The transcriptome of peripheral blood mononuclear cells in patients with clinical subtypes of late age-related macular degeneration by Yousif Subhi, Marie Krogh Nielsen, Christopher Rue Molbech, Charlotte Liisborg, Helle Bach Søndergaard, Finn Sellebjerg, Torben Lykke Sørensen

“…In a subgroup analysis, we investigated presence vs. absence of subretinal fibrosis and found 826 differentially expressed genes (≥30% higher/lower, P < 0.05) with relation to mRNA splicing, endothelial migration, and interleukin-1 signaling. …”
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A novel mutation in the WNT6 gene of congenital tooth agenesis by DAI Zhuo, LI Lili, ZHANG Xiaoxin, MOU Yongbin, CHEN Bin

“…A cell-based gene transfection assay demonstrated that it did not alter the mRNA splicing of WNT6. Conclusion The interaction between single nucleotide polymorphisms may contribute to congenital tooth agenesis.…”
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The Exon Junction Complex Factor RBM8A in Glial Fibrillary Acid Protein-Expressing Astrocytes Modulates Locomotion Behaviors by Shravan Asthana, Jennifer Mott, Mabel Tong, Zifei Pei, Yingwei Mao

“…The role of RNA Binding Motif Protein 8a (RBM8A), an exon junction complex (EJC) component, in neurodevelopmental disorders has been increasingly studied for its crucial role in regulating multiple levels of gene expression. It regulates mRNA splicing, translation, and mRNA degradation and influences embryonic development. …”
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Establishment and validation of an RNA binding protein-associated prognostic model for ovarian cancer by Chaofan He, Fuxin Huang, Kejia Zhang, Jun Wei, Ke Hu, Meng Liang

“…Results We obtained 527 differentially expressed RBPs, which were involved in many important cellular events, such as RNA splicing, the cell cycle, and so on. We predicted several target genes of RBPs, constructed the interaction network of RBPs and their target genes, and obtained many modules from the Cytoscape analysis. …”
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Comparative Proteomic Analysis of Mature and Immature Oocytes of the Swamp Buffalo (Bubalus bubalis) by Qiang Fu, Zhen-Fang Liu, Yu-Lin Huang, Yang-Qing Lu, Ming Zhang

“…The down-regulation of GEMIN8 production implies that RNA splicing is impaired in mature oocytes.…”
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Mucolipidosis Type IV in Omani Families with a Novel <i>MCOLN1</i> Mutation: Search for Evidence of Founder Effect by Badriya Al-Alawi, Beena Harikrishna, Khalid Al-Thihli, Sana Al Zuhabi, Anuradha Ganesh, Zainab Al Hashami, Zeyana Al Dhamhmani, Razan Zadjali, Nafila B. Al Riyami, Fahad Zadjali

“…We describe six patients with MLIV from two Omani families with a novel c.237+5G>A mutation in the <i>MCOLN1</i> gene predicted to affect mRNA splicing. Mutation screening with a high-resolution melting (HRM) assay in a large population sample did not detect this mutation in control subjects. …”
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Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes by Vita Šetrajčič Dragoš, Ksenija Strojnik, Gašper Klančar, Petra Škerl, Vida Stegel, Ana Blatnik, Marta Banjac, Mateja Krajc, Srdjan Novaković

“…Pathogenic/likely pathogenic variants in susceptibility genes that interrupt RNA splicing are a well-documented mechanism of hereditary cancer syndromes development. …”
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Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms by Giuseppe G. Loscocco, Giacomo Coltro, Paola Guglielmelli, Alessandro M. Vannucchi

“…Beyond driver ones, most patients, especially with myelofibrosis, harbor mutations in an array of “myeloid neoplasm-associated” genes that encode for proteins involved in chromatin modification and DNA methylation, RNA splicing, transcription regulation, and oncogenes. …”
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Gene expression correlations in human cancer cell lines define molecular interaction networks for epithelial phenotype. by Kurt W Kohn, Barry M Zeeberg, William C Reinhold, Yves Pommier

“…The most highly correlated genes were implicated in the following epithelial functions: interactions at tight junctions (CLDN7, CLDN4, CLDN3, MARVELD3, MARVELD2, TJP3, CGN, CRB3, LLGL2, EPCAM, LNX1); interactions at adherens junctions (CDH1, ADAP1, CAMSAP3); interactions at desmosomes (PPL, PKP3, JUP); transcription regulation of cell-cell junction complexes (GRHL1 and 2); epithelial RNA splicing regulators (ESRP1 and 2); epithelial vesicle traffic (RAB25, EPN3, GRHL2, EHF, ADAP1, MYO5B); epithelial Ca(+2) signaling (ATP2C2, S100A14, BSPRY); terminal differentiation of epithelial cells (OVOL1 and 2, ST14, PRSS8, SPINT1 and 2); maintenance of apico-basal polarity (RAB25, LLGL2, EPN3). …”
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Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder by David Kainer, Alan R. Templeton, Erica T. Prates, Daniel Jacboson, Euan R.O. Allan, Sharlee Climer, Michael R. Garvin

