RNA sequence analysis of nasopharyngeal swabs from asymptomatic and mildly symptomatic patients with COVID-19 by Miftahul Faridl, Karlina Mellyani, Karimatu Khoirunnisa, Popi Septiani, Ernawati Arifin Giri-Rachman, Husna Nugrahapraja, Ema Rahmawati, Cut Nur Cinthia Alamanda, Ryan Bayusantika Ristandi, Rifky Walujayati Rachman, Rini Robiani, Azzania Fibriani

“…Results: Both groups of patients underwent a cilia modification and mRNA splicing. Modulations in macroautophagy, epigenetics, and cell cycle processes were observed specifically in the asymptomatic group. …”
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Prognostic value of PNN in prostate cancer and its correlation with therapeutic significance by Ruisong Wang, Ruisong Wang, Ruisong Wang, Ziyi Qin, Huiling Luo, Meisen Pan, Meisen Pan, Mingyao Liu, Mingyao Liu, Pinhong Yang, Pinhong Yang, Pinhong Yang, Tieliu Shi, Tieliu Shi

“…Analyses of the PNN’s co-expression network indicated that PNN plays a role in RNA splicing and spliceosomes. The prognostic methylation signature demonstrated good performance for progression-free survival. …”
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Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease by Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin

“…STGD1 is caused by pathogenic variants in <i>ABCA4</i>, and amongst them, several deep-intronic variants alter the pre-mRNA splicing process, generally resulting in the insertion of pseudoexons (PEs) into the final transcript. …”
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Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing by S. Guang, B. M. O’Brien, A. S. Fine, M. Ying, A. Fatemi, C. L. Nemeth

“…At the gene- and transcript-level, we uncovered that dysregulated RNA splicing, protein translation and metabolism may underlie at least some of the pathophysiological mechanisms in LBSL. …”
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Isoform‐resolved correlation analysis between mRNA abundance regulation and protein level degradation by Barbora Salovska, Hongwen Zhu, Tejas Gandhi, Max Frank, Wenxue Li, George Rosenberger, Chongde Wu, Pierre‐Luc Germain, Hu Zhou, Zdenek Hodny, Lukas Reiter, Yansheng Liu

“…The data further indicate that specific mRNA splicing events such as intron retention significantly impact the protein abundance levels. …”
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Glioblastoma stem cells express non‐canonical proteins and exclusive mesenchymal‐like or non‐mesenchymal‐like protein signatures by Haris Babačić, Silvia Galardi, Husen M. Umer, Mats Hellström, Lene Uhrbom, Nagaprathyusha Maturi, Deborah Cardinali, Serena Pellegatta, Alessandro Michienzi, Gianluca Trevisi, Annunziato Mangiola, Janne Lehtiö, Silvia Anna Ciafrè, Maria Pernemalm

“…Through proteogenomics, we discovered 252 non‐canonical peptides in the GSCs, i.e., protein sequences that are variant or derive from genome regions previously considered non‐protein‐coding, including variants of the heterogeneous ribonucleoproteins implicated in RNA splicing. In summary, GSCs express two protein sets that have an inverse association with clinical outcomes in GBM. …”
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A p53 transcriptional signature in primary and metastatic cancers derived using machine learning by Faeze Keshavarz-Rahaghi, Faeze Keshavarz-Rahaghi, Erin Pleasance, Tyler Kolisnik, Tyler Kolisnik, Steven J. M. Jones, Steven J. M. Jones, Steven J. M. Jones

“…Additionally, we showed that the algorithm successfully detected this signature in samples with apparent silent mutations that affect correct mRNA splicing. Furthermore, we observed that most of the highly ranked genes contributing to the classification extracted from the random forest have known associations with p53 within the literature. …”
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The forgotten variable? Does the euthanasia method and sample storage condition influence an organisms transcriptome – a gene expression analysis on multiple tissues in pigs by B. Chakkingal Bhaskaran, R. Meyermans, W. Gorssen, G. E. Maes, J. Buyse, S. Janssens, N. Buys

“…Non-protein coding genes like snRNAs that play an important role in pre-mRNA splicing can subsequently modify gene expression. …”
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A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31 by Janya Grainok, Ianthe L. Pitout, Fred K. Chen, Samuel McLenachan, Rachael C. Heath Jeffery, Chalermchai Mitrpant, Sue Fletcher

“…Future studies should evaluate the function of the induced PRPF31 protein on pre-mRNA splicing in retinal cells to validate the therapeutic approach for amenable RP11-causing mutations.…”
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Multiomic sequencing of paired primary and metastatic small bowel carcinoids [version 2; peer review: 2 approved] by Sourat Darabi, James R. Howe, Mackenzie D. Postel, Michael J. Demeure, Winnie S. Liang, David W. Craig

“…The detection of several splicing mutations on the DNA level and their consequences at the RNA level suggests that RNA splicing aberrations may be an important mechanism underlying SI-NETs.…”
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Identification of bicalutamide resistance-related genes and prognosis prediction in patients with prostate cancer by Yuezheng Li, Haoyu Wang, Yang Pan, Shangren Wang, Zhexin Zhang, Hang Zhou, Mingming Xu, Xiaoqiang Liu

