Results 51 to 60 of about 19,190 (266)

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts [PDF]

New England Journal of Medicine, 2011
Myelodysplastic syndromes are a diverse and common group of chronic hematologic cancers. The identification of new genetic lesions could facilitate new diagnostic and therapeutic strategies.We used massively parallel sequencing technology to identify somatically acquired point mutations across all protein-coding exons in the genome in 9 patients with ...
Elli Papaemmanuil, Helen Davies, Michael R. Stratton, Paresh Vyas, Phil Stephens, Keiran Raine, M.G. Della Porta, Alan J. Warren, KC Anderson, Sudhir Tauro, Nicholas C.P. Cross, Luca Malcovati, Anna Gallì, Mario Cazzola, Erica Travaglino, Nikhil C. Munshi, Nikhil C. Munshi, Jacqueline Boultwood, Jonathon Hinton, David T. Jones, Adam Butler, P A Futreal, Ville Mustonen, Anthony R. Green, C. McGee, Ignacio Varela, Patrick S. Tarpey, Jon W. Teague, E J Baxter, Anna L. Godfrey, Charles E. Massie, Michael J. Groves, Adel K. El-Naggar, Peter R. Ellis, Richard Rance, Andrea Pellagatti, Eva Hellström-Lindberg, I. Rapado, Stuart McLaren, Laura Mudie, Carlo Gambacorti-Passerini, Peter J. Campbell, Peter J. Campbell, Andrej Fischer, Andrej Fischer, J. S. Wainscoat, Adam Shlien, Serena Nik-Zainal, Joannah Score, Ana Cvejic, Ana Cvejic, David T. Bowen   +51 more
openaire   +6 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

SF3B1 mutations in myelodysplastic syndromes: A potential therapeutic target for modulating the entire disease process

Frontiers in Oncology, 2023
Myelodysplastic syndromes (MDS) are clonal hematologic malignancies characterized by ineffective hematopoiesis and dysplasia of the myeloid cell lineage and are characterized by peripheral blood cytopenia and an increased risk of transformation to acute ...
M. Jiang, Meng Chen, Qian Liu, Zhili Jin, Xiangdong Yang, Weifeng Zhang   +5 more
semanticscholar   +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

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

Biallelic BIRC3 inactivation in chronic lymphocytic leukaemia patients with 11q deletion identifies a subgroup with very aggressive disease. [PDF]

, 2018
Not ...
Bomben, R, Bonina, S, Cafforio, L, Cappelli, Lv, Cuneo, A, Dal Bo, M, Del Giudice, I, Del Poeta, G, Diop, F, Favini, C, Foá, R., Gaidano, G, Gattei, V, Guarini, A, Ilari, C, Mariglia, P, Marinelli, M, Mauro, Fr, Messina, M, Peragine, N, Piciocchi, A, Raponi, S, Rigolin, Gm, Rossi, D, Rossi, F   +24 more
core   +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

Mis-splicing of Mitotic Regulators Sensitizes SF3B1-Mutated Human HSCs to CHK1 Inhibition. [PDF]

Blood Cancer Discov
Precise gene editing uncovers mis-splicing of BUBR1 and CDC27 in human SF3B1-mutant HSPCs, leading to activation of mitotic checkpoint and rendering the cells sensitive to CHK1 inhibitor prexasertib.
Sarchi M, Clough CA, Crosse EI, Kim J, Baquero Galvis LD, Aydinyan N, Wellington R, Yang F, Gallì A, Creamer JP, Stewart S, Bradley RK, Malcovati L, Doulatov S.   +13 more
europepmc   +2 more sources

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

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   +2 more sources