Case Report: A 3’ splice site variation in RORB exon 3 associated with idiopathic generalized epilepsy in a child by Dandan Shi, Nannan Li, Caifang Fan, Qiang Luo

“…This c.94-1G>A variant disrupts normal mRNA splicing, leading to the premature termination of the RORB protein. …”
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New insights into N6-methyladenosine in hepatocellular carcinoma immunotherapy by Mengran Li, Mengran Li, Hu Tian, Yanshuang Zhuang, Zili Zhang, Zili Zhang

“…This modification is crucial for controlling important functions that are vital for gene expression, including mRNA splicing, stability, and translation. Due to its intricate participation in both normal cellular processes and the course of disease, as well as its critical role in determining cell fate, N6-methyladenosine (m6A) alteration has recently attracted a lot of interest. …”
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XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T Gene Polymorphisms Associated with Male Infertility Risk: Evidences from Case-Control and In Silico Studies by Danial Jahantigh, Abasalt Hosseinzadeh Colagar

“…The XRCC7 6721G>T gene polymorphism occurred in an acceptor-splicing site, but this polymorphism has no severe modification on XRCC7 mRNA splicing. Our results indicate the association of XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T gene polymorphisms with male infertility in Iranian men.…”
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Landscape of Alternative Splicing Events Related to Prognosis and Immune Infiltration in Glioma: A Data Analysis and Basic Verification by Hong-xin Su, Gang Yang, Fei Su, Chen-xiao Hu, Tao Zhang, Jun-tao Ran, Quan-lin Guan

“…This study was aimed at identifying AS events and novel biomarkers associated with survival for glioma. Methods. RNA splicing patterns were collected from The Cancer Genome Atlas SpliceSeq database, followed by calculating the percentage of splicing index. …”
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Whole blood transcriptome profile identifies motor neurone disease RNA biomarker signatures by Sulev Kõks, Sulev Kõks, Karin Rallmann, Mari Muldmaa, Mari Muldmaa, Jack Price, Abigail L. Pfaff, Abigail L. Pfaff, Pille Taba

“…Functional genomic annotation identified activation of the pathways related to neurodegeneration, RNA transcription, RNA splicing and extracellular matrix reorganisation. …”
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DSIF factor Spt5 coordinates transcription, maturation and exoribonucleolysis of RNA polymerase II transcripts by Krzysztof Kuś, Loic Carrique, Tea Kecman, Marjorie Fournier, Sarah Sayed Hassanein, Ebru Aydin, Cornelia Kilchert, Jonathan M. Grimes, Lidia Vasiljeva

“…Spt5 is also a key factor that attenuates the expression of non-coding transcripts, coordinates pre-mRNA splicing and 3’-end processing. Our findings indicate that engagement with the transcribing Pol II is an essential regulatory step modulating the activity of RNA enzymes such as Xrn2, thus advancing our understanding of how RNA maturation is controlled during transcription.…”
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Purine-rich element binding protein alpha: a DNA/RNA binding protein with multiple roles in cancers by Shiyi Yu, Chengyang Jiang, Yawen Yang, Fei Cheng, Fangchen Liu, Chang Liu, Xue Gong

“…Abstract Proteins that bind to DNA/RNA are typically evolutionarily conserved with multiple regulatory functions in transcription initiation, mRNA translation, stability of RNAs, and RNA splicing. Therefore, dysregulation of DNA/RNA binding proteins such as purine-rich element binding protein alpha (PURα) disrupts signaling transduction and often leads to human diseases including cancer. …”
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Coupling of alternative splicing and alternative polyadenylation by Zhang Xueying, Liu Feiyan, Zhou Yu

“…RNA splicing and 3′-cleavage and polyadenylation (CPA) are essential processes for the maturation of RNA. …”
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PGC1α −1 Nucleosome Position and Splice Variant Expression and Cardiovascular Disease Risk in Overweight and Obese Individuals by Tara M. Henagan, Laura K. Stewart, Laura A. Forney, Lauren M. Sparks, Neil Johannsen, Timothy S. Church

“…PGC1α expression is epigenetically regulated in skeletal muscle to determine mitochondrial adaptations, and epigenetic modifications may regulate mRNA splicing. We report in this paper that skeletal muscle PGC1α  −1 nucleosome (−1N) position is associated with splice variant NTPGC1α but not FLPGC1α expression. …”
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Cooperative condensation of RNA-DIRECTED DNA METHYLATION 16 splicing isoforms enhances heat tolerance in Arabidopsis by Jing Ma, Shuai Li, Tengyue Wang, Zhen Tao, Shijie Huang, Ning Lin, Yibing Zhao, Chuanhong Wang, Peijin Li

