Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis by Bixin Xi, Siying Liu, Yongbing Zhu, Dedong Zhang, Yu Zhang, Aiguo Liu

“…This study aimed to analyse a rare intronic inversion variant in the SPTB gene associated with HS, and explore the impact of the variant on SPTB mRNA splicing.Method: The clinical manifestations of the patient were summarised and analysed for spherocytosis phenotype diagnosis. …”
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Genome-Wide DNA Methylation Signatures Predict the Early Asymptomatic Doxorubicin-Induced Cardiotoxicity in Breast Cancer by Michael A. Bauer, Valentina K. Todorova, Annjanette Stone, Weleetka Carter, Matthew D. Plotkin, Ping-Ching Hsu, Jeanne Y. Wei, Joseph L. Su, Issam Makhoul

“…The pathway analysis found enrichment for regulation of transcription, mRNA splicing, pathways in cancer and ErbB2/4 signaling. …”
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Deficiency of the Ribosomal Protein uL5 Leads to Significant Rearrangements of the Transcriptional and Translational Landscapes in Mammalian Cells by Elena S. Babaylova, Alexander V. Gopanenko, Alexey E. Tupikin, Marsel R. Kabilov, Alexey A. Malygin, Galina G. Karpova

“…Transcriptionally up-regulated DEGs were mainly associated with rRNA processing, pre-mRNA splicing, translation and DNA repair, while down-regulated DEGs were genes of membrane proteins; the type of regulation depended on the GC content in the 3′ untranslated regions of DEG mRNAs. …”
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SRSF10 regulates proliferation of neural progenitor cells and affects neurogenesis in developing mouse neocortex by Junjie Li, Hanyang Jiang, Yawei Mu, Zixuan Wei, Ankangzhi Ma, Menghan Sun, Jingjing Zhao, Cuiqing Zhu, Xianhua Chen

“…Summary: Alternative pre-mRNA splicing plays critical roles in brain development. …”
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Pungency related gene network in Allium sativum L., response to sulfur treatments by Ali Ammarellou

“…Integration network of these genes revealed their involvement in various biological processes such as, RNA splicing, stress response, gene silencing by miRNAs, and epigenetic. …”
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Neuronal Pnn Deficiency Increases Oxidative Stress and Exacerbates Cerebral Ischemia/Reperfusion Injury in Mice by Shu-Yuan Hsu, Chih-Hung Chen, Sujira Mukda, Steve Leu

“…In the cerebrum and hippocampus with neuronal Pnn depletion, the expression of SRSF2, a mRNA splicing regulator, was increased, while the expression of SRSF1, a functional antagonist of SRSF2, was reduced. …”
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DNA Modifications: Function and Applications in Normal and Disease States by Vichithra R. B. Liyanage, Jessica S. Jarmasz, Nanditha Murugeshan, Marc R. Del Bigio, Mojgan Rastegar, James R. Davie

“…However, high resolution mapping of DNA methylation has revealed that 5mC is enriched in exonic nucleosomes and at intron-exon junctions, suggesting a role of DNA methylation in the relationship between elongation and RNA splicing. Recent studies have increased our knowledge of another modification of DNA, 5-hydroxymethylcytosine (5hmC), which is a product of the ten-eleven translocation (TET) proteins converting 5mC to 5hmC. …”
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Proteomic Analysis Implicates Dominant Alterations of RNA Metabolism and the Proteasome Pathway in the Cellular Response to Carbon-Ion Irradiation. by Yu Wang, Hua Guan, Da-Fei Xie, Yi Xie, Xiao-Dan Liu, Qi Wang, Li Sui, Man Song, Hong Zhang, Jianhua Zhou, Ping-Kun Zhou

“…Gene ontology (GO) analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis, Munich Information Center for Protein Sequences (MIPS) analysis, and BioCarta analysis all indicated that RNA metabolic processes (RNA splicing, destabilization and deadenylation) and proteasome pathways may play key roles in the cellular response to heavy-ion irradiation. …”
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In vivo shRNA screen reveals PRMT5 as a key regulator in glioblastoma by Stanciu, Monica

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Lessons from a rare disease by Dutchen, Stephanie Lynn

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DEGAS: de novo discovery of dysregulated pathways in human diseases by Ulitsky, Igor, Shamir, Ron, Krishnamurthy, Akshay, Karp, Richard M.

