020-139953
Abstract: Inversion or translocation of the chromosome 3, specifically inv(3)(q21q26.2/ t(3;3)(q21;q26.2) are present in 1-2% of acute myeloid leukemia (AML) cases and are classified as a distinct entity in the 2016 WHO classification. Hallmark genetic alterations… read more here.
Keywords: sf3b1 mutations; inv; aml inv; inv aml ... See more keywords
Distinct Clinical Phenotypes of Patients with Myeloid Neoplasms Carrying SF3B1 Hotspot Mutations
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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
Recurrent hotspot SF3B1 mutations at codon 625 in vulvovaginal mucosal melanoma identified in a study of 27 Australian mucosal melanomas
Sign Up to like & getrecommendations! 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
Co-mutation of ASXL1 and SF3B1 Predicts Poorer Overall Survival Than Isolated ASXL1 or SF3B1 Mutations
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DOI: 10.21873/invivo.13172
Abstract: Background/Aim: Mutations in the ASXL transcriptional regulator 1 (ASXL1) and splicing factor 3b subunit 1(SF3B1) genes are commonly observed in myeloid neoplasms and are independent predicative factors for overall survival (OS). Only a few contradictory… read more here.
Keywords: sf3b1 mutations; asxl1 sf3b1; overall survival; mutation asxl1 ... See more keywords
SF3B1 mutations in myelodysplastic syndromes: A potential therapeutic target for modulating the entire disease process
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2023.1116438
Abstract: Myelodysplastic syndromes (MDS) are clonal hematologic malignancies characterized by ineffective hematopoiesis and dysplasia of the myeloid cell lineage and are characterized by peripheral blood cytopenia and an increased risk of transformation to acute myeloid leukemia… read more here.
Keywords: mutations myelodysplastic; sf3b1 mutations; myelodysplastic syndromes; disease ... See more keywords
SF3B1 Mutations in Hematological Malignancies
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DOI: 10.3390/cancers14194927
Abstract: Simple Summary In recent years, spliceosome mutations have become of diagnostic and prognostic interest in several malignancies, as alternative splice mRNA isoforms are often associated with neoplasia. The role played by SF3B1, one of the… read more here.
Keywords: sf3b1 mutations; interest; hematological malignancies; mutations hematological ... See more keywords