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Cyclin-dependent kinase 1 (CDK1) and CDK2 have opposing roles in regulating interactions of splicing factor 3B1 with chromatin
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The NOTCH1 and SF3B1 mutations accompany biological markers of unfavorable prognosis in patients with chronic lymphocytic leukemia.
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Small but widespread reduction of intron-retaining isoforms is the most frequent splicing alteration in bone marrow samples from myelodysplasia patients.
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PHF5A-SF3B1 forms a central node for binding to splicing modulators
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SF3B1 Mutation is associated with Myelodysplastic Syndrome.
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Prognostic interaction between bone marrow morphology and SF3B1 and ASXL1 mutations in myelodysplastic syndromes with ring sideroblasts.
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SF3B1 mutations were also associated with del(11q), which is prognostically different from inv(3)(q21q26.2)
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Results find that SF3B1 retained intron 4 (i4) harbors cryptic exons that are highly conserved and decoy exon E4e can promote intron retention at heterologous sites.
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Integrated ERK1/ERK2 response to B-cell receptor stimulation and SF3B1 gene mutations refine prognosis in chronic lymphocytic leukemia.
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could confirm the very good prognosis of MDS patients with del(11q) as described in the IPSS-R and identified a very high frequency of SF3B1 mutations, a relatively low ASXL1 and TP53 mutation frequency, as well as a lack of EZH2 mutations as possible molecular reason for this favorable outcome
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SF3B1R625C/H mutations were enriched in non-uveal melanoma compared to other "hotspot" mutations. SF3B1K700E mutations predominated in breast carcinoma (8/11 samples, 73%), similar to myelodysplastic syndrome and chronic lymphocytic leukemia.
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In this report we show that patients with uveal melanoma harbor mutation-specific chromosomal patterns in the tumor. These chromosomal patterns are characterized by different types of chromosomal anomalies, thus illustrating that distinct biological mechanisms underlie uveal melanoma pathogenesis.
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Our findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue nevus-like melanoma from conventional epidermal-derived melanomas.
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Mutation in SF3B1 gene is associated with mucosal melanoma.
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These data provide a catalog of copy-number associated gene dependencies and identify partial copy-loss of wild-type SF3B1 as a novel, non-driver cancer gene dependency.
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although blocking the function of SF3b elicits a massive accumulation of unspliced pre-mRNAs in the nucleus, intron-containing transcripts can still bind the ALYREF export factor and be transported to the cytoplasm, where they trigger an alternative nonsense-mediated decay pathway.
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this study shows that DNMT3A mutations are present in a significant proportion of SF3B1mut patients with RARS and its presence has a clearly negative impact on outcomes, determining a higher RBC transfusion dependency, higher risk of progression to AML, and lower OS.
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Somatic SF3B1 mutations are associated with metastatic NUT midline carcinoma.
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Fanconi anemia FANCD2 and FANCI proteins regulate the nuclear dynamics of splicing factors, such as SF3B1.
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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.