“…We then identify an SV in the GRIK2 gene that alters RNA splicing and a regulatory region of the ACMSD gene in the kynurenine pathway as significantly associated with a non-verbal ASD phenotype, supporting our hypothesis that these currently excluded loci can provide a clearer mechanistic understanding of ASD. …”
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Transcriptome Analysis of Alternative Splicing Events Induced by Arbuscular Mycorrhizal Fungi (<i>Rhizophagus irregularis</i>) in Pea (<i>Pisum sativum</i> L.) Roots by Evgeny A. Zorin, Alexey M. Afonin, Olga A. Kulaeva, Emma S. Gribchenko, Oksana Y. Shtark, Vladimir A. Zhukov

“…Using three different tools (SUPPA2, DRIMSeq and IsoformSwitchAnalyzeR), eight genes with AS events specific for mycorrhizal roots of pea were identified, among which four were annotated as encoding an apoptosis inhibitor protein, a serine/threonine-protein kinase, a dehydrodolichyl diphosphate synthase, and a pre-mRNA-splicing factor ATP-dependent RNA helicase DEAH1. …”
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Genome-Wide Analysis of Alternative Splicing during Host-Virus Interactions in Chicken by Weiwei Liu, Yingjie Sun, Xusheng Qiu, Chunchun Meng, Cuiping Song, Lei Tan, Ying Liao, Xiufan Liu, Chan Ding

“…Many of the alternatively spliced transcripts were also expressed from genes with a function relating to splicing or immune response, suggesting a potential impact of virus infection on pre-mRNA splicing and immune gene regulation. Moreover, exon skipping was the most frequent AS event in chickens during virus infection. …”
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CHERP Regulates the Alternative Splicing of pre-mRNAs in the Nucleus by Yasutaka Yamanaka, Takaki Ishizuka, Ken-ichi Fujita, Naoko Fujiwara, Masashi Kurata, Seiji Masuda

“…Our global analysis revealed that CHERP regulated alternative mRNA splicing events by interaction with U2 small nuclear ribonucleoproteins (U2 snRNPs) and U2 snRNP-related proteins. …”
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Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex by Linli Liu, Yanbo Wang, Zhengzhong Zhang, Chunshui Yu, Jin Chen

“…Additionally, a minigene splicing assay was conducted to assess the impact of TSC1 c.1030‐2A>T, located in intron 10, on RNA splicing. Results A novel TSC1: c.1030‐2A>T heterozygosis variant was identified in intron 10. …”
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Impact of Molecular Biology in Diagnosis, Prognosis, and Therapeutic Management of <i>BCR::ABL1</i>-Negative Myeloproliferative Neoplasm by Norman Abbou, Pauline Piazzola, Jean Gabert, Vincent Ernest, Robin Arcani, Anne-Laure Couderc, Antoine Tichadou, Pauline Roche, Laure Farnault, Julien Colle, L’houcine Ouafik, Pierre Morange, Régis Costello, Geoffroy Venton

“…Besides the driver mutations, which are <i>JAK2, CALR, and MPL</i>, more than twenty additional mutations have been identified through the use of next-generation sequencing (NGS), which can be involved with pathways that regulate epigenetic modifications, RNA splicing, or DNA repair. The aim of this short review is to highlight the impact of molecular biology on the diagnosis, prognosis, and therapeutic management of patients with PV, ET, and PMF.…”
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Synthetic lethal interactions of DEAD/H-box helicases as targets for cancer therapy by Ananna Bhadra Arna, Hardikkumar Patel, Ravi Shankar Singh, Frederick S. Vizeacoumar, Anthony Kusalik, Andrew Freywald, Franco J. Vizeacoumar, Yuliang Wu

“…DEAD/H-box helicases are implicated in virtually every aspect of RNA metabolism, including transcription, pre-mRNA splicing, ribosomes biogenesis, nuclear export, translation initiation, RNA degradation, and mRNA editing. …”
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Discovery and characterization of 91 novel transcripts expressed in cattle placenta by Band Mark R, Larson Joshua H, Kumar Charu G, Lewin Harris A

“…The authenticity of the NTs was confirmed by their alignment to cattle genome sequence, 42 of which showed evidence of mRNA splicing. Analysis of the genomic context where NT genes reside revealed 61 to be in intergenic regions, whereas 30 are within introns of known genes. …”
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Decoding the role of m6A Regulators in identifying and characterizing molecular subtypes of rosacea by Shuping Zhang, Meng Wu, Wenbo Xue

“…N6-methyladenosine (m6A) modification is one of the most abundant epigenetic methylation modification in messenger RNA (mRNA) and non-coding RNA (ncRNA), plays a crucial role in RNA splicing, export, stability, and translation. In this study, we aimed to characterize m6A genes in rosacea, identify molecular subtypes based on m6A gene expression, characterize the immune features among subtypes, explore key molecules based on co-expression analysis, and identify potential targets and drugs. …”
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TDP-43 Epigenetic Facets and Their Neurodegenerative Implications by Juliette Gimenez, Alida Spalloni, Sara Cappelli, Francesca Ciaiola, Valerio Orlando, Emanuele Buratti, Patrizia Longone

“…Until a few years ago, the research emphasis has been focused particularly on the impacts of this aggregation and/or on its widely described role in complex RNA splicing, whether related to loss- or gain-of-function mechanisms. …”
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Comprehensive analysis of COMMD10 as a novel prognostic biomarker for gastric cancer by Wenfang Zhao, Jiahui Lin, Sha Cheng, Huan Li, Yufeng Shu, Canxia Xu

“…Functional enrichment of COMMD10-related genes was mainly involved in biological processes such as RNA localization, RNA splicing, RNA transport, mRNA surveillance pathways, and spliceosomes. …”
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