“…Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses revealed that both modules are involved in RNA splicing. The protein–protein interaction network identified 10 hub genes in the brown module LUC7L3, SNRNP70, PRPF3, LUC7L, CLASRP, CLK1, CLK2, U2AF1L4, NXF1, and THOC1) and 13 in the yellow module (PNN, PPWD1, SRRM2, DHX35, DMTF1, SALL4, MTA1, HDAC7, PHC1, ACIN1, HNRNPH1, DDX17, and HDAC6). …”
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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked <i>LAS1L</i> Gene by Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Klaniewska, Zuzanna Gamrot, Ewa Gronska, Rafal Ploski, Robert Smigiel

“…We suggest that the identified variant impairs the RNA splicing process. Furthermore, we proved the absence of any coding regions by qPCR and sequencing cDNA using amplicon deep sequencing and Sanger sequencing methods. …”
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Detection of polymorphism within leptin gene in Egyptian river buffalo and predict its effects on different molecular levels by Karima F. Mahrous, Mohamad M. Aboelenin, Mohamed A. Rashed, Mahmoud A. Sallam, Hossam E. Rushdi

“…Some SNPs were predicted to have several effects on different biological processes like mRNA splicing, protein stability, and the gene functions.…”
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NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy by Naoki Watanabe, Tetsuya Nagata, Youhei Satou, Satoru Masuda, Takashi Saito, Hidetoshi Kitagawa, Hirofumi Komaki, Kazuchika Takagaki, Shin’ichi Takeda

“…This oligonucleotide strongly promoted exon 53 skipping in a dose-dependent manner during pre-mRNA splicing in rhabdomyosarcoma and DMD patient-derived cells, and it restored dystrophin protein levels in patient-derived cells. …”
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MTA, an RNA m⁶A Methyltransferase, Enhances Drought Tolerance by Regulating the Development of Trichomes and Roots in Poplar by Liang Lu, Yan Zhang, Qizouhong He, Zengxing Qi, Geng Zhang, Wenchao Xu, Tao Yi, Gangning Wu, Ruili Li

“…Proposed biological functions for m⁶A modification include pre-mRNA splicing, RNA stability, cell fate regulation, and embryonic development. …”
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Molecular Genetic Profile of Myelofibrosis: Implications in the Diagnosis, Prognosis, and Treatment Advancements by Tanvi Verma, Nikolaos Papadantonakis, Deniz Peker Barclift, Linsheng Zhang

“…Approximately 80% of myelofibrosis cases harbor additional mutations, frequently in the genes responsible for epigenetic regulation and RNA splicing. Detecting these mutations is crucial for diagnosing myeloproliferative neoplasms (MPNs), especially in cases where no mutations are present in the three driver genes (triple-negative MPNs). …”
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Enhanced IRE1α Phosphorylation/Oligomerization-Triggered XBP1 Splicing Contributes to Parkin-Mediated Prevention of SH-SY5Y Cell Death under Nitrosative Stress by Tsung-Lang Chiu, Hsin-Yi Huang, Hui-Fen Chang, Hsin-Rong Wu, Mei-Jen Wang

“…Inhibition of XBP1 mRNA splicing either by pharmacologically inhibiting IRE1α endoribonuclease activity or by genetically knocking down XBP1 interfered with the protective activity of parkin. …”
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Mg²⁺ Transporters in Digestive Cancers by Julie Auwercx, Pierre Rybarczyk, Philippe Kischel, Isabelle Dhennin-Duthille, Denis Chatelain, Henri Sevestre, Isabelle Van Seuningen, Halima Ouadid-Ahidouch, Nicolas Jonckheere, Mathieu Gautier

“…Mg²⁺ homeostasis is regulated by Mg²⁺ transporters including Mitochondrial RNA Splicing Protein 2 (MRS2), Transient Receptor Potential Cation Channel Subfamily M, Member 6/7 (TRPM6/7), Magnesium Transporter 1 (MAGT1), Solute Carrier Family 41 Member 1 (SCL41A1), and Cyclin and CBS Domain Divalent Metal Cation Transport Mediator (CNNM) proteins. …”
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Characterization of an MLC patient carrying two MLC1 variants showing radiological improvement by Clara Mayayo-Vallverdú, Laura Ferigle, Marta Vecino-Pérez, Julián Lara, Virginia Nunes, Raúl Estévez

“…The patient is heterozygous for the variants c.597+37C>G and c.895–1G>T affecting both mRNA splicing, and the latest causes the deletion p.Pro299_Glu353del. …”
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Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency by Elvezia Maria Paraboschi, Marzia Menegatti, Flora Peyvandi, Stefano Duga, Rosanna Asselta

“…The remaining six genetic defects (all putative splicing mutations) were investigated for their possible effects on pre-mRNA splicing by transient transfection experiments in HeLa cells with plasmids expressing appropriate hybrid minigenes. …”
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