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Cancer associated SF3B1 hotspot mutations induce cryptic 3' splice site selection through use of a different branch point
- Authors
- Seiler, MichaelBuonamici, Silvia
- Description
Summary from GEO: "Recurrent mutations in the spliceosome are observed in several human cancers but their functional and therapeutic significance remain elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of the branch point sequence (BPS) during selection of the 3’ splice site (ss) in RNA splicing. Here, we report that common and tumor-specific...
- Subject
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MutationNonsense Mediated mRNA DecayRNA SplicingSpliceosomes
- Access Rights
- Free to All
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Physiologic expression of Sf3b1K700E causes impaired erythropoieses, aberrant splicing, and sensitivity to pharmacologic spliceosome modulation
- Authors
- Seiler, MichaelObeng, Esther A.
- Description
Summary from GEO: "Over 80% of patients with the refractory anemia with ring sideroblasts subtype of myelodysplastic syndrome (MDS) have mutations in Splicing Factor 3B, Subunit 1 (SF3B1). We generated a conditional knock-in mouse model of the most common SF3B1 mutation, Sf3b1K700E. Sf3b1K700E mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and...
- Subject
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Anemia, MacrocyticAnemia, RefractoryErythropoiesisGene Expression ProfilingMyelodysplastic SyndromesSpliceosomes
- Access Rights
- Free to All
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scRNAseq data of scrambled and siRNA-mediated knock-down of the minor spliceosome snRNA U6atac
- Description
Description from EGA: "scRNAseq data of scrambled and siRNA-mediated knock-down (96h) of the minor spliceosome snRNA U6atac in androgen-sensitive LNCaP cells and in patient derived neuroendocrine organoids (PM154). Three replicates for each cell line."
- Subject
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Cell Line, TumorProstatic Neoplasms, Castration-ResistantSingle-Cell Gene Expression AnalysisSpliceosomes
- Access Rights
- Application Required
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Bulk RNAseq data of scrambled and siRNA-mediated knock-down of the minor spliceosome snRNA U6atac
- Description
Description from EGA: "Bulk RNAseq data of scrambled and siRNA-mediated knock-down of the minor spliceosome snRNA U6atac in androgen-sensitive LNCaP cells (L), androgen-insensitive C4-2 (C) and 22Rv1 (R) cells and in patient derived neuroendocrine organoids PM154 (P)."
- Subject
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Cell Line, TumorProstatic Neoplasms, Castration-ResistantRNA-SeqSpliceosomes
- Access Rights
- Application Required
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Minor intron splicing is critical for survival of lethal prostate cancer (raw images)
- Authors
- Rubin, Mark A.
- Description
Description from Mendeley Data: "Men with androgen receptor-negative castration-resistant prostate cancer (ARN CRPC) do not benefit from androgen receptor-directed therapies, face low survival rates, and have few alternative therapeutic options. Addressing this unmet clinical need requires new approaches to identify this more aggressive form of disease early on and to treat it effectively. A recent...
- Subject
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Introns/geneticsProstatic Neoplasms, Castration-ResistantReceptors, AndrogenRNAi TherapeuticsSpliceosomes
- Access Rights
- Free to All