scholarly journals Aberrant RNA Splicing and Therapeutic Opportunities in Cancers

2021 ◽  
Author(s):  
Hirofumi Yamauchi ◽  
Kazuki Nishimura ◽  
Akihide Yoshimi
Keyword(s):  
Rna Splicing ◽  
Aberrant Rna

scholarly journals Aberrant RNA Splicing Events Driven by Mutations of RNA-Binding Proteins as Indicators for Skin Cutaneous Melanoma Prognosis

2020 ◽  
Vol 10 ◽  
Author(s):  
Chao Mei ◽  
Pei-Yuan Song ◽  
Wei Zhang ◽  
Hong-Hao Zhou ◽  
Xi Li ◽  
...  
Keyword(s):  
Cutaneous Melanoma ◽  
Rna Splicing ◽  
Binding Proteins ◽  
Rna Binding ◽  
Rna Binding Proteins ◽  
Melanoma Prognosis ◽  
Aberrant Rna

scholarly journals A Genome-Wide Aberrant RNA Splicing in Patients with Acute Myeloid Leukemia Identifies Novel Potential Disease Markers and Therapeutic Targets

2013 ◽  
Vol 20 (5) ◽  
pp. 1135-1145 ◽  
Author(s):  
Sophia Adamia ◽  
Benjamin Haibe-Kains ◽  
Patrick M. Pilarski ◽  
Michal Bar-Natan ◽  
Samuel Pevzner ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Rna Splicing ◽  
Myeloid Leukemia ◽  
Therapeutic Targets ◽  
Disease Markers ◽  
Genome Wide ◽  
A Genome ◽  
Aberrant Rna ◽  
Acute Myeloid

scholarly journals A Common Human β Globin Splicing Mutation Modeled in Mice

Blood ◽  
1998 ◽  
Vol 91 (6) ◽  
pp. 2152-2156 ◽  
Author(s):  
Jada Lewis ◽  
Baoli Yang ◽  
Ronald Kim ◽  
Halina Sierakowska ◽  
Ryszard Kole ◽  
...  
Keyword(s):  
Animal Model ◽  
Rna Splicing ◽  
Southern China ◽  
Embryonic Stem ◽  
Mutant Gene ◽  
Single Copy ◽  
Globin Genes ◽  
Globin Chains ◽  
Splicing Defects ◽  
Aberrant Rna

Abstract The βIVS-2-654 C→T mutation accounts for approximately 20% of β thalassemia mutations in southern China; it causes aberrant RNA splicing and leads to β0 thalassemia. To provide an animal model for testing therapies for correcting splicing defects, we have used the “plug and socket” method of gene targeting in murine embryonic stem cells to replace the two (cis) murine adult β globin genes with a single copy of the human βIVS-2-654 gene. No homozygous mice survive postnatally. Heterozygous mice carrying this mutant gene produce reduced amounts of the mouse β globin chains and no human β globin, and have a moderate form of β thalassemia. The heterozygotes show the same aberrant splicing as their human counterparts and provide an animal model for testing therapies to correct splicing defects at either the RNA or DNA level.

scholarly journals In Silico Analysis of a Highly Mutated Gene in Cancer Provides Insight into Abnormal mRNA Splicing: Splicing Factor 3B Subunit 1K700E Mutant

Biomolecules ◽  
2020 ◽  
Vol 10 (5) ◽  
pp. 680 ◽  
Author(s):  
Asmaa Samy ◽  
Baris Suzek ◽  
Mehmet Ozdemir ◽  
Ozge Sensoy
Keyword(s):  
Rna Splicing ◽  
In Silico Analysis ◽  
Therapy Resistance ◽  
Mrna Splicing ◽  
Splicing Factor ◽  
Cancer Types ◽  
Dynamics Simulations ◽  
Aberrant Rna ◽  
The Impact ◽  
Splicing Machinery