“…Here, we identify a heat-responsive gene in Arabidopsis thaliana, RNA-DIRECTED DNA METHYLATION 16 (RDM16), which encodes a pre-mRNA splicing factor. Knockout mutants of RDM16 are hypersensitive to heat stress, which is associated with impaired splicing of the mRNAs of 18 out of 20 HEAT SHOCK TRANSCRIPTION FACTOR (HSF) genes. …”
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Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells by Benjamin M. Nash, To Ha Loi, Milan Fernando, Amin Sabri, James Robinson, Anson Cheng, Steven S. Eamegdool, Elizabeth Farnsworth, Bruce Bennetts, John R. Grigg, Seo-Kyung Chung, Anai Gonzalez-Cordero, Robyn V. Jamieson

“…The synonymous variant was suspected to affect RNA splicing. Since RPE65 is very poorly expressed in all tissues except the retinal pigment epithelium (RPE), we generated hiPSC-derived RPE cells from the parental carrier of the synonymous variant. …”
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Discovery of novel PRMT1 inhibitors: a combined approach using AI classification model and traditional virtual screening by Jungan Zhang, Yixin Ren, Yixin Ren, Yun Teng, Han Wu, Jingsu Xue, Lulu Chen, Xiaoyue Song, Yan Li, Ying Zhou, Zongran Pang, Zongran Pang, Hao Wang, Hao Wang, Hao Wang

“…Protein arginine methyltransferases (PRMTs) play crucial roles in gene regulation, signal transduction, mRNA splicing, DNA repair, cell differentiation, and embryonic development. …”
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Nanoplastics induces arrhythmia in human stem-cells derived cardiomyocytes by Shirley Pei Shan Chia, Jeremy Kah Sheng Pang, Winanto Winanto, Boon-Seng Soh

“…Complementing these in vitro findings, transcriptome profiling of mice exposed to NPs for 8 weeks revealed disrupted RNA splicing, dysregulated protein translation, and defective protein folding. …”
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Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression by Daphne Wijnbergen, Mridul Johari, Ozan Ozisik, Peter A.C. ‘t Hoen, Friederike Ehrhart, Anaïs Baudot, Chris T. Evelo, Bjarne Udd, Marco Roos, Eleni Mina

“…These subnetworks are related to antigen processing and presentation, chemokine-mediated signaling, immune response-signal transduction, rRNA processing, and mRNA splicing. An interesting finding is that the antigen processing and presentation subnetwork links the underexpressed miR-16-5p to overexpressed HLA genes by negative expression correlation. …”
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Deciphering the regulatory programs of RNA binding proteins in rheumatoid arthritis through single-cell transcriptome analysis by Hongbin Luo, Qunya Zheng, Youzheng Zhou, Weipeng Lai, Nanwen Zhang, Peng Chen

“…Single-cell RNA sequencing (scRNA-seq) data from published datasets were obtained to investigate the expression and dysregulation of RNA-binding proteins (RBPs), which are critical for alternative mRNA splicing and translational control in rheumatoid arthritis (RA). …”
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Comparative proteomics analysis reveals the domesticated Lepista sordida primordium differentiation regulation mechanism and the subsequent different development patterns in the pi... by Xiuqing Yang, Meijie Liu, Yanjiao Zhang, Lizhong Guo, Junqi Wang, Sizhu Li, Yan Zhang, Xiaobo Li, Lili Xu, Hao Yu

“…The highly expressed proteins related to transcription, RNA splicing, the production of various organelles, DNA conformational change, nucleosome organization, protein processing, maturation and transport, and cell detoxification regulated the pileus development and maturity. …”
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Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families by Abdulfatah M. Alayoubi, Ambreen Ijaz, Abdul Wali, Jamil A. Hashmi, Azizah Alharbi, Sulman Basit

“…Moreover, in this study, the importance of a synonymous exonic variant of PEX26 close to the splice donor site was explored in relation to pre-mRNA splicing and resulting disease manifestations.…”
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Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency by Haishao Yu, Haishao Yu, Shuangzhu Lin, Lin Li, Jiayi Li, Qiandui Chen, Yuheng Wu, Yangfan Qi, Wanqi Wang, Xingzhi Chang, Jie Zhang

“…Peripheral blood mRNA reverse transcription-Sanger sequencing confirmed that this variant affected mRNA splicing, resulting in a frameshift with premature stop codon c.1083_1103del p. …”
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Identification of blood transcriptome modules associated with suicidal ideation in patients with major depressive disorder by Min Wang, Hailin Xiang, Jinxue Wei, Yikai Dou, Yushun Yan, Yue Du, Huanhuan Fan, Liansheng Zhao, Rongjun Ni, Xiao Yang, Xiaohong Ma

“…Results indicated that the magenta module (associated with RNA splicing processes) differentiated MDD_SI from MDD_nSI (p = 0.021), while the green module (related to immune and inflammatory responses) distinguished MDD_SI from HC (p = 0.004). …”
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Identification of the RHD novel allele c. 801+2T>G and study of its effect on RhD phenotype in vitro by JIA Shuangshuang, WEN Jizhi, WEI Ling, ZHANG Runqing, LUO Guangping, JI Yanli

“…By using an in vitro micro gene splicing system, the mRNA splicing results were detected and analyzed using agarose and capillary electrophoresis to predict their impact on RhD phenotype. …”
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