Results 11 to 20 of about 12,272 (217)

SF3B1 Mutations in Hematological Malignancies [PDF]

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, Jessica Petiti, Federico Itri   +2 more
exaly   +5 more sources

SF3B1 Association with Chromatin Determines Splicing Outcomes [PDF]

Cell Reports, 2015
Much remains unknown concerning the mechanism by which the splicing machinery pinpoints short exons within intronic sequences and how splicing factors are directed to their pre-mRNA targets.
Nir Kfir, Galit Lev-Maor, Ohad Glaich, Adi Alajem, Arnab Datta, Siu K. Sze, Eran Meshorer, Gil Ast   +7 more
doaj   +5 more sources

Glycolysis Dependency as a Hallmark of SF3B1-Mutated Cells

Cancers, 2022
SF3B1 mutations are recurrent in cancer and result in aberrant splicing of a previously defined set of genes. Here, we investigated the fate of aberrant transcripts induced by mutant SF3B1 and the related functional consequences. We first demonstrate that mutant SF3B1 does not alter global nascent protein synthesis, suggesting target-dependent ...
Alexandre Houy, Sergio Roman-Roman, Sylvain Martineau   +2 more
exaly   +4 more sources

The metabolic reprogramming and vulnerability of SF3B1 mutations [PDF]

Molecular & Cellular Oncology, 2020
Mutations in the splicing factor 3b subunit 1 (SF3B1) gene create a neomorphic protein that disrupts RNA splicing, but the downstream consequences of this missplicing are unclear.
W. Brian Dalton
doaj   +3 more sources

U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing [PDF]

Cells, 2020
Splicing factor 3b subunit 1 (SF3B1) is an essential protein in spliceosomes and mutated frequently in many cancers. While roles of SF3B1 in single intron splicing and roles of its cancer-linked mutant in aberrant splicing have been identified to some ...
Namjeong Choi, Yongchao Liu, Jagyeong Oh, Jiyeon Ha, Xuexiu Zheng, Haihong Shen   +5 more
doaj   +2 more sources

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts [PDF]

New England Journal of Medicine, 2011
Myelodysplastic syndromes are a diverse and common group of chronic hematologic cancers. The identification of new genetic lesions could facilitate new diagnostic and therapeutic strategies.We used massively parallel sequencing technology to identify somatically acquired point mutations across all protein-coding exons in the genome in 9 patients with ...
Papaemmanuil, E, Cazzola, M, Boultwood, J, Malcovati, L, Vyas, P, Bowen, D, Pellagatti, A, Wainscoat, JS, Hellstrom Lindberg, E, GAMBACORTI PASSERINI, CARLO, Godfrey, AL, Rapado, I, Cvejic, A, Rance, R, McGee, C, Ellis, P, Mudie, LJ, Stephens, PJ, McLaren, S, Massie, CE, Tarpey, PS, Varela, I, Nik Zainal, S, Davies, HR, Shlien, A, Jones, D, Raine, K, Hinton, J, Butler, AP, Teague, JW, Baxter, EJ, Score, J, Galli, A, Della Porta, MG, Travaglino, E, Groves, M, Tauro, S, Munshi, NC, Anderson, KC, El Naggar, A, Fischer, A, Mustonen, V, Warren, AJ, Cross, NC, Green, AR, Futreal, PA, Stratton, MR, Campbell, PJ, Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium   +48 more
core   +7 more sources

Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3’ splice sites

RNA Biology
SF3B1 is a core component of the spliceosome involved in branch point recognition and 3’ splice site selection. The SF3B1 K700E mutation (lysine to glutamic acid) is common in myelodysplastic syndrome and other blood disorders.
Austin Herbert, Abigail Hatfield, Alexandra Randazza, Valeria Miyamoto, Katie Palmer, Lela Lackey   +5 more
doaj   +2 more sources

Chronic myelomonocytic leukemia with ring sideroblasts/SF3B1 mutation presents with low monocyte count and resembles myelodysplastic syndromes with-RS/SF3B1 mutation in terms of phenotype and prognosis [PDF]

Frontiers in Oncology
IntroductionChronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS) with ring sideroblasts (RS) or SF3B1 mutation (MDS-RS/SF3B1) differ in many clinical features, but share others, such as anemia.
Blanca Xicoy, Helena Pomares, Mireia Morgades, Ulrich Germing, Montserrat Arnan, Mar Tormo, Laura Palomo, Elisa Orna, Matteo Della Porta, Felicitas Schulz, Marina Díaz-Beya, Ada Esteban, Antonieta Molero, Luca Lanino, Alejandro Avendaño, Francisca Hernández, Verónica Roldan, Marta Ubezio, Alberto Pineda, María Díez-Campelo, Lurdes Zamora   +20 more
doaj   +2 more sources

SF3B1 mutation in pancreatic cancer contributes to aerobic glycolysis and tumor growth through a PP2A–c-Myc axis

Molecular Oncology, 2021
Hot spot gene mutations in splicing factor 3b subunit 1 (SF3B1) are observed in many types of cancer and create abundant aberrant mRNA splicing, which is profoundly implicated in tumorigenesis.
Shuheng Jiang, Yang Shen, Yong-Wei Sun
exaly   +2 more sources

The biological function and clinical significance of SF3B1 mutations in cancer [PDF]

Biomarker Research, 2020
Spliceosome mutations have become the most interesting mutations detected in human cancer in recent years. The spliceosome, a large, dynamic multimegadalton small nuclear ribonucleoprotein composed of small nuclear RNAs associated with proteins, is ...
Zhixia Zhou, Qi Gong, Yin Wang, Mengkun Li, Lu Wang, Hongfei Ding, Peifeng Li   +6 more
doaj   +3 more sources