Results 81 to 90 of about 19,190 (266)

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

Splicing factor SF3B1K700E mutant dysregulates erythroid differentiation via aberrant alternative splicing of transcription factor TAL1. [PDF]

PLoS ONE, 2017
More than 60% of myeloid dysplasia syndrome (MDS) contains mutations in genes encoding for splicing factors such as SF3B1, U2AF, SRSF2 and ZRSR2. Mutations in SF3B1 are associated with 80% cases of refractory anemia with ring sideroblast (RARS), a ...
Shuiling Jin, Hairui Su, Ngoc-Tung Tran, Jing Song, Sydney S Lu, Ying Li, Suming Huang, Omar Abdel-Wahab, Yanyan Liu, Xinyang Zhao   +9 more
doaj   +1 more source

Activation of targetable inflammatory immune signaling is seen in myelodysplastic syndromes with SF3B1 mutations

bioRxiv, 2022
Background Mutations in the SF3B1 splicing factor are commonly seen in Myelodysplastic syndromes (MDS) and Acute Myeloid Leukemia (AML), yet the specific oncogenic pathways activated by missplicing have not been fully elucidated.
G. Choudhary, A. Pellagatti, B. Agianian, Molly A Smith, T. Bhagat, Shanisha Gordon-Mitchell, Sanjay Pandey, Nishi Shah, Srinivas Aluri, Leya Schwartz, V. Steeples, R. Booher, M. Ramachandra, M. Samson, Milagros Carbajal, K. Pradhan, T. Bowman, Manoj M. Pillai, B. Will, A. Wickrema, A. Shastri, R. Bradley, R. Martell, U. Steidl, E. Gavathiotis, J. Boultwood, D. Starczynowski, Amit Verma   +27 more
semanticscholar   +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

Phase I First-in-Human Dose Escalation Study of the oral SF3B1 modulator H3B-8800 in myeloid neoplasms

Leukemia, 2021
We conducted a phase I clinical trial of H3B-8800, an oral small molecule that binds Splicing Factor 3B1 (SF3B1), in patients with MDS, CMML, or AML.
D. Steensma, M. Wermke, V. Klimek, P. Greenberg, P. Font, R. Komrokji, Jay Yang, A. Brunner, H. Carraway, L. Adès, A. Al-Kali, J. Alonso‐Dominguez, A. Alfonso-Piérola, Catherine C Coombs, H. Deeg, I. Flinn, J. Foran, G. Garcia-Manero, M. Maris, Malgorzata McMasters, J. Micol, J. P. de Oteyza, F. Thol, E. Wang, J. Watts, Justin Taylor, R. Stone, V. Gourineni, A. Marino, Huilan Yao, B. Destenaves, Xiaobin Yuan, Kun Yu, S. Dar, Lernik Ohanjanian, K. Kuida, Jianjun Xiao, C. Scholz, A. Gualberto, U. Platzbecker   +39 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

Co‐occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence

Molecular Oncology, 2022
Uveal melanoma (UM) is the most common intraocular tumor in adults. Recurrent mutations in BRCA1‐associated protein 1 (BAP1) and splicing factor 3B subunit 1 (SF3B1) display a mutually exclusive pattern in UM, but the underlying mechanism is unknown.
Le Yu, Dan Zhou, Guiming Zhang, Zhonglu Ren, Xin Luo, Peng Liu, Steven W. Plouffe, Zhipeng Meng, Toshiro Moroishi, Yilei Li, Yiyue Zhang, Joan Heller Brown, Shuwen Liu, Kun‐Liang Guan   +13 more
doaj   +1 more source

Age, JAK2V617F and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis [PDF]

, 2013
Broséus, J., Alpermann, T., Wulfert, M., Florensa Brichs, L., Jeromin, S., Lippert, E., Rozman, M., Lifermann, F., Grossmann, V., Haferlach, T., Germing, U., Luño, E., Girodon, F., Schnittger ...
Alpermann, T., Brichs, L. F., Broséus, Julien, Grossmann, V., Jeromin, S., Lifermann, F., Lippert, E., Luño Fernández, Elisa, Rozman, M., Wulfert, M.   +9 more
core   +1 more source

Mutational landscape of RNA-binding proteins in human cancers [PDF]

, 2017
RNA Binding Proteins (RBPs) are a class of post-transcriptional regulatory molecules which are increasingly documented to be dysfunctional in cancer genomes. However, our current understanding of these alterations is limited.
Bhat-Nakshatri, Poornima, Gonzalez-Perez, Abel, Janga, Sarath Chandra, Nakshatri, Harikrishna, Neelamraju, Yaseswini   +4 more
core   +2 more sources

Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts

Cancer Research, 2023
Ring sideroblast isolation combined with state-of-the-art multiomics identifies survival mechanisms underlying SF3B1-mutant erythropoiesis and establishes an active role for erythroid differentiation and ring sideroblasts themselves in SF3B1-mutant ...
P. Moura, Teresa Mortera Blanco, I. Hofman, G. Todisco, W. Kretzschmar, A. Björklund, M. Creignou, Michael Hagemann-Jensen, Christoph Ziegenhain, David Cabrerizo Granados, I. Barbosa, G. Walldin, M. Jansson, Neil Ashley, A. Mead, V. Lundin, M. Dimitriou, T. Yoshizato, P. Woll, Seishi Ogawa, R. Sandberg, S. W. Jacobsen, E. Hellström-Lindberg   +22 more
semanticscholar   +1 more source