Results 51 to 60 of about 21,005 (271)

Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types [PDF]

, 2018
Hotspot mutations in splicing factor genes have been recently reported at high frequency in hematological malignancies, suggesting the importance of RNA splicing in cancer.
Alvaro, Domenico, Anant A, Agrawal, Bragazzi, MARIA CONSIGLIA, Cardinale, Vincenzo, Gaudio, Eugenio, James, Palacino, Lihua, Yu, Michael, Seiler, Peter G, Smith, Ping, Zhu, Shouyong, Peng, Silvia, Buonamici, Teng, Teng   +12 more
core   +1 more source

The protein kinase DYRK1A phosphorylates the splicing factor SF3b1/SAP155 at Thr434, a novel in vivo phosphorylation site. [PDF]

, 2006
BACKGROUND: The U2 small nuclear ribonucleoprotein particle (snRNP) component SF3b1/SAP155 is the only spliceosomal protein known to be phosphorylated concomitant with splicing catalysis.
Becker, Walter, Czajkowska, Hanna, de Graaf, Katrin, Lilischkis, Richard, Lüscher, Bernhard, Packman, Len C, Rottmann, Sabine   +6 more
core   +2 more sources

Prognostic correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities in chronic lymphocytic leukemia patients

Cancer Reports, 2023
Background and Aim Chronic lymphocytic leukemia (CLL) is a monoclonal malignancy of B lymphocytes. Since common mutations in NOTCH1 and SF3B1, along with other possible chromosomal alterations, change disease severity and survival of patients with CLL ...
Reza Sadria, Nasrin Motamed, Mohammad Saberi Anvar, Hassan Mehrabani Yeganeh, Behzad Poopak   +4 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

The splicing factor Sf3b1 regulates erythroid maturation and proliferation via TGFβ signaling in zebrafish

Blood Advances, 2019
: The spliceosomal component Splicing Factor 3B, subunit 1 (SF3B1) is one of the most prevalently mutated factors in the bone marrow failure disorder myelodysplastic syndrome.
Adriana De La Garza, Rosannah C. Cameron, Varun Gupta, Ellen Fraint, Sara Nik, Teresa V. Bowman   +5 more
doaj   +1 more source

SF3B1 is a stress-sensitive splicing factor that regulates both HSF1 concentration and activity. [PDF]

PLoS ONE, 2017
The heat shock response (HSR) is a well-conserved, cytoprotective stress response that activates the HSF1 transcription factor. During severe stress, cells inhibit mRNA splicing which also serves a cytoprotective function via inhibition of gene ...
Karen S Kim Guisbert, Eric Guisbert
doaj   +1 more source

Lack of SF3B1 R625 mutations in cutaneous melanoma [PDF]

Diagnostic Pathology, 2013
Abstract Background Melanoma is a deadly disease affecting people worldwide. Genetic studies have identified different melanoma subtypes characterized by specific recurrently mutated genes and led to the successful clinical introduction of targeted therapies.
Schilling, Bastian, Bielefeld, Nicola, Sucker, Antje, Hillen, Uwe, Zimmer, Lisa, Schadendorf, Dirk, Zeschnigk, Michael, Griewank, Klaus   +7 more
openaire   +2 more sources

SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response

Nature Genetics, 2023
SF3B1 hotspot mutations are associated with a poor prognosis in several tumor types and lead to global disruption of canonical splicing. Through synthetic lethal drug screens, we identify that SF3B1 mutant ( SF3B1 ^MUT) cells are selectively sensitive to
Philip Bland, Harry Saville, Patty T. Wai, Lucinda Curnow, Gareth Muirhead, J. Nieminuszczy, N. Ravindran, M. John, S. Hedayat, H. Barker, James Wright, Lu Yu, I. Mavrommati, A. Read, B. Peck, Mark Allen, P. Gazinska, H. Pemberton, Aditi Gulati, S. Nash, Farzana Noor, N. Guppy, I. Roxanis, G. Pratt, C. Oldreive, T. Stankovic, Samantha Barlow, H. Kalirai, Sarah E Coupland, R. Broderick, S. Alsafadi, Alexandre Houy, Marc-Henri Stern, S. Pettit, J. Choudhary, S. Haider, W. Niedzwiedz, C. Lord, R. Natrajan   +38 more
semanticscholar   +1 more source

The genomic landscape of chronic lymphocytic leukemia: clinical implications [PDF]

, 2013
A precise understanding of the genomic and epigenomic features of chronic lymphocytic leukemia (CLL) may benefit the study of the disease’s staging and treatment.
Campo, Elías, López Otín, Carlos, Quesada Fernández, Víctor, Ramsay, Andrew John, Rodríguez Martínez, David, Suárez Puente, Xosé Antón   +5 more
core   +2 more sources

Low rate of calreticulin mutations in refractory anaemia with ring sideroblasts and marked thrombocytosis [PDF]

, 2014
Broséus, J., Lippert, E., Harutyunyan, A.S., Jeromin, S., Zipperer, E., Florensa, L., Milosevic, J.D., Haferlach, T., Germing, U., Luño, E., Schnittger, S., Kralovics, R., Girodon ...
Broséus, Julien, Harutyunyan, S., Jeromin, S., Lippert, A. S., Luño Fernández, Elisa   +4 more
core   +1 more source