Results 21 to 30 of about 9,817 (177)

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
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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
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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

SF3B1 and the riddle of the ring sideroblast [PDF]

Blood, 2012
In this issue of Blood , Visconte and colleagues report on their investigations into the pathophysiologic effects of altered SF3B1 in patients with myelodysplastic syndromes (MDS).[1][1] A crucial component of the spliceosomal U2snRNP complex, SF3B1 participates in normal RNA splicing.
openaire   +2 more sources

Glycolysis Dependency as a Hallmark of SF3B1-Mutated Cells

Cancers, 2022
SF3B1 mutations are recurrent in cancer and result in aberrant splicing of a previously defined set of genes. Here, we investigated the fate of aberrant transcripts induced by mutant SF3B1 and the related functional consequences. We first demonstrate that mutant SF3B1 does not alter global nascent protein synthesis, suggesting target-dependent ...
Raquel Vivet-Noguer, Malcy Tarin, Christine Canbezdi, Stephane Dayot, Lisseth Silva, Alexandre Houy, Sylvain Martineau, Virginie Mieulet, Géraldine Gentric, Damarys Loew, Bérangère Lombard, Fariba Nemati, Sophie Richon, Lea Guyonnet, Vincent Servois, Stephan Vagner, Marc-Henri Stern, Sergio Roman-Roman, Samar Alsafadi   +18 more
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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

Lack of SF3B1 R625 mutations in cutaneous melanoma [PDF]

Diagnostic Pathology, 2013
Abstract Background Melanoma is a deadly disease affecting people worldwide. Genetic studies have identified different melanoma subtypes characterized by specific recurrently mutated genes and led to the successful clinical introduction of targeted therapies.
Schilling, Bastian, Bielefeld, Nicola, Sucker, Antje, Hillen, Uwe, Zimmer, Lisa, Schadendorf, Dirk, Zeschnigk, Michael, Griewank, Klaus   +7 more
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Studying the connection between SF3B1 and four types of cancer by analyzing networks constructed based on published research

Scientific Reports, 2023
Splicing factor 3B subunit 1 (SF3B1) is the largest component of SF3b protein complex which is involved in the pre-mRNA splicing mechanism. Somatic mutations of SF3B1 were shown to be associated with aberrant splicing, producing abnormal transcripts that
Asmaa Samy, Mehmet Kemal Ozdemir, Reda Alhajj   +2 more
doaj   +1 more source

Comparison of SF3B1/DNMT3A Comutations With DNMT3A or SF3B1 Mutation Alone in Myelodysplastic Syndrome and Clonal Cytopenia of Undetermined Significance [PDF]

American Journal of Clinical Pathology, 2020
Abstract Objectives To compare the clinical significance of SF3B1/DNMT3A Comutations with SF3B1 or DNMT3A mutation alone in myelodysplastic syndrome (MDS) and clonal cytopenia of undetermined significance (CCUS). Methods We identified
Hailing Zhang, Lynn Moscinski, Pukhraz Basra, David Gajzer, Ling Zhang, Haipeng Shao, Xiaohui Zhang, Dahui Qin, Mohammad Hussaini, Jinming Song   +9 more
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The splicing factor Sf3b1 regulates erythroid maturation and proliferation via TGFβ signaling in zebrafish

Blood Advances, 2019
: The spliceosomal component Splicing Factor 3B, subunit 1 (SF3B1) is one of the most prevalently mutated factors in the bone marrow failure disorder myelodysplastic syndrome.
Adriana De La Garza, Rosannah C. Cameron, Varun Gupta, Ellen Fraint, Sara Nik, Teresa V. Bowman   +5 more
doaj   +1 more source