Results 11 to 20 of about 10,998 (173)

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
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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
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Supporting data for “Elucidating the Role of PHF5A-SF3B1-DLC1 Splicing Complex in Avian Trunk Neural Crest Specification”

, 2022
   This dataset contains multiple qualitative and quantitative analyses mentioned below and two oral/poster presentation files related to the study of splicing complex PHF5A-SF3B1-DLC1 on the expression of specifier genes in avian trunk neural crest ...
Zhengfan Zheng (9067496)
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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
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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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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.
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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. Our recent study of isogenic human cells demonstrated that SF3B1 MUT induces reprogramming of energy metabolism and a targetable vulnerability to deprivation of the ...
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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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Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3' splice sites. [PDF]

RNA Biol
SF3B1 is a core component of the spliceosome involved in branch point recognition and 3’ splice site selection. The SF3B1 K700E mutation (lysine to glutamic acid) is common in myelodysplastic syndrome and other blood disorders.
Herbert A, Hatfield A, Randazza A, Miyamoto V, Palmer K, Lackey L.   +5 more
europepmc   +2 more sources

SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas [PDF]

, 2016
Introduction: Like uveal melanomas, primary leptomeningeal melanocytic neoplasms (LMNs) frequently carry GNAQ and GNA11 mutations. However, it is currently unknown whether these LMNs harbor mutations in BAP1, SF3B1 and/or EIF1AX like uveal melanomas as ...
Wesseling, Pieter, Blokx, Willeke AM, Groenen, Patricia JTA, Heidi V. N. Küsters-Vandevelde, Benno Küsters, Willeke A. M. Blokx, Kusters-vandevelde, H.V., Blokx, Willeke A. M., Adriana C. H. van Engen-van Grunsven, Engen-van Grunsven, A.C.H. van, Prinsen, Clemens FM, Küsters-Vandevelde, Heidi V N, Blokx, W.A., Patricia J. T. A. Groenen, Veronique Winnepenninckx, van Engen- van Grunsven, Adriana CH, Groenen, Patricia J. T. A., Creytens, David, Jeunink, M., van Engen-van Grunsven, Adriana C H, Blokx, Willeke A M, Küsters-Vandeveld, Heidi VN, Kusters, B., Kusters-Vandevelde, Heidi V. N., Wesseling, P., Winnepenninckx, Veronique, Marcel Jeunink, David Creytens, Pieter Wesseling, Clemens F. M. Prinsen, Groenen, P.J., Creytens, D., Prinsen, Clemens F. M., Prinsen, Clemens F.M., Jeunink, Marcel, van Engen-van Grunsven, Adriana C. H., Groenen, Patricia J T A, Winnepenninckx, V., Prinsen, C.F., Küsters, Benno   +39 more
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