Results 71 to 80 of about 19,190 (266)

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

HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease. [PDF]

, 2015
Fructose is a major component of dietary sugar and its overconsumption exacerbates key pathological features of metabolic syndrome. The central fructose-metabolising enzyme is ketohexokinase (KHK), which exists in two isoforms: KHK-A and KHK-C, generated
A Casonato, A Corrionero, A Hirschy, A Troilo, A Ventura, Alexandre Sarre, Ana Vukolic, AR Grosso, C Wang, CA Lewis, CJ David, CP Diggle, CP Diggle, Cédric Cortijo, Fiona Grimm, GL Semenza, GW Yip, H Dolatshad, H Kuroda, I Falcão-Pires, I Shiojima, J Fukuzawa, J Krishnan, J Krishnan, J König, J Rappsilber, JA Haefliger, JA Hill, Jaya Krishnan, Jernej Ule, JM Buescher, K-Y Kim, L van Heerebeek, LE Huang, M Fang, M Nemir, M Shiota, Manuel Hörl, Melis Kayikci, MG Vander Heiden, MG Vander Heiden, N-H Son, Nicola Zamboni, Niklaus Fankhauser, NL Barbosa-Morais, NS Radin, Owen Feehan, P Cirillo, Peter Mirtschink, R Koopman, R Ramasamy, S Bonnal, S Sharma, Samuel Sossalla, Sebastian N. Stehr, T Fuhrer, T Ishimoto, T Kawasaki, Thierry Pedrazzini, W Luo, WG Kaelin, Wilhelm Krek, Y Gao, Yann Christinat, Z Kassiri   +64 more
core   +2 more sources

Functional and conformational impact of cancer-associated SF3B1 mutations depends on the position and the charge of amino acid substitution

Computational and Structural Biotechnology Journal, 2021
The hotspot mutations of SF3B1, the most frequently mutated splicing gene in cancers, contribute to oncogenesis by corrupting the mRNA splicing. Further SF3B1 mutations have been reported in cancers but their consequences remain unclear.
Christine Canbezdi, Malcy Tarin, Alexandre Houy, Dorine Bellanger, Tatiana Popova, Marc-Henri Stern, Sergio Roman-Roman, Samar Alsafadi   +7 more
doaj  

Two oppositely-charged sf3b1 mutations cause defective development, impaired immune response, and aberrant selection of intronic branch sites in Drosophila

PLoS Genetics, 2021
SF3B1 mutations occur in many cancers, and the highly conserved His662 residue is one of the hotspot mutation sites. To address effects on splicing and development, we constructed strains carrying point mutations at the corresponding residue His698 in ...
Bei Zhang, Zhan Ding, Liang Li, Ling-Kun Xie, Yu-Jie Fan, Yong-Zhen Xu   +5 more
doaj   +2 more sources

SF3B1 Mutations Are Associated with Resistance to Non-Genotoxic MDM2 Inhibition in Chronic Lymphocytic Leukemia

International Journal of Molecular Sciences, 2023
Chronic lymphocytic leukemia (CLL) is a genetically and clinically heterogeneous malignancy affecting older individuals. There are a number of current treatment options for CLL, including monoclonal antibodies, targeted drugs, chemotherapy, and different
E. Aptullahoglu, J. Wallis, H. Marr, Scott Marshall, N. Bown, E. Willmore, J. Lunec   +6 more
semanticscholar   +1 more source

Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma [PDF]

Cancers, 2022
Approximately 25% of all uveal melanoma (UM) contain driver mutations in the gene encoding the spliceosome factor SF3B1, and whilst patients with such SF3B1 mutations generally have an intermediate risk on developing metastatic disease, a third of these patients develop early metastasis within 5 years after diagnosis.
Wojtek, Drabarek, Job, van Riet, Josephine Q N, Nguyen, Kyra N, Smit, Natasha M, van Poppelen, Rick, Jansen, Eva, Medico-Salsench, Jolanda, Vaarwater, Frank J, Magielsen, Tom, Brands, Bert, Eussen, Thierry P P van den, Bosch, Robert M, Verdijk, Nicole C, Naus, Dion, Paridaens, Annelies, de Klein, Erwin, Brosens, Harmen J G, van de Werken, Emine, Kilic, , On Behalf Of The Rotterdam Ocular Melanoma Study Group   +19 more
openaire   +3 more sources

Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients [PDF]

International Journal of Molecular Sciences, 2021
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 poor prognosis.
Alicja Pacholewska, Christina Grimm, Carmen D. Herling, Matthias Lienhard, Anja Königs, Bernd Timmermann, Janine Altmüller, Oliver Mücke, Hans Christian Reinhardt, Christoph Plass, Ralf Herwig, Michael Hallek, Michal R. Schweiger   +12 more
openaire   +6 more sources

Jerantinine A induces tumor-specific cell death through modulation of splicing factor 3b subunit 1 (SF3B1) [PDF]

, 2017
Precursor mRNA (pre-mRNA) splicing is catalyzed by a large ribonucleoprotein complex known as the spliceosome. Numerous studies have indicated that aberrant splicing patterns or mutations in spliceosome components, including the splicing factor 3b ...
Bradshaw, Tracey D., Chung, Felicia Fei-Lei, Hii, Ling-Wei, Kam, Toh-Seok, Leong, Chee-Onn, Lim, Kuan-Hon, Mai, Chun Wai, Raja, Vijay Joseph, See, Sze-Jia, Tan, Boon-Shing, Tan, Perry Faith Tze Ming, Tan, Si Hoey, Tan, Yuen-Fen, Wong, Li-Zhe, Yam, Wai Keat   +14 more
core   +1 more source

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

Metastatic disease in polyploid uveal melanoma patients is associated with BAP1 mutations [PDF]

, 2016
PURPOSE. Most of the uvea melanoma (UM) display a near-diploid (normal, ~2N) karyotype with only a few chromosomal changes. In contrast to these simple aberrations 18% of the UM samples show a polyploid character (>2N) and this was associated with an ...
Beverloo, H.B. (Berna), Brüggenwirth, H.T. (Hennie), Dubbink, H.J. (Erik Jan), Kiliç, E. (Emine), Klein, A. (Annelies) de, Marion, R. (Ronald) van, Mensink, H.W. (Hanneke), Naus, N.C. (Nicole), Paridaens, A.D.A. (Dion), Smit, K.N. (Kyra), Vaarwater, J. (Jolanda), Verdijk, R.M. (Robert), Yavuzyigitoglu, S. (Serdar)   +12 more
core   +1 more source