Results 31 to 40 of about 21,005 (271)

Mutant SF3B1 promotes malignancy in PDAC

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   +5 more sources

deboever-sf3b1-2014

, 2014
Christopher DeBoever
  +10 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

MDS/MPN With SF3B1 Mutation and Thrombocytosis but Without Ring Sideroblasts. [PDF]

Am J Hematol
American Journal of Hematology, Volume 101, Issue 1, Page 129-130, January 2026.
Hazarika B, Bain BJ.
europepmc   +2 more sources

Localized inhibition of protein phosphatase 1 by NUAK1 promotes spliceosome activity and reveals a MYC-sensitive feedback control of transcription. [PDF]

, 2020
Deregulated expression of MYC induces a dependence on the NUAK1 kinase, but the molecular mechanisms underlying this dependence have not been fully clarified.
Ade, C.P., Baluapuri, A., Chang, Y.C., Cossa, G., Eilers, M., Girard, C., Kempa, S., Kumar, A., Kuster, B., Lührmann, R., Mastrobuoni, G., Mumberg, D., Prinz, F., Roeschert, I., Schülein-Völk, C., Silveira Vidal, R., Walz, S., Wolf, E., Wortmann, L.   +18 more
core   +1 more source

Biology of advanced uveal melanoma and next steps for clinical therapeutics [PDF]

, 2014
Uveal melanoma is the most common intraocular malignancy although it is a rare subset of all melanomas. Uveal melanoma has distinct biology relative to cutaneous melanoma, with widely divergent patient outcomes.
Bastian, BC, Bowcock, AM, Carvajal, RD, Flaherty, KT, Gershenwald, JE, Gutkind, JS, Luke, JJ, McKenna, KC, Patel, PM, Sato, T, Selig, S, Sossman, JA, Streicher, HZ, Sznol, M, Thurin, M, Triozzi, PL, Van Meir, EG, Welch, J   +17 more
core   +4 more sources

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

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
openaire   +2 more sources

The biological function and clinical significance of SF3B1 mutations in cancer

Biomarker Research, 2020
Spliceosome mutations have become the most interesting mutations detected in human cancer in recent years. The spliceosome, a large, dynamic multimegadalton small nuclear ribonucleoprotein composed of small nuclear RNAs associated with proteins, is ...
Zhixia Zhou, Qi Gong, Yin Wang, Mengkun Li, Lu Wang, Hongfei Ding, Peifeng Li   +6 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