The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant. by Yue Wang, Peimin Yu, Guoxing Zhu, Xunyi Wu, Ding Ding, Zhen Hong

“…Despite having the same gene variant, different family members had different mRNA splicing, possibly causing different phenotypes.<h4>Conclusion</h4>The clinical features of FFEVF varied, and auxiliary inspection was atypical. …”
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MicroRNAs in Medicinal Plants by Mingyang Sun, Shiqiang Xu, Yu Mei, Jingyu Li, Yan Gu, Wenting Zhang, Jihua Wang

“…Biosynthetic research has shown that the mature miRNAs in medicinal plants can be produced from either the standard messenger RNA splicing mechanism or the pre-ribosomal RNA splicing process. …”
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USP39 stabilizes β-catenin by deubiquitination and suppressing E3 ligase TRIM26 pre-mRNA maturation to promote HCC progression by Weiwei Wang, Yongbin Lei, Gongye Zhang, Xiaomei Li, Jiahui Yuan, Tingting Li, Wei Zhong, Yuqi Zhang, Xuemei Tan, Gang Song

“…Abstract Ubiquitin-specific protease 39(USP39) plays an important role in modulating pre-mRNA splicing and ubiquitin-proteasome dependent proteolysis as a member of conserved deubiquitylation family. …”
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The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant by Yue Wang, Peimin Yu, Guoxing Zhu, Xunyi Wu, Ding Ding, Zhen Hong

“…Despite having the same gene variant, different family members had different mRNA splicing, possibly causing different phenotypes. …”
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Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant by Yeqing Yuan, Qiaoli Zhou, Chunli Wang, Wei Zhou, Wei Gu, Bixia Zheng

“…The effects of variants on mRNA splicing were analyzed through transcript analysis in vivo and minigene splice assay in vitro.ResultsThe proband mainly showed short stature, special facial features, cataract, hernias, and serious sleep apnea syndrome. …”
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Regulation of tumorigenic splicing by protein condensates with specific biophysical properties by Wei Li, Hao Jiang

“…We recently discovered that A-kinase anchoring protein 8 (AKAP8, also known as AKAP95), a RNA splicing regulator, supports tumorigenesis by forming liquid-like condensates, and that perturbing the biophysical properties of the condensates impairs its activity in regulating splicing and tumorigenesis.…”
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The 2-oxoglutarate-dependent oxygenase JMJD6 catalyses oxidation of lysine residues to give 5S-hydroxylysine residues. by Mantri, M, Loik, N, Hamed, R, Claridge, T, McCullagh, J, Schofield, C

“…Amino acid analyses reveal that JMJD6-catalysed hydroxylation of RNA-splicing regulatory protein fragments occurs to give hydroxylysine products with 5S stereochemistry. …”

The emerging roles of protein arginine methyltransferases in antiviral innate immune signaling pathways by Hui Nie, Qingchao Li, Wei Pan

“…The Protein Arginine Methyltransferases (PRMTs) family is involved in various biological processes, including gene transcription, pre-mRNA splicing, mRNA translation, and protein stability. …”
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Is good housekeeping the key to motor neuron survival? by Talbot, K, Davies, K

“…Spinal muscular atrophy (SMA) is caused by a drastic reduction in the ubiquitously expressed SMN protein, which is critical for the correct assembly of the snRNP complexes required for RNA splicing. However, it is unclear why loss of SMN and altered snRNP assembly only seem to affect motor neurons. …”

Efficient Modulation of Exon Skipping via Antisense Circular RNAs by Shuaiwei Ren, Mei Huang, Raoxian Bai, Lijiao Chen, Jiao Yang, Junyu Zhang, Wenting Guo, Weizhi Ji, Yongchang Chen

“…In conclusion, we develop an alternative method for regulating RNA splicing, which might be served as a novel tool for genetic disease treatment.…”
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Limited Proteolysis-Coupled Mass Spectrometry Identifies Phosphatidylinositol 4,5-Bisphosphate Effectors in Human Nuclear Proteome by Martin Sztacho, Barbora Šalovská, Jakub Červenka, Can Balaban, Peter Hoboth, Pavel Hozák

“…‘Hidden’ proteins are linked to the gene expression, RNA splicing and transport, cell cycle regulation, and response to heat or viral infection. …”
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The functional insight into the genetics of cardiovascular disease: results from the post-GWAS study by L. O. Bryzgalov, E. E. Korbolina, I. S. Damarov, T. I. Merkulova

“…A significant impact on binding sites of thirteen TFs including those involved in blood cells formation, hematopoiesis, macrophage function, inflammation, and vasoconstriction was found in K562 cells. 21 rSNP gene targets and 5 partners predicted by PPI were enriched for spliceosome and endocytosis KEGG pathways, endosome sorting complex and mRNA splicing REACTOME pathways. Related Gene Ontology terms included mRNA splicing and processing, endosome transport and protein catabolic processes. …”
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Human Cancer-Associated Mutations of SF3B1 Lead to a Splicing Modification of Its Own RNA by Tiffany Bergot, Eