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lenalidomide response was adversely affected by U2AF1 mutations and high risk karyotype in MDS
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Langerhans Cell Histiocytosis is a clonally heterogenous disease, with multiple driver mutations ranging from BRAF mutations to TP53 and U2AF1 mutations likely playing a role in the pathogenesis.
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U2AF1 in association with its binding partner U2AF2, binds mature RNA in the cytoplasm and functions asa translational repressor
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Inhibition of IRAK4-L abrogates leukaemic growth, particularly in acute myeloid leukaemia (AML) cells with higher expression of the IRAK4-L isoform. Collectively, mutations in U2AF1 induce expression of therapeutically targetable 'active' IRAK4 isoforms and provide a genetic link to activation of chronic innate immune signalling in myelodysplastic syndromes and AML.
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U2AF1 mutation types in primary myelofibrosis.
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This meta-analysis indicates a positive effect of SF3B1 and an adverse prognostic effect of SRSF2, U2AF1, and ZRSR2 mutations in patients with myelodysplastic syndrome.
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Among 52 patients with U2AF1 mutations, 28 (54%) harbored S34 (25 S34F and 3 S34Y), 22 (42%) Q157 (16 Q157P and 6 Q157R), and two R156H
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Although 13 of 66 patients with the U2AF1 Q157 mutation had EZH2 mutations or deletions, no genetic alteration of EZH2 was found in the U2AF1 S34-mutated (n=32).
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Study thus points to an active role of U2AF1 S34F mutant protein in inducing cell cycle dysregulation and mitotic stress.
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The splicing effects of sudemycin and U2AF1 can be cumulative in cells exposed to both perturbations-drug and mutation, as compared with cells exposed to either alone.
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In univariable analysis, patients carrying mutations in DNMT3A, U2AF1, and EZH2 had worse overall and relapse-free survival.
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U2AF1 mutations are one of the earliest genetic events in myelodysplastic syndrome patients and different types of U2AF1 mutations have distinct clinical and biological characteristics.
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In summary, we provide insight into the underlying molecular mechanism of U2AF binding to 3' splice sites.
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data confirm MLL-PTD and, to a lesser extent, FLT3-ITD as common events in +11 AML.6, 7, 8 However, the high mutation frequencies of U2AF1 and genes involved in methylation (DNMT3A, IDH2) have hitherto not been reported in +11 AML
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this study characterized novel candidate pediatric T-cell acute lymphoblastic leukemia driver mutation in splicesome factor U2AF1
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U2AF35 missense mutation is associated with alternative 5' splice site that impacts splicing regulation in cancer.
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The frequently mutated SF3B1 residues contact the pre-mRNA splice site. Based on structural homology with other spliceosome subunits, and recent findings of altered RNA binding by mutant U2AF1 proteins, we suggest that affected U2AF1 residues also contact pre-mRNA.
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The aberrantly spliced target genes and deregulated cellular pathways associated with the commonly mutated splicing factor genes in myelodysplastic syndromes (SF3B1, SRSF2 and U2AF1) are being identified, illuminating the molecular mechanisms underlying the disease. (Review)
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infer that U2AF1 S34 mutations characterize a distinct subgroup of myelodysplastic syndrome
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Expression of U2AF1S34F in human hematopoietic progenitors results in impaired erythroid differentiation as a result of poor hemoglobinization and reduced growth of erythroid progenitors.