Results 11 to 20 of about 16,846 (200)

SF3B1 Association with Chromatin Determines Splicing Outcomes

Cell Reports, 2015
Much remains unknown concerning the mechanism by which the splicing machinery pinpoints short exons within intronic sequences and how splicing factors are directed to their pre-mRNA targets.
Nir Kfir, Galit Lev-Maor, Ohad Glaich, Adi Alajem, Arnab Datta, Siu K. Sze, Eran Meshorer, Gil Ast   +7 more
doaj   +4 more sources

U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing

Cells, 2020
Splicing factor 3b subunit 1 (SF3B1) is an essential protein in spliceosomes and mutated frequently in many cancers. While roles of SF3B1 in single intron splicing and roles of its cancer-linked mutant in aberrant splicing have been identified to some ...
Namjeong Choi, Yongchao Liu, Jagyeong Oh, Jiyeon Ha, Xuexiu Zheng, Haihong Shen   +5 more
doaj   +3 more sources

The metabolic reprogramming and vulnerability of SF3B1 mutations [PDF]

Molecular & Cellular Oncology, 2020
Mutations in the splicing factor 3b subunit 1 (SF3B1) gene create a neomorphic protein that disrupts RNA splicing, but the downstream consequences of this missplicing are unclear.
W. Brian Dalton
doaj   +3 more sources

Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower-Risk Myelodysplastic Syndromes (LR-MDS) in the COMMANDS Study. [PDF]

Am J Hematol
ABSTRACT The COMMANDS trial established luspatercept as a first‐line treatment for anemia in transfusion‐dependent lower‐risk (LR) myelodysplastic syndromes (MDS). Here we report red blood cell (RBC) transfusion response analysis based on somatic mutations profile and disease risk for patients treated with luspatercept or epoetin alfa in the COMMANDS ...
Komrokji RS, Hayati S, Ugidos M, Garcia-Manero G, Della Porta MG, Zeidan AM, Santini V, Platzbecker U, Gandhi AK, Suragani RNVS.   +9 more
europepmc   +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   +3 more sources

Clonal haematopoiesis in chronic lymphocytic leukaemia: Biology, inflammaging and clinical implications in the era of targeted therapy. [PDF]

Clin Transl Med
In an ageing and inflamed haematopoietic ecosystem, clonal haematopoiesis and chronic lymphocytic leukaemia may originate from shared or parallel stem cell clones. This interaction modulates the effects of targeted therapies and contributes to cytopenias, cardiovascular toxicity, therapy‐related myeloid neoplasms and Richter transformation.
Martino EA, Caserta S, Skafi M, Alvaro ME, Bruzzese A, Amodio N, Lucia E, Olivito V, Labanca C, Mendicino F, Vigna E, Morabito F, Gentile M.   +12 more
europepmc   +2 more sources

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

SF3B1 Mutations in Hematological Malignancies

Cancers, 2022
Recently, mutations in the genes involved in the spliceosome have attracted considerable interest in different neoplasms. Among these, SF3B1 mutations have acquired great interest, especially in myelodysplastic syndromes, as they identify a subgroup of patients who can benefit from personalized therapy. The SF3B1 gene encodes the largest subunit of the
Daniela Cilloni, Federico Itri, Valentina Bonuomo, Jessica Petiti   +3 more
openaire   +3 more sources

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

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