Identification and Characterization of Alternatively Spliced Transcript Isoforms of <i>IRX4</i> in Prostate Cancer by Achala Fernando, Chamikara Liyanage, Afshin Moradi, Panchadsaram Janaththani, Jyotsna Batra

“…However, tumor growth, metastasis and therapy resistance benefit from aberrant RNA splicing. Iroquois-class homeodomain protein 4 (IRX4) is a TALE homeobox transcription factor which has been implicated in prostate cancer (PCa) as a tumor suppressor through genome-wide association studies (GWAS) and functional follow-up studies. …”
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Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria by Yanping Zhang, Han Xiao, Qiuhong Xiong, Changxin Wu, Ping Li

“…The in vitro expression analysis showed that these mutations caused abnormal <i>HMBS</i> mRNA splicing and premature termination or partial missing of HMBS protein. …”
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TDP-43 and NEAT long non-coding RNA: Roles in neurodegenerative disease by Durairaj Sekar, Deusdedit Tusubira, Kehinde Ross, Kehinde Ross

“…We highlight key areas for investigation based on recent advances in our understanding of how TDP-43 affects neuronal function, especially in relation to messenger ribonucleic acid (mRNA) splicing. Finally, we offer perspectives that should be considered for translational pipelines in order to improve health outcomes for the management of neurodegenerative diseases.…”
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A pan-cancer analysis of the role of USP5 in human cancers by Bokang Yan, Jiaxing Guo, Shuang Deng, Dongliang Chen, Meiyuan Huang

“…Gene enrichment analysis indicated “spliceosome” and “RNA splicing” may be the critical mechanism for USP5 to involve in cancer. …”
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Peptide nucleic acid-zirconium coordination nanoparticles by Özgür Öztürk, Anna-Lina Lessl, Miriam Höhn, Stefan Wuttke, Peter E. Nielsen, Ernst Wagner, Ulrich Lächelt

“…PNA-Zr nanoparticles, coated with a cationic lipopeptide, successfully delivered an antisense PNA sequence for splicing correction of the $$\beta$$ β -globin intron mutation IVS2-705 into a functional reporter cell line and mediated splice-switching via interaction with the endogenous mRNA splicing machinery. The presented PNA-Zr nanoparticles represent a bioactive platform with high design flexibility and extraordinary PNA loading capacity, where the nucleic acid constitutes an integral part of the material, instead of being loaded into passive delivery systems.…”
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Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis by Jian-Wen Hou, Xiao-Liang Li, Li Wang, Cong-Ling Dai, Na Li, Xiao-Hui Jiang, Yue-Qiu Tan, Er-Po Tian, Qin-Tong Li, Wen-Ming Xu

“…In spermatocyte GC-2(spd)ts (GC2) Cftr p.G965D cells, RNA splicing variants were detected and CFTR expression decreased, which may contribute to the phenotypes associated with impaired spermatogenesis. …”
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Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large by Na Pu, Emmanuelle Masson, David N. Cooper, Emmanuelle Génin, Claude Férec, Jian-Min Chen

“…The different hypotheses tested addressed whether the N34S missense variant has a direct impact on enzyme structure and function, whether c.101A>G could affect pre-mRNA splicing or mRNA stability, and whether another variant in linkage disequilibrium with c.101A>G might be responsible for the observed association with CP. …”
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A CNN based m5c RNA methylation predictor by Irum Aslam, Sajid Shah, Saima Jabeen, Mohammed ELAffendi, Asmaa A. Abdel Latif, Nuhman Ul Haq, Gauhar Ali

“…Abstract Post-transcriptional modifications of RNA play a key role in performing a variety of biological processes, such as stability and immune tolerance, RNA splicing, protein translation and RNA degradation. …”
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The roles of RNA N6-methyladenosine in esophageal cancer by Chuan Teng, Fanhua Kong, Jinggang Mo, Weidong Lin, Chong Jin, Kunpeng Wang, Ying Wang

“…These regulatory factors recognise and bind to RNA methylation sites, regulate biological functions such as RNA splicing and translation and influence the occurrence, development, invasion and metastasis of tumours. …”
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A novel strategy to uncover specific GO terms/phosphorylation pathways in phosphoproteomic data in Arabidopsis thaliana by Denise S. Arico, Paula Beati, Diego L. Wengier, Maria Agustina Mazzella

