Results 251 to 260 of about 19,190 (266)

The role of SF3B1 and NOTCH1 in the pathogenesis of leukemia

IUBMB Life, 2022
AbstractThe discovery of new genes/pathways improves our knowledge of cancer pathogenesis and presents novel potential therapeutic options. For instance, splicing factor 3b subunit 1 (SF3B1) and NOTCH1 genetic alterations have been identified at a high frequency in hematological malignancies, such as leukemia, and may be related to the prognosis of ...
Shiva Abolhasani, Seyyed Sina Hejazian, Vahid Karpisheh, Atefeh Khodakarami, Hamed Mohammadi, Jamshid Gholizadeh Navashenaq, Mohammad Hojjat‐Farsangi, Farhad Jadidi‐Niaragh   +7 more
openaire   +2 more sources

Long-read sequencing reveals alternative splicing-driven, shared immunogenic neoepitopes regardless SF3B1 status in uveal melanoma.

Cancer immunology research, 2023
Tumor-specific neoepitopes are promising targets in cancer immunotherapy. However, identification of functional tumor-specific neoepitopes remains challenging. In addition to the most common source, single-nucleotide variants (SNVs), alternative splicing
Tengteng Yao, Zhe Zhang, Qian Li, Rui Huang, Yanhong Hong, Chen Li, Feng Zhang, Yingying Huang, Yan Fang, Qin Cao, Xiaoliang Jin, Chunliang Li, Zefeng Wang, X. Lin, Lingjie Li, Wu Wei, Zhaoyang Wang, Jianfeng Shen   +17 more
semanticscholar   +1 more source

Chronic Lymphocytic Leukemia withSF3B1Mutation

New England Journal of Medicine, 2012
The authors found that chronic lymphocytic leukemia in patients with mutations in the SF3B1 RNA splicing gene has a more aggressive natural history than that in patients without such mutations.
Víctor Quesada, Carlos López-Otín, Andrew J. Ramsay   +2 more
openaire   +3 more sources

Abstract 4615: Influence of SF3B1 gene mutation is different from that of Sf3B1 inhibitor in colorectal cancer

Cancer Research, 2014
Abstract Purpose: We have reported that SF3B1 gene mutations are rare in colorectal cancer patients and SF3B1 gene mutations in codon 1074 are responsible for resistance to SF3B1 inhibitor (FR901464, FR) at the AACR annual meeting 2013. SF3B1 gene mutations in hematological malignancies are considered to be related to tumor progression ...
Shuji Kubo, Aya Yano, Naohiro Tomita, Nagahide Matsubara, Tomoki Yamano   +4 more
openaire   +2 more sources

Distinct SF3B1 Allele HEAT Repeat Location Is Associated with Co-Occurring Mutation Patterns in MDS

Blood, 2023
Background: In 2022, the WHO classified a new subtype of myelodysplastic neoplasms (MDS) with low blast count and SF3B1 mutation called MDS- SF3B1. SF3B1 is the major subunit of the SF3B spliceosome complex and is responsible for recognizing 3' splice ...
David B. Dukenik, Deborah Soong, Frank Scarpa, Julia Anderson, Hua Li, Viji Udayakuma, J. Watts, Y. Madanat, M. Sekeres, Namrata S. Chandhok, Justin Taylor   +10 more
semanticscholar   +1 more source

The impact of SF3B1 mutations in CLL on the DNA-damage response

Leukemia, 2014
Mutations or deletions in TP53 or ATM are well-known determinants of poor prognosis in chronic lymphocytic leukemia (CLL), but only account for approximately 40% of chemo-resistant patients. Genome-wide sequencing has uncovered novel mutations in the splicing factor sf3b1, that were in part associated with ATM aberrations, suggesting functional synergy.
M. H. J. Van Oers, Martin Trbušek, E. Eldering, Thorsten Zenz, Thorsten Zenz, Tatjana Stankovic, Hanneke N. Monsuur, Perry D. Moerland, Šárka Pospíšilová, Ceri E. Oldreive, M. Lodén, Veronika Navrkalová, Alexander Jethwa, Anna Skowronska, Arnon P. Kater, Christian H. Geisler, Jitka Malčíková, Jennifer Hüllein, Ingrid A. M. Derks, G.D. te Raa, J van Laar   +20 more
openaire   +4 more sources

Abstract 4350: Low frequencies of SF3B1 mutations indicate SF3B1 inhibitor as a novel moleculartargeted drug for colorectal cancer.

Cancer Research, 2013
Abstract Purpose: FR901464 (FR) is an antitumor agent that specifically binds to and inhibits the function of splicing factor 3B subunit 1 (SF3B1). Higher frequencies of SF3B1 gene mutations and their relevance to cancer progression have been shown in studies of hematological malignancies.
Kiyoshi Tsukamoto, Mie Hamanaka, Masayoshi Kobayashi, Naohiro Tomita, Takashi Kuno, Nagahide Matsubara, Shuji Kubo, Satoshi Tsuda, Daisuke Yamagishi, Astuko Tamamoto, Dave S.B. Hoon, Hidenori Nakajima, Masafumi Noda, Tomoki Yamano   +13 more
openaire   +2 more sources

MDS-Associated SF3B1 Mutations Promote Aberrant Hematopoietic Cell Fate Choice By Disrupting Mediator Kinase Module Component CDK8

Blood
Somatic SF3B1 mutations are believed to arise early in the pathogenesis of clonal myeloid disorders such as myelodysplastic syndromes (MDS). Studies show that SF3B1 mutations bias hematopoietic stem and progenitor cells (HSPCs) toward the myeloid ...
Elizabeth A Bonner, Axia Song, Erica Arriaga-Gomez, Katherine Gadek, Laura Baquero Galvis, Jonathan Linton, Rasika A Venkataraman, Sayantani Sinha, Anthony Rongvaux, Myron Evans, Sergei Doulatov, Stanley C. Lee   +11 more
semanticscholar   +1 more source

Cancer-associated SF3B1 mutations inhibit mRNA nuclear export by disrupting SF3B1–THOC5 interactions

The Journal of Biochemistry
Abstract Mutations in SF3B1 are common in many types of cancer, promoting cancer progression through aberrant RNA splicing. Recently, mRNA nuclear export has been reported to be defective in cells with the SF3B1 K700E mutation. However, the mechanism remains unclear.
Gang Liu, Bo Zhao, Yueru Shi, Youzhong Wan   +3 more
openaire   +2 more sources

Myelodysplastic Syndromes with Concomitant SF3B1 Mutation and Deletion of the Long Arm of Chromosome 5 (SF3B1del5q): Outcomes and Response to Treatment

Blood
Background Both MDS-SF3B1 and isolated del(5q) MDS are recognized by WHO and ICC 2022 as unique molecularly-defined MDS entities. Reports including the molecular revised international prognostic scoring system (IPSS-M) indicate that concomitant ...
R. Komrokji, Zaker I. Schwabkey, N. Al Ali, Luis Aguirre, Maximilian F. Stahl, S. Ball, Emily Mason, M. Savona, V. Santini, A. Consagra, U. Platzbecker, A. Kubasch, Y. Madanat, Pierre Fenaux, Lin-Pierre Zhao, M. Sekeres, Namrata S. Chandhok, M. D. Della Porta, Luca Lanino, A. DeZern, D. Sallman, Z. Xie, E. Padron, K. Sasaki, Kensuke Takaoka, Akhil Jain, M. Del Rey, M. Díez-Campelo, G. Garcia-Manero   +28 more
semanticscholar   +1 more source