“…In Parkinson's disease, we provide novel evidence for involvement of mRNA splicing, cell proliferation, and the 14-3-3 complex in the disease progression. …”
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Alternative isoform regulation in myotonic dystrophy by Wang, Eric T. (Eric Tzy-shi)

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The cardiotonic steroid digitoxin regulates alternative splicing through depletion of the splicing factors SRSF3 and TRA2B by Anderson, Erik S., Lin, Chia-Ho, Xiao, Xinshu, Stoilov, Peter, Black, Douglas L., Burge, Christopher B

“…Modulation of alternative pre-mRNA splicing is a potential approach to therapeutic targeting for a variety of human diseases. …”
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Ronin/Hcf-1 binds to a hyperconserved enhancer element and regulates genes involved in the growth of embryonic stem cells by Dejosez, M., Frampton, Garrett M., Whyte, W. A., Stratton, S. A., Barton, Michelle C., Gunaratne, P. H., Zwaka, T. P., Levine, Stuart S., Young, Richard A.

“…The subset of genes bound by Ronin/Hcf-1 function primarily in transcription initiation, mRNA splicing, and cell metabolism; genes involved in cell signaling and cell development are conspicuously underrepresented in this target gene repertoire. …”
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Identification and experimental validation of splicing regulatory elements in Drosophila melanogaster reveals functionally conserved splicing enhancers in metazoans by Brooks, A. N., Aspden, J. L., Rio, D. C., Brenner, S. E., Podgornaia, Anna Igorevna

“…RNA sequence elements involved in the regulation of pre-mRNA splicing have previously been identified in vertebrate genomes by computational methods. …”
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Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides by Bennett, C. Frank, Roca, Xavier, Akerman, Martin, Gaus, Hans, Berdeja, Andrés, Krainer, Adrian R.

“…An established paradigm in pre-mRNA splicing is the recognition of the 5′ splice site (5′ss) by canonical base-pairing to the 5′ end of U1 small nuclear RNA (snRNA). …”
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Comprehensive splice-site analysis using comparative genomics by Sheth, Nihar, Roca, Xavier, Roeder, Ted, Sachidanandam, Ravi, Hastings, Michelle L., Krainer, Adrian R.

“…Our study proves that the identification of broad patterns in naturally-occurring splice sites, through the analysis of genomic datasets, provides mechanistic and evolutionary insights into pre-mRNA splicing.…”
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Erythroid differentiation enhances RNA mis-splicing in SF3B1-mutant myelodysplastic syndromes with ring sideroblasts by Moura, PL, Mortera Blanco, T, Hofman, IJ, Todisco, G, Kretzschmar, WW, Björklund, A-C, Creignou, M, Hagemann-Jensen, M, Ziegenhain, C, Cabrerizo Granados, D, Barbosa, I, Walldin, G, Jansson, M, Ashley, N, Mead, AJ, Lundin, V, Dimitriou, M, Yoshizato, T, Woll, PS, Ogawa, S, Sandberg, R, Jacobsen, S-EW, Hellström-Lindberg, E

“…Mis-splicing in <i>SF3B1</i>^mt cells was intensified by erythroid differentiation through accelerated RNA splicing and decreased NMD activity, and <i>SF3B1</i>^mt led to truncations in several MDS-implicated genes. …”

Transcriptome and proteomic analysis of mpox virus F3L-expressing cells by Yihao Wang, Yihao Wang, Yihao Wang, Junzhe Zhang, Junzhe Zhang, Junzhe Zhang, Mingzhi Li, Mingzhi Li, Mingzhi Li, Mengle Jia, Mengle Jia, Mengle Jia, Lingdi Yang, Lingdi Yang, Lingdi Yang, Ting Wang, Ting Wang, Ting Wang, Yu Wang, Yu Wang, Yu Wang, Lumei Kang, Lumei Kang, Lumei Kang, Meifeng Li, Meifeng Li, Meifeng Li, Lingbao Kong, Lingbao Kong, Lingbao Kong

“…F3L also increases the expression of the FOS and JNK genes while decreasing the expression of TNFR2, these factors may ultimately induce apoptosis. (2) F3 protein interacts with host proteins involved in RNA splicing and protein translation, such as SNRNP70, POLR2H, HNRNPA1, DDX17, etc. …”
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Zygotic Splicing Activation of the Transcriptome is a Crucial Aspect of Maternal‐to‐Zygotic Transition and Required for the Conversion from Totipotency to Pluripotency by Hua Zhang, Yang Wang, Zhe‐Wei Hu, Yun‐Wen Wu, Nuo Chen, Yi‐Min Zhu, Yuan‐Song Yu, Heng‐Yu Fan, Hua‐Nan Wang

“…As the underlying mechanism of RNA splicing, splicing factors undergo dramatic maternal‐to‐zygotic conversion. …”
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