Results 21 to 30 of about 16,846 (200)

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

Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients [PDF]

International Journal of Molecular Sciences, 2021
Mutations in splicing factor genes have a severe impact on the survival of cancer patients. Splicing factor 3b subunit 1 (SF3B1) is one of the most frequently mutated genes in chronic lymphocytic leukemia (CLL); patients carrying these mutations have a poor prognosis.
Alicja Pacholewska, Christina Grimm, Carmen D. Herling, Matthias Lienhard, Anja Königs, Bernd Timmermann, Janine Altmüller, Oliver Mücke, Hans Christian Reinhardt, Christoph Plass, Ralf Herwig, Michael Hallek, Michal R. Schweiger   +12 more
openaire   +5 more sources

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. [PDF]

, 2015
Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise ...
Ganser, Arnold, Grossmann, Vera, Haferlach, Torsten, Kanojia, Deepika, Koeffler, H Phillip, Kohlmann, Alexander, Li, Jia, Madan, Vikas, Miyano, Satoru, Ogawa, Seishi, Okamoto, Ryoko, Sanada, Masashi, Sato-Otsubo, Aiko, Shiraishi, Yuichi, Sundaresan, Janani, Thol, Felicitas, Yang, Henry   +16 more
core   +5 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

Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia. [PDF]

, 2017
Acquired elliptocytosis is a known but rarely described abnormality in the myelodysplastic syndromes (MDS). Here we report the case of an elderly male who was admitted to the hospital with chest pain, dyspnea, and fatigue and was found to be anemic with ...
Dwyre, Denis M, Jonas, Brian A, Kjelland, Jacob D   +2 more
core   +2 more sources

SF3B1 deficiency impairs human erythropoiesis via activation of p53 pathway: implications for understanding of ineffective erythropoiesis in MDS

Journal of Hematology & Oncology, 2018
Background SF3B1 is a core component of splicing machinery. Mutations in SF3B1 are frequently found in myelodysplastic syndromes (MDS), particularly in patients with refractory anemia with ringed sideroblasts (RARS), characterized by isolated anemia ...
Yumin Huang, John Hale, Yaomei Wang, Wei Li, Shijie Zhang, Jieying Zhang, Huizhi Zhao, Xinhua Guo, Jing Liu, Hongxia Yan, Karina Yazdanbakhsh, Gang Huang, Christopher D. Hillyer, Narla Mohandas, Lixiang Chen, Ling Sun, Xiuli An   +16 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

Prognostic correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities in chronic lymphocytic leukemia patients

Cancer Reports, 2023
Background and Aim Chronic lymphocytic leukemia (CLL) is a monoclonal malignancy of B lymphocytes. Since common mutations in NOTCH1 and SF3B1, along with other possible chromosomal alterations, change disease severity and survival of patients with CLL ...
Reza Sadria, Nasrin Motamed, Mohammad Saberi Anvar, Hassan Mehrabani Yeganeh, Behzad Poopak   +4 more
doaj   +1 more source

The SF3B1 R625H mutation promotes prolactinoma tumor progression through aberrant splicing of DLG1

Journal of Experimental & Clinical Cancer Research, 2022
Background Recently, a hotspot mutation in prolactinoma was observed in splicing factor 3b subunit 1 (SF3B1 R625H ), but its functional effects and underlying molecular mechanisms remain largely unexplored.
Jing Guo, Chuzhong Li, Qiuyue Fang, Yulou Liu, Dawei Wang, Yiyuan Chen, Weiyan Xie, Yazhuo Zhang   +7 more
doaj   +1 more source