Results 51 to 60 of about 16,846 (200)

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   +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

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   +1 more source

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia [PDF]

, 2017
This study was supported by the Instituto de Salud Carlos III (ISCIII) PMP15/00007; Ministerio de Economía y Competitividad (MINECO) SAF2015-64885-R; Generalitat de Catalunya AGAUR 2014-SGR-795; and Gilead Spain (GLD15/00288).
Clot, G., Delgado, J., López Otín, Carlos, Nadeu, Ferrán, Suárez Puente, Xosé Antón   +4 more
core   +2 more sources

SF3B1 inhibition disrupts malignancy and prolongs survival in glioblastoma patients through BCL2L1 splicing and mTOR/ß-catenin pathways imbalances

Journal of Experimental & Clinical Cancer Research, 2022
Background Glioblastoma is one of the most devastating cancer worldwide based on its locally aggressive behavior and because it cannot be cured by current therapies. Defects in alternative splicing process are frequent in cancer.
Antonio C. Fuentes-Fayos, Jesús M. Pérez-Gómez, Miguel E. G-García, Juan M. Jiménez-Vacas, Cristóbal Blanco-Acevedo, Rafael Sánchez-Sánchez, Juan Solivera, Joshua J. Breunig, Manuel D. Gahete, Justo P. Castaño, Raúl M. Luque   +10 more
doaj   +1 more source

The outcome of Chronic lymphocytic leukaemia patients with 97% IGHV gene identity to germline is distinct from cases with <97% identity and similar to those with 98% identity. [PDF]

, 2016
IGHV gene mutational status has prognostic significance in chronic lymphocytic leukaemia (CLL) but the percentage of mutations that correlates best with clinical outcome remains controversial.
Agathangelidis, Baliakas, Baliakas, Barbas, Bomben, Bulian, Catovsky, Cheson, Chu, Damle, Darzentas, Davis, Ghia, Hallek, Hamblin, Hamblin, Kanduri, Kröber, Marincevic, Messmer, Murray, Ntoufa, Orchard, Oscier, Oscier, Oscier, Packham, Paterson, Pepper, Pflug, Puente, Queirós, Rassenti, Rossi, Rossi, Rossi, Stamatopoulos, Stevenson, Strefford, Sutton, Tobin, Tobin, Tobin, Xochelli   +43 more
core   +1 more source

Comparison of SF3B1/DNMT3A Comutations With DNMT3A or SF3B1 Mutation Alone in Myelodysplastic Syndrome and Clonal Cytopenia of Undetermined Significance [PDF]

American Journal of Clinical Pathology, 2020
Abstract Objectives To compare the clinical significance of SF3B1/DNMT3A Comutations with SF3B1 or DNMT3A mutation alone in myelodysplastic syndrome (MDS) and clonal cytopenia of undetermined significance (CCUS). Methods We identified
Hailing Zhang, Lynn Moscinski, Pukhraz Basra, David Gajzer, Ling Zhang, Haipeng Shao, Xiaohui Zhang, Dahui Qin, Mohammad Hussaini, Jinming Song   +9 more
openaire   +2 more sources

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

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

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

Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point

Cell Reports, 2015
Recurrent mutations in the spliceosome are observed in several human cancers, but their functional and therapeutic significance remains elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of ...
Rachel B. Darman, Michael Seiler, Anant A. Agrawal, Kian H. Lim, Shouyong Peng, Daniel Aird, Suzanna L. Bailey, Erica B. Bhavsar, Betty Chan, Simona Colla, Laura Corson, Jacob Feala, Peter Fekkes, Kana Ichikawa, Gregg F. Keaney, Linda Lee, Pavan Kumar, Kaiko Kunii, Crystal MacKenzie, Mark Matijevic, Yoshiharu Mizui, Khin Myint, Eun Sun Park, Xiaoling Puyang, Anand Selvaraj, Michael P. Thomas, Jennifer Tsai, John Y. Wang, Markus Warmuth, Hui Yang, Ping Zhu, Guillermo Garcia-Manero, Richard R. Furman, Lihua Yu, Peter G. Smith, Silvia Buonamici   +35 more
doaj   +1 more source