Results 1 to 10 of about 10,998 (173)

Mutant SF3B1 promotes malignancy in PDAC [PDF]

eLife, 2023
The splicing factor SF3B1 is recurrently mutated in various tumors, including pancreatic ductal adenocarcinoma (PDAC). The impact of the hotspot mutation SF3B1 K700E on the PDAC pathogenesis, however, remains elusive. Here, we demonstrate that Sf3b1 K700E
Simmler, Patrik, Ioannidi, Eleonora I, Mengis, Tamara, Marquart, Kim Fabiano, Asawa, Simran, Van-Lehmann, Kjong, Kahles, Andre, Thomas, Tinu, Schwerdel, Cornelia, Aceto, Nicola, Rätsch, Gunnar, Stoffel, Markus, Schwank, Gerald   +12 more
openaire   +6 more sources

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
openaire   +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 ...
Raquel Vivet-Noguer, Malcy Tarin, Christine Canbezdi, Stephane Dayot, Lisseth Silva, Alexandre Houy, Sylvain Martineau, Virginie Mieulet, Géraldine Gentric, Damarys Loew, Bérangère Lombard, Fariba Nemati, Sophie Richon, Lea Guyonnet, Vincent Servois, Stephan Vagner, Marc-Henri Stern, Sergio Roman-Roman, Samar Alsafadi   +18 more
openaire   +3 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   +6 more sources

SF3B1 Association with Chromatin Determines Splicing Outcomes

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. One probable explanation lies in differences in chromatin organization between exons and introns.
Kfir, Nir, Lev-Maor, Galit, Glaich, Ohad, Alajem, Adi, Datta, Arnab, Sze, Siu K., Meshorer, Eran, Ast, Gil   +7 more
openaire   +5 more sources

SF3B1 thermostability as an assay for splicing inhibitor interactions [PDF]

Journal of Biological Chemistry
The spliceosome protein, SF3B1, is associated with U2 snRNP during early spliceosome assembly for pre-mRNA splicing. Frequent somatic mutations in SF3B1 observed in cancer necessitates the characterization of its role in identifying the branchpoint adenosine of introns.
Angela N. Amorello, Guddeti Chandrashekar Reddy, Bruno Melillo, Benjamin F. Cravatt, Arun K. Ghosh, Melissa S. Jurica   +5 more
openaire   +5 more sources

A Bayesian-Based Integrative Bioinformatics Analysis Nominates Oncogenic Drivers in Neuroblastoma. [PDF]

Clin Transl Sci
ABSTRACT Identifying targetable oncogenic drivers remains a challenge in neuroblastoma, the most common extracranial solid malignancy in children. We applied a Bayesian algorithm for integrative analysis of expression and copy‐number, iExCN, to nominate oncogenic drivers in neuroblastoma.
Xu L, Sadanand A, Neczypor EW, Liu YT, Butler E, Moore K, Bowman F, Mazumder Y, Naranjo A, Chlenski A, Xiao X, Guo L, Cohn SL, Applebaum MA, Skapek SX.   +14 more
europepmc   +2 more sources

Diene Substitution Patterns in the Conformation-Activity Relationships of GEX1A. [PDF]

ChemMedChem
Synthetic analogues of GEX1A were designed and synthesised in an effort to explore the significance of diene substitution on the conformational preferences and expand our understanding of the three‐dimensional pharmacophore for this biologically active natural product.
Umaña CA, Rhodes MC, Henry JL, Ma D, Quinn TR, Taylor RE.   +5 more
europepmc   +2 more sources

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms

Biology, 2022
It has been reported that gene mutations in SF3B1 and PHF6 are mutually exclusive. However, this observation has never been rigorously assessed. We report the clinicopathologic and molecular genetic features of 21 cases of myeloid neoplasms with double mutations in SF3B1 and PHF6, including 9 (43%) with myelodysplastic syndrome, 5 (24%) with acute ...
Zhuang Zuo, L. Jeffrey Medeiros, Sofia Garces, Mark J. Routbort, Chi Young Ok, Sanam Loghavi, Rashmi Kanagal-Shamanna, Fatima Zahra Jelloul, Guillermo Garcia-Manero, Kelly S. Chien, Keyur P. Patel, Rajyalakshmi Luthra, C. Cameron Yin   +12 more
openaire   +4 more sources

The Impact of Spliceosome Inhibition in SF3B1-Mutated Uveal Melanoma [PDF]

Investigative Ophthalmology & Visual Science
Unfortunately, treatment of patients with uveal melanoma (UM) with metastatic disease is limited. Twenty percent of patients with UM harbor a mutation in the splicing factor gene SF3B1, suggesting that aberrant spliceosome function plays a vital role in tumorigenesis.
Nguyen, Josephine Q.N., Drabarek, Wojtek, Leeflang, Aïsha M.C.H.J., Brands, Tom, van den Bosch, Thierry P.P., Verdijk, Robert M., van de Werken, Harmen J.G., van Riet, Job, Paridaens, Dion, Klein, Annelies de, Brosens, Erwin, Kiliç, Emine   +11 more
core   +6 more sources