“…Using this strategy, we found that mRNA splicing and cytoplasmic microtubule compounds are important processes specifically enriched in the phosphoproteome of dark-grown Arabidopsis seedlings. …”
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Translated Mutant <i>DSPP</i> mRNA Expression Level Impacts the Severity of Dentin Defects by Youn Jung Kim, Yejin Lee, Hong Zhang, Figen Seymen, Mine Koruyucu, Sule Bayrak, Nuray Tuloglu, James P. Simmer, Jan C.-C. Hu, Jung-Wook Kim

“…(Gln45=)) were identified, all of which affected pre-mRNA splicing. Comparison of the splicing assay results revealed that the expression level of the <i>DSPP</i> exon 3 deletion transcript correlated with the severity of the dentin defects. …”
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Neoantigens: promising targets for cancer therapy by Na Xie, Guobo Shen, Wei Gao, Zhao Huang, Canhua Huang, Li Fu

“…Neoantigens are newly formed antigens generated by tumor cells as a result of various tumor-specific alterations, such as genomic mutation, dysregulated RNA splicing, disordered post-translational modification, and integrated viral open reading frames. …”
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Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes by Barendse William, Khatkar Mehar, Lutzow Ylva, Lynn David J, McWilliam Sean, Hobbs Matthew, Whan Vicki, Raadsma Herman, Tellam Ross L

“…In addition, the coding sequence CAG repeats in some bovine genes impacted mRNA splicing thereby generating unusual transcriptional diversity, which in at least one instance was tissue-specific. …”
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PLK1 and AURKB phosphorylate survivin differentially to affect proliferation in racially distinct triple-negative breast cancer by Chakravarthy Garlapati, Shriya Joshi, Shristi Bhattarai, Jayashree Krishnamurthy, Ravi Chakra Turaga, Thi Nguyen, Xiaoxian Li, Ritu Aneja

“…Abstract Protein diversity due to alternative mRNA splicing or post-translational modifications (PTMs) plays a vital role in various cellular functions. …”
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Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceE... by Elena Putscher, Michael Hecker, Brit Fitzner, Peter Lorenz, Uwe Klaus Zettl

“…We further elaborate on how analyses on the regulation of RNA splicing offer promising prospects for gaining important insights into disease mechanisms.…”
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Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52 by Jessica M. Cale, Kane Greer, Sue Fletcher, Steve D. Wilton

“…Here, we describe in vitro evaluation of antisense oligonucleotides designed to mediate exclusion of <i>FBN1</i> exon 52 during pre-mRNA splicing to restore monomer homology. Antisense oligonucleotide sequences were screened in healthy control fibroblasts. …”
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Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: a case report by Waseem Chauhan, Rafat Fatma, Zeeba Zaka-ur-Rab, Mohammad Afzal

“…The variants must therefore be reclassified using additional mRNA splicing and expression-based studies. Additionally, these types of combinations may have significance in studying population migration around the world.…”
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GObar: A Gene Ontology based analysis and visualization tool for gene sets by Katari Gurpreet, Lee Jason SM, Sachidanandam Ravi

“…We analyse a gene list from a genomic study of pre-mRNA splicing to demonstrate the utility of GObar.</p> <p>Conclusion</p> <p>GObar is freely available as a web-based tool at <url>http://katahdin.cshl.org:9331/GO</url><abbrgrp><abbr bid="B2">2</abbr></abbrgrp> and can help analyze and visualize gene lists from genomic analyses.…”
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Progress of research on m6A demethylases in gastric cancer by JIANG Shuang, YU Jiwei

“…As the most common form of RNA modification in eukaryotes, m6A can regulate various stages of the RNA cycle, including RNA splicing, processing, degradation, and translation, thereby regulating RNA expression and function, playing a critical role in various pathways such as cell differentiation, development, and metabolism. …”
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Acidification of tumor at stromal boundaries drives transcriptome alterations associated with aggressive phenotypes by Rohani, Nazanin, Hao, Liangliang, Alexis, Maria S, Joughin, Brian A, Krismer, Konstantin, Moufarrej, Mira N, Soltis, Anthony R, Lauffenburger, Douglas A, Yaffe, Michael B, Burge, Christopher B, Bhatia, Sangeeta N, Gertler, Frank B

“…RNA-seq analysis of cells exposed to low pH conditions revealed a general rewiring of the transcriptome that involved RNA splicing and enriched for targets of RNA binding proteins with specificity for AU-rich motifs. …”
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