Results 21 to 30 of about 21,005 (271)
SF3B1 and the riddle of the ring sideroblast [PDF]
Blood, 2012 In this issue of Blood , Visconte and colleagues report on their investigations into the pathophysiologic effects of altered SF3B1 in patients with myelodysplastic syndromes (MDS).[1][1] A crucial component of the spliceosomal U2snRNP complex, SF3B1 participates in normal RNA splicing.
Norbert Gattermann
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SUGP1 loss drives SF3B1 hotspot mutant missplicing in cancer [PDF]
Cell ReportsSummary: SF3B1 is the most frequently mutated splicing factor in cancer. Such mutations cause missplicing by promoting aberrant 3′ splice site usage; however, how this occurs mechanistically remains controversial.
Peiqi Xing +5 more
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SF3B1 mutation and ATM deletion codrive leukemogenesis via centromeric R-loop dysregulation
The Journal of Clinical Investigation, 2023 RNA splicing factor SF3B1 is recurrently mutated in various cancers, particularly in hematologic malignancies. We previously reported that coexpression of Sf3b1 mutation and Atm deletion in B cells, but not either lesion alone, leads to the onset of ...
Martina Cusan +18 more
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Distinct routes of clonal progression in SF3B1-mutant myelodysplastic syndromes [PDF]
Blood Advances: Myelodysplastic syndromes (MDS) are clonal stem cell disorders driven by heterogeneous genetic alterations leading to variable clinical course. MDS with splicing factor SF3B1 mutations is a distinct subtype with a favorable outcome.
Martina Sarchi +15 more
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Silencing SF3B1 promotes apoptosis and inhibits proliferation and invasion of human lung cancer cell line A549 [PDF]
Jichu yixue yu linchuang, 2023 Objective To explore the effect of splicing factor 3B subunit (SF3B1) on apoptosis, proliferation and invasion of human lung cancer cells. Methods Non-small cell lung cancer(NSCLC) patients in the General Hospital of Western Theater Command PLA from ...
ZHANG Xiaowan, KANG Xia, YAO Xiaoying, XIE Fang, LI Ying
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SF3B1 mutant myelodysplastic syndrome: Recent advances [PDF]
Advances in Biological Regulation, 2021 The myelodysplastic syndromes (MDS) are common myeloid malignancies. Mutations in genes encoding different components of the spliceosome occur in more than half of all MDS patients. SF3B1 is the most frequently mutated splicing factor gene in MDS, and there is a strong association between SF3B1 mutations and the presence of ring sideroblasts in the ...
Pellagatti, A, Boultwood, J
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Somatic SF3B1 hotspot mutation in prolactinomas [PDF]
Nature Communications, 2020 AbstractThe genetic basis and corresponding clinical relevance of prolactinomas remain poorly understood. Here, we perform whole genome sequencing (WGS) on 21 patients with prolactinomas to detect somatic mutations and then validate the mutations with digital polymerase chain reaction (PCR) analysis of tissue samples from 227 prolactinomas. We identify
Chuzhong Li +24 more
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SF3B1 Mutations in Hematological Malignancies
Cancers, 2022 Recently, mutations in the genes involved in the spliceosome have attracted considerable interest in different neoplasms. Among these, SF3B1 mutations have acquired great interest, especially in myelodysplastic syndromes, as they identify a subgroup of patients who can benefit from personalized therapy. The SF3B1 gene encodes the largest subunit of the
Daniela Cilloni +3 more
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Pre-mRNA splicing-associated diseases and therapies
RNA Biology, 2023 Precursor mRNA (pre-mRNA) splicing is an essential step in human gene expression and is carried out by a large macromolecular machine called the spliceosome.
Sierra L. Love +3 more
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