Cancer is the second leading cause of death worldwide. The etiology of the disease has remained elusive, but mutations causing aberrant RNA splicing have been considered one of the significant factors in various cancer types. The association of aberrant RNA splicing with drug/therapy resistance further increases the importance of these mutations. In this work, the impact of the splicing factor 3B subunit 1 (SF3B1) K700E mutation, a highly prevalent mutation in various cancer types, is investigated through molecular dynamics simulations. Based on our results, K700E mutation increases flexibility of the mutant SF3B1. Consequently, this mutation leads to i) disruption of interaction of pre-mRNA with SF3B1 and p14, thus preventing proper alignment of mRNA and causing usage of abnormal 3’ splice site, and ii) disruption of communication in critical regions participating in interactions with other proteins in pre-mRNA splicing machinery. We anticipate that this study enhances our understanding of the mechanism of functional abnormalities associated with splicing machinery, thereby, increasing possibility for designing effective therapies to combat cancer at an earlier stage.

Abstract 4471: Novel SF3B1 deletion mutations result in aberrant RNA splicing in CLL patients

2017 ◽  
Author(s):  
Anant A. Agrawal ◽  
Michael Seiler ◽  
Lindsey Brinton ◽  
Rose Mantel ◽  
Rosa Lapalombella ◽  
...  
Keyword(s):  
Rna Splicing ◽  
Deletion Mutations ◽  
Aberrant Rna

scholarly journals Aberrant RNA Splicing in Cancer

2019 ◽  
Vol 3 (1) ◽  
pp. 167-185 ◽  
Author(s):  
Luisa Escobar-Hoyos ◽  
Katherine Knorr ◽  
Omar Abdel-Wahab
Keyword(s):  
Small Molecules ◽  
Rna Splicing ◽  
Clinical Development ◽  
Splicing Factors ◽  
Global Changes ◽  
Splicing Regulation ◽  
Enzymatic Process ◽  
Patients With Cancer ◽  
Aberrant Rna

RNA splicing, the enzymatic process of removing segments of premature RNA to produce mature RNA, is a key mediator of proteome diversity and regulator of gene expression. Increased systematic sequencing of the genome and transcriptome of cancers has identified a variety of means by which RNA splicing is altered in cancer relative to normal cells. These findings, in combination with the discovery of recurrent change-of-function mutations in splicing factors in a variety of cancers, suggest that alterations in splicing are drivers of tumorigenesis. Greater characterization of altered splicing in cancer parallels increasing efforts to pharmacologically perturb splicing and early-phase clinical development of small molecules that disrupt splicing in patients with cancer. Here we review recent studies of global changes in splicing in cancer, splicing regulation of mitogenic pathways critical in cancer transformation, and efforts to therapeutically target splicing in cancer.

SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome

2020 ◽  
Author(s):  
Gou Yamamoto ◽  
Izumi Miyabe ◽  
Keisuke Tanaka ◽  
Miho Kakuta ◽  
Motoko Watanabe ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Rna Splicing ◽  
Mmr Genes ◽  
Retrotransposon Insertion ◽  
Aberrant Rna

Aberrant RNA splicing in thehMSH2 gene: Molecular identification of three aberrant RNA in Scottish patients with colorectal cancer in the West of Scotland

2000 ◽  
Vol 95 (1) ◽  
pp. 49-52 ◽  
Author(s):  
Abdoreza Davoodi-Semiromi ◽  
George W. Lanyon ◽  
Rosemary Davidson ◽  
Michael J. Connor
Keyword(s):  
Colorectal Cancer ◽  
Molecular Identification ◽  
Rna Splicing ◽  
The West ◽  
Aberrant Rna

scholarly journals Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes

Oncogene ◽  
2015 ◽  
Vol 35 (19) ◽  
pp. 2413-2427 ◽  
Author(s):  
A Sveen ◽  
S Kilpinen ◽  
A Ruusulehto ◽  
R A Lothe ◽  
R I Skotheim
Keyword(s):  
Rna Splicing ◽  
Splicing Factor ◽  
Driver Mutations ◽  
Aberrant Rna

scholarly journals Aberrant RNA splicing and its functional consequences in cancer cells

2008 ◽  
Vol 1 (1) ◽  
pp. 37-42 ◽  
Author(s):  
J. D. Fackenthal ◽  
L. A. Godley
Keyword(s):  
Cancer Cells ◽  
Rna Splicing ◽  
Functional Consequences ◽  
Aberrant Rna
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