Results 21 to 30 of about 12,272 (217)

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   +2 more sources

Variant-specific SF3B1 mutations drive distinct splicing and mitochondrial dysfunction in myelodysplastic neoplasms [PDF]

Human Genomics
Background SF3B1 spliceosome mutations are among the most common genetic lesions in myelodysplastic neoplasms (MDS). The canonical hotspot K700E variant is generally associated with a favorable prognosis, whereas the impact of other recurrent variants is
Andrea Hruštincová, Iva Trsová, David Kundrát, Monika Beličková, Monika Kaisrlíková, Jitka Veselá, Zdeněk Krejčík, Alžběta Hlaváčková, Jiří Suttnar, Hana Štufková, Nikol Volfová, Hana Hansíková, Tatiana Aghová, Zuzana Zemanová, Anna Jonášová, Jaroslav Čermák, Markéta Šťastná Marková, Michaela Dostálová Merkerová   +17 more
doaj   +2 more sources

Modulation of splicing factors SF3B1 and SRSF1 by polypurine reverse Hoogsteen hairpins affects the splicing pattern of estrogen receptor α in breast cancer cells [PDF]

Cancer Cell International
Multiple mRNA splice variants for the human estrogen receptor α (ERα) with one or more skipped exons have been identified, and some encode isoforms with modified functions compared with the wild-type 66 kDa protein.
Ester López-Aguilar, Judith Cullell, Ana Delgado, Laia Monserrat, Violeta Serra, Carlos J. Ciudad, Véronique Noé   +6 more
doaj   +2 more sources

SF3B1 thermostability as an assay for splicing inhibitor interactions [PDF]

Journal of Biological Chemistry
The spliceosome protein, SF3B1, is associated with U2 snRNP during early spliceosome assembly for pre-mRNA splicing. Frequent somatic mutations in SF3B1 observed in cancer necessitates the characterization of its role in identifying the branchpoint adenosine of introns.
Angela N. Amorello, Guddeti Chandrashekar Reddy, Bruno Melillo, Benjamin F. Cravatt, Arun K. Ghosh, Melissa S. Jurica   +5 more
openaire   +5 more sources

Phosphorylation of SF3B1 by CDK11 orchestrates spliceosome activation via SNIP1-dependent RES complex recruitment [PDF]

Nature Communications
Splicing Factor 3b Subunit 1 (SF3B1), a core component of the spliceosome, undergoes dynamic phosphorylation and dephosphorylation during the splicing cycle to regulate pre-mRNA splicing. Twenty-eight threonine/proline repeats are phosphorylated by CDK11
Pavla Gajdušková, Igor Ruiz de Los Mozos, Milan Hluchý, Antonina Myšková, Kateřina Zábrady, Peter Maník, Neda Dragišić, Kateřina Hanáková, David Potěšil, Sara Bologna, Jiří Nováček, Caroline C. Friedel, Konstantinos Tripsianes, Zbyněk Zdráhal, Dalibor Blazek   +14 more
doaj   +2 more sources

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms

Biology, 2022
It has been reported that gene mutations in SF3B1 and PHF6 are mutually exclusive. However, this observation has never been rigorously assessed. We report the clinicopathologic and molecular genetic features of 21 cases of myeloid neoplasms with double mutations in SF3B1 and PHF6, including 9 (43%) with myelodysplastic syndrome, 5 (24%) with acute ...
Zhuang Zuo, L. Jeffrey Medeiros, Sofia Garces, Mark J. Routbort, Chi Young Ok, Sanam Loghavi, Rashmi Kanagal-Shamanna, Fatima Zahra Jelloul, Guillermo Garcia-Manero, Kelly S. Chien, Keyur P. Patel, Rajyalakshmi Luthra, C. Cameron Yin   +12 more
openaire   +4 more sources

The Impact of SF3B1 Mutations on the Tumor Microenvironment and Response to Immunotherapy

Cancer Medicine
Cancer genomes shape the immune landscape within the tumor microenvironment (TME), thereby influencing host antitumor immunity. Identifying somatic mutations that modulate the TME is critical for selecting patients most likely to benefit from ...
Kyung‐Jin Cho, Byungho Lim
doaj   +2 more sources

Phase Separation of SF3B1 Serves as a Critical Post-Transcriptional Regulator During Early Mouse Embryogenesis. [PDF]

Adv Sci (Weinh)
Phase separation of SF3B1 acts as a key regulatory mechanism for dynamic alternative splicing throughout early mouse embryogenesis. Its absence triggers extensive splicing errors, which induce persistent DNA damage, defective cell cycle progression, and failed cell lineage commitment, and ultimately hinder the normal growth and development of ...
Zhao K, Han TY, Cheng YL, Zhang YD, Zhang YW, Guo J, Zhang S, Huang W, Zhang J, Liao PY, Xin Y, Chu C, Sun QY, Liu Z, Ou XH, Xie J.   +15 more
europepmc   +2 more sources

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders [PDF]

Nature Communications
SF3B1 is an essential and ubiquitous splicing factor that plays a pivotal role in the early steps of pre-mRNA splicing. Recurrent somatic missense mutations in SF3B1 are frequent in cancers, but no constitutional variant has been reported so far.
Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, Solène Chapalain, Camille Desdouets, Séverine Commet, Changlian Zhu, Yiran Xu, Yangong Wang, Tony Roscioli, Frederic Tran-Mau-Them, Laurence Faivre, Julien Maraval, Julian Delanne, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Céline Jost, Marc Planes, Susan Hiatt, Patricia Wheeler, Claudia Gonzaga-Jauregui, Heng Wang, Baozhong Xin, Valerie Sency, Michael C. Kruer, Somayeh Bakhtiari, Patrick Sulem, Cynthia Curry, Trine Prescott, Gertrud Strobl-Wildemann, Theresa Brunet, Martine Doco Fenzy, Thomas Courtin, Céline Poirsier, Trine Bjørg Hammer, Christina D. Fenger, Melissa MacPherson, Kosuke Izumi, Jacqueline Leonard, Dong Li, Elaine H. Zackai, Ian A. Glass, Scott Ward, Philippe M. Campeau, Maria Carla Hermida Borroto, Laurence Le Moigno, Hilde Van Esch, Liesbeth De Waele, Daniel G. Calame, James R. Lupski, Giulia Barcia, Cristina Peduto, Pauline Planté-Bordeneuve, Lucie Dupuis, Roberto Mendoza-Londono, Dimitri J. Stavropoulos, Jennifer Gillibert-Duplantier, Thomas Besnard, Laura Do Souto Ferreira, Benjamin Cogné, Stéphane Bézieau, Arnaud Droit, Laurent Corcos, Eric Lippert, Claude Férec, Sebastien Küry, Delphine G. Bernard   +66 more
doaj   +2 more sources

Distinct routes of clonal progression in SF3B1-mutant myelodysplastic syndromes

Blood Advances
: Myelodysplastic syndromes (MDS) are clonal stem cell disorders driven by heterogeneous genetic alterations leading to variable clinical course. MDS with splicing factor SF3B1 mutations is a distinct subtype with a favorable outcome.
Martina Sarchi, Courtnee A. Clough, Anna Gallì, Cristina Picone, Beatrice Ferrari, Edie I. Crosse, Laura D. Baquero Galvis, Claudia Fiducioso, Nelli Aydinyan, J. Philip Creamer, Sara Pozzi, Elisabetta Molteni, Chiara Elena, Robert K. Bradley, Luca Malcovati, Sergei Doulatov   +15 more
doaj   +2 more sources