Results 1 to 10 of about 12,272 (217)

Mutant SF3B1 promotes malignancy in PDAC [PDF]

eLife, 2023
The splicing factor SF3B1 is recurrently mutated in various tumors, including pancreatic ductal adenocarcinoma (PDAC). The impact of the hotspot mutation SF3B1 K700E on the PDAC pathogenesis, however, remains elusive. Here, we demonstrate that Sf3b1 K700E
Simmler, Patrik, Ioannidi, Eleonora I, Mengis, Tamara, Marquart, Kim Fabiano, Asawa, Simran, Van-Lehmann, Kjong, Kahles, Andre, Thomas, Tinu, Schwerdel, Cornelia, Aceto, Nicola, Rätsch, Gunnar, Stoffel, Markus, Schwank, Gerald   +12 more
openaire   +6 more sources

Silencing SF3B1 promotes apoptosis and inhibits proliferation and invasion of human lung cancer cell line A549 [PDF]

Jichu yixue yu linchuang, 2023
Objective To explore the effect of splicing factor 3B subunit (SF3B1) on apoptosis, proliferation and invasion of human lung cancer cells. Methods Non-small cell lung cancer(NSCLC) patients in the General Hospital of Western Theater Command PLA from ...
ZHANG Xiaowan, KANG Xia, YAO Xiaoying, XIE Fang, LI Ying
doaj   +2 more sources

SF3B1 mutant myelodysplastic syndrome: Recent advances [PDF]

Advances in Biological Regulation, 2021
The myelodysplastic syndromes (MDS) are common myeloid malignancies. Mutations in genes encoding different components of the spliceosome occur in more than half of all MDS patients. SF3B1 is the most frequently mutated splicing factor gene in MDS, and there is a strong association between SF3B1 mutations and the presence of ring sideroblasts in the ...
Pellagatti, A, Boultwood, J
openaire   +5 more sources

Cancer-associated SF3B1 mutation suppresses DNA repair by disrupting the organization of nuclear actin network [PDF]

Cell Death and Disease
Nuclear actin filament is required for efficient repair of DNA double-strand breaks. While cancer-associated SF3B1 mutation leads to impaired DNA repair, the underlying mechanism remains elusive.
Rui Qian, Zhipeng Zhao, Xuanxuan Sun, Benkai Xin, Peipei An, Ting Yang, Ning Wu, Xin Hu, Youzhong Wan   +8 more
doaj   +2 more sources

Pre-mRNA splicing-associated diseases and therapies

RNA Biology, 2023
Precursor mRNA (pre-mRNA) splicing is an essential step in human gene expression and is carried out by a large macromolecular machine called the spliceosome.
Sierra L. Love, Joseph D. Emerson, Kazunori Koide, Aaron A. Hoskins   +3 more
doaj   +1 more source

SF3B1 mutation–mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia

Life Science Alliance, 2023
Understanding the pathogenic mechanisms of SF3B1 mutation can help unravel their contribution in patients’ worse prognosis. The cytotoxic effects and delayed leukemic infiltration induced by H3B-8800 support the potential use of SF3B1 inhibitors as a ...
Irene López-Oreja, André Gohr, Heribert Playa-Albinyana, Ariadna Giró, Fabian Arenas, Morihiro Higashi, Rupal Tripathi, Mònica López-Guerra, Manuel Irimia, Marta Aymerich, Juan Valcárcel, Sophie Bonnal, Dolors Colomer   +12 more
doaj   +1 more source

Somatic SF3B1 hotspot mutation in prolactinomas [PDF]

Nature Communications, 2020
AbstractThe genetic basis and corresponding clinical relevance of prolactinomas remain poorly understood. Here, we perform whole genome sequencing (WGS) on 21 patients with prolactinomas to detect somatic mutations and then validate the mutations with digital polymerase chain reaction (PCR) analysis of tissue samples from 227 prolactinomas. We identify
Chuzhong Li, Weiyan Xie, Jared S. Rosenblum, Jianyu Zhou, Jing Guo, Yazhou Miao, Yutao Shen, Hongyun Wang, Lei Gong, Mingxuan Li, Sida Zhao, Sen Cheng, Haibo Zhu, Tao Jiang, Shiying Ling, Fei Wang, Hongwei Zhang, Mingshan Zhang, Yanming Qu, Qi Zhang, Guilin Li, Junmei Wang, Jun Ma, Zhengping Zhuang, Yazhuo Zhang   +24 more
openaire   +5 more sources

Functional and conformational impact of cancer-associated SF3B1 mutations depends on the position and the charge of amino acid substitution

Computational and Structural Biotechnology Journal, 2021
The hotspot mutations of SF3B1, the most frequently mutated splicing gene in cancers, contribute to oncogenesis by corrupting the mRNA splicing. Further SF3B1 mutations have been reported in cancers but their consequences remain unclear.
Christine Canbezdi, Malcy Tarin, Alexandre Houy, Dorine Bellanger, Tatiana Popova, Marc-Henri Stern, Sergio Roman-Roman, Samar Alsafadi   +7 more
doaj   +1 more source

The Effect of SF3B1 Mutation on the DNA Damage Response and Nonsense-Mediated mRNA Decay in Cancer

Frontiers in Oncology, 2021
Recurrent mutations in splicing factor 3B subunit 1 (SF3B1) have been identified in several malignancies and are associated with an increased expression of 3’ cryptic transcripts as a result of alternative branchpoint recognition.
Alexander C. Leeksma, Alexander C. Leeksma, Alexander C. Leeksma, Ingrid A. M. Derks, Ingrid A. M. Derks, M. Haidar Kasem, Emine Kilic, Annelies de Klein, Martine J. Jager, Arjan A. van de Loosdrecht, Joop H. Jansen, Veronika Navrkalova, Laura M. Faber, Nadja Zaborsky, Nadja Zaborsky, Nadja Zaborsky, Alexander Egle, Alexander Egle, Alexander Egle, Thorsten Zenz, Sarka Pospisilova, Omar Abdel-Wahab, Arnon P. Kater, Arnon P. Kater, Eric Eldering, Eric Eldering   +25 more
doaj   +1 more source

Cancer-associated mutations in SF3B1 disrupt the interaction between SF3B1 and DDX42

The Journal of Biochemistry, 2022
Abstract While cancer-associated SF3B1 mutations causes alternative RNA splicing, the molecular mechanism underlying the alternative RNA splicing is not fully elucidated. Here, we analysed the proteins that interacted with the wild-type and K700E-mutated SF3B1 and found that the interactions of two RNA helicases, DDX42 and DDX46, with ...
Bo, Zhao, Zhuang, Li, Rui, Qian, Gang, Liu, Mingyue, Fan, Zehua, Liang, Xin, Hu, Youzhong, Wan   +7 more
openaire   +2 more sources