Results 61 to 70 of about 21,005 (271)

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. [PDF]

, 2015
Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise ...
Ganser, Arnold, Grossmann, Vera, Haferlach, Torsten, Kanojia, Deepika, Koeffler, H Phillip, Kohlmann, Alexander, Li, Jia, Madan, Vikas, Miyano, Satoru, Ogawa, Seishi, Okamoto, Ryoko, Sanada, Masashi, Sato-Otsubo, Aiko, Shiraishi, Yuichi, Sundaresan, Janani, Thol, Felicitas, Yang, Henry   +16 more
core   +5 more sources

Inhibition of SF3b1 by pladienolide B evokes cycle arrest, apoptosis induction and p73 splicing in human cervical carcinoma cells

Artificial Cells, Nanomedicine, and Biotechnology, 2019
Pladienolide B is a potent cancer cell growth inhibitor that targets the SF3b1 subunit of the spliceosome. There is considerable interest in the compound as a tool to study SF3b1 function in cancer.
Qianjing Zhang, Cuixia Di, Junfang Yan, Fang Wang, Tao Qu, Yupei Wang, Yuhong Chen, Xuetian Zhang, Yang Liu, Hongying Yang, Hong Zhang   +10 more
doaj   +1 more source

Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers. [PDF]

PLoS Computational Biology, 2015
Mutations in the splicing factor SF3B1 are found in several cancer types and have been associated with various splicing defects. Using transcriptome sequencing data from chronic lymphocytic leukemia, breast cancer and uveal melanoma tumor samples, we ...
Christopher DeBoever, Emanuela M Ghia, Peter J Shepard, Laura Rassenti, Christian L Barrett, Kristen Jepsen, Catriona H M Jamieson, Dennis Carson, Thomas J Kipps, Kelly A Frazer   +9 more
doaj   +1 more source

A Low Frequency of Losses in 11q Chromosome Is Associated with Better Outcome and Lower Rate of Genomic Mutations in Patients with Chronic Lymphocytic Leukemia [PDF]

, 2015
This work was supported by grants from the Spanish Fondo de Investigaciones Sanitarias FIS09/01543, PI12/00281 and PI15/01471, Instituto de Salud Carlos III (ISCIII), European Regional Development Fund (ERDF) "Una manera de hacer Europa", Proyectos de ...
Hernández Sánchez, María, Hernández, José Ángel, Luño Fernández, Elisa, Rodríguez Vicente, Ana Eugenia   +3 more
core   +2 more sources

SF3B1 mutations provide genetic vulnerability to copper ionophores in human acute myeloid leukemia

Science Advances
In a phenotypical screen of 56 acute myeloid leukemia (AML) patient samples and using a library of 10,000 compounds, we identified a hit with increased sensitivity toward SF3B1-mutated and adverse risk AMLs.
Céline Moison, Deanne Gracias, Julie Schmitt, Simon Girard, Jean-François Spinella, Simon Fortier, I. Boivin, R. Mendoza-Sanchez, B. Thavonekham, Tara MacRae, N. Mayotte, É. Bonneil, Mark Wittman, James Carmichael, Réjean Ruel, Pierre Thibault, J. Hébert, A. Marinier, Guy Sauvageau   +18 more
semanticscholar   +1 more source

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
openaire   +4 more sources

Splicing-factor alterations in cancers [PDF]

, 2016
Tumor-associated alterations in RNA splicing result either from mutations in splicing-regulatory elements or changes in components of the splicing machinery.
Anczukow, O., Krainer, A. R.
core   +1 more source

Vitamin B5 and succinyl-CoA improve ineffective erythropoiesis in SF3B1 mutated myelodysplasia

Science Translational Medicine, 2023
Patients with myelodysplastic syndrome and ring sideroblasts (MDS-RS) present with symptomatic anemia due to ineffective erythropoiesis that impedes their quality of life and increases morbidity.
S. Mian, C. Philippe, E. Maniati, P. Protopapa, T. Bergot, M. Piganeau, T. Nemkov, D. Di Bella, V. Morales, A. Finch, Angelo D’Alessandro, K. Bianchi, Jun Wang, P. Gallipoli, S. Kordasti, A. Kubasch, Michael Cross, U. Platzbecker, D. Wiseman, D. Bonnet, Delphine G. Bernard, J. Gribben, K. Rouault-Pierre   +22 more
semanticscholar   +1 more source

CRISPR editing of sftb-1/SF3B1 in Caenorhabditis elegans allows the identification of synthetic interactions with cancer-related mutations and the chemical inhibition of splicing.

PLoS Genetics, 2019
SF3B1 is the most frequently mutated splicing factor in cancer. Mutations in SF3B1 likely confer clonal advantages to cancer cells but they may also confer vulnerabilities that can be therapeutically targeted.
Xènia Serrat, Dmytro Kukhtar, Eric Cornes, Anna Esteve-Codina, Helena Benlloch, Germano Cecere, Julián Cerón   +6 more
doaj   +1 more source

Copy-number and gene dependency analysis reveals partial copy loss of wild-type SF3B1 as a novel cancer vulnerability

eLife, 2017
Genomic instability is a hallmark of human cancer, and results in widespread somatic copy number alterations. We used a genome-scale shRNA viability screen in human cancer cell lines to systematically identify genes that are essential in the context of ...
Brenton R Paolella, William J Gibson, Laura M Urbanski, John A Alberta, Travis I Zack, Pratiti Bandopadhayay, Caitlin A Nichols, Pankaj K Agarwalla, Meredith S Brown, Rebecca Lamothe, Yong Yu, Peter S Choi, Esther A Obeng, Dirk Heckl, Guo Wei, Belinda Wang, Aviad Tsherniak, Francisca Vazquez, Barbara A Weir, David E Root, Glenn S Cowley, Sara J Buhrlage, Charles D Stiles, Benjamin L Ebert, William C Hahn, Robin Reed, Rameen Beroukhim   +26 more
doaj   +1 more source