Results 41 to 50 of about 19,190 (266)

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

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

SF3B1 mutations in chronic lymphocytic leukemia [PDF]

Blood, 2013
Abstract SF3B1 is a critical component of the splicing machinery, which catalyzes the removal of introns from precursor messenger RNA (mRNA). Next-generation sequencing studies have identified mutations in SF3B1 in chronic lymphocytic leukemia (CLL) at high frequency.
Youzhong Wan, Catherine J. Wu, Catherine J. Wu   +2 more
openaire   +3 more sources

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

Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations. [PDF]

Genome Res
Background Mutations in splicing factor 3B subunit 1 (SF3B1) frequently occur in patients with chronic lymphocytic leukemia (CLL) and myelodysplastic syndromes (MDS). These mutations have a different effect on the disease prognosis with beneficial effect
Pacholewska A, Lienhard M, Brüggemann M, Hänel H, Bilalli L, Königs A, Heß F, Becker K, Köhrer K, Kaiser J, Gohlke H, Gattermann N, Hallek M, Herling CD, König J, Grimm C, Herwig R, Zarnack K, Schweiger MR.   +18 more
europepmc   +2 more sources

SF3B1: from core splicing factor to oncogenic driver. [PDF]

RNA
Highly recurrent somatic mutations in the gene encoding the core splicing factor SF3B1 are drivers of multiple cancer types. SF3B1 is a scaffold protein that orchestrates multivalent protein–protein interactions within the spliceosome that are essential for recognizing the branchsite (BS) and selecting the 3′ splice site during the earliest stage of ...
Bak-Gordon P, Manley JL.
europepmc   +3 more sources

A Rare Case of Plasma Cell Myeloma, Myelodysplastic Neoplasm with Low Blast and SF3B1 Mutation and Dyserythropoiesis with Ring Sideroblasts [PDF]

Journal of Liaquat National Hospital
Myelodysplastic syndromes (MDS) are heterogeneous hematological neoplasms which lead to dysplasia, cytopenia and hematopoiesis. They have a risk of transforming into Acute Myeloid Leukemia (AML) in some cases.
Shamail Zia, Brenda Ly, Alma Sanchez Salazar, Bridget Herschap, Aamir Ehsan   +4 more
doaj   +1 more source

SF3B1 mutation in pancreatic cancer contributes to aerobic glycolysis and tumor growth through a PP2A–c‐Myc axis

Molecular Oncology, 2021
Hot spot gene mutations in splicing factor 3b subunit 1 (SF3B1) are observed in many types of cancer and create abundant aberrant mRNA splicing, which is profoundly implicated in tumorigenesis.
Jian‐Yu Yang, Yan‐Miao Huo, Min‐Wei Yang, Yang Shen, De‐Jun Liu, Xue‐Liang Fu, Ling‐Ye Tao, Rui‐Zhe He, Jun‐Feng Zhang, Rong Hua, Shu‐Heng Jiang, Yong‐Wei Sun, Wei Liu   +12 more
doaj   +1 more source

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

Vitamin B5 and succinyl-CoA improve ineffective erythropoiesis in SF3B1 mutated myelodysplasia

Science Translational Medicine, 2023
Patients with myelodysplastic syndrome and ring sideroblasts (MDS-RS) present with symptomatic anemia due to ineffective erythropoiesis that impedes their quality of life and increases morbidity.
S. Mian, C. Philippe, E. Maniati, P. Protopapa, T. Bergot, M. Piganeau, T. Nemkov, D. Di Bella, V. Morales, A. Finch, Angelo D’Alessandro, K. Bianchi, Jun Wang, P. Gallipoli, S. Kordasti, A. Kubasch, Michael Cross, U. Platzbecker, D. Wiseman, D. Bonnet, Delphine G. Bernard, J. Gribben, K. Rouault-Pierre   +22 more
semanticscholar   +1 more source