Background and Aim Chronic lymphocytic leukemia (CLL) is a monoclonal malignancy of B lymphocytes. Since common mutations in NOTCH1 and SF3B1, along with other possible chromosomal alterations, change disease severity and survival of patients with CLL ...
Reza Sadria +4 more
doaj +1 more source
The SF3B1 R625H mutation promotes prolactinoma tumor progression through aberrant splicing of DLG1
Background Recently, a hotspot mutation in prolactinoma was observed in splicing factor 3b subunit 1 (SF3B1 R625H ), but its functional effects and underlying molecular mechanisms remain largely unexplored.
Jing Guo +7 more
doaj +1 more source
Splicing factor 3B subunit 1 (SF3B1) is the largest component of SF3b protein complex which is involved in the pre-mRNA splicing mechanism. Somatic mutations of SF3B1 were shown to be associated with aberrant splicing, producing abnormal transcripts that
Asmaa Samy +2 more
doaj +1 more source
Comparison of SF3B1/DNMT3A Comutations With DNMT3A or SF3B1 Mutation Alone in Myelodysplastic Syndrome and Clonal Cytopenia of Undetermined Significance [PDF]
Abstract Objectives To compare the clinical significance of SF3B1/DNMT3A Comutations with SF3B1 or DNMT3A mutation alone in myelodysplastic syndrome (MDS) and clonal cytopenia of undetermined significance (CCUS). Methods We identified
Hailing Zhang +9 more
openaire +2 more sources
Lack of SF3B1 R625 mutations in cutaneous melanoma [PDF]
Abstract Background Melanoma is a deadly disease affecting people worldwide. Genetic studies have identified different melanoma subtypes characterized by specific recurrently mutated genes and led to the successful clinical introduction of targeted therapies.
Schilling, Bastian +7 more
openaire +2 more sources
SF3B1 is a stress-sensitive splicing factor that regulates both HSF1 concentration and activity. [PDF]
The heat shock response (HSR) is a well-conserved, cytoprotective stress response that activates the HSF1 transcription factor. During severe stress, cells inhibit mRNA splicing which also serves a cytoprotective function via inhibition of gene ...
Karen S Kim Guisbert, Eric Guisbert
doaj +1 more source
Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients [PDF]
Mutations in splicing factor genes have a severe impact on the survival of cancer patients. Splicing factor 3b subunit 1 (SF3B1) is one of the most frequently mutated genes in chronic lymphocytic leukemia (CLL); patients carrying these mutations have a ...
Mücke, O. +28 more
core +1 more source
SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas [PDF]
Introduction: Like uveal melanomas, primary leptomeningeal melanocytic neoplasms (LMNs) frequently carry GNAQ and GNA11 mutations. However, it is currently unknown whether these LMNs harbor mutations in BAP1, SF3B1 and/or EIF1AX like uveal melanomas as ...
Wesseling, Pieter +39 more
core +3 more sources
Altered selection of branch sites by sf3b1 mutants.
(A) Schematic graph for identification of BS by nested lariat RT-PCR and sequencing. cDNA from the intronic lariat is transcribed using an intron-specific antisense primer P1′, and then amplified by two-steps PCRs using primer sets P1′ + P1 and P2′ + P2.
Bei Zhang (428038) +5 more
core +1 more source
SF3B1 promotes tumor malignancy through splicing-independent co-activation of HIF1α [PDF]
Heterozygous mutations in the splicing factor SF3B1 are frequently occurring in various cancers and drive tumor progression through the activation of cryptic splice sites in multiple genes.
Cortijo, Cédric +21 more
core +1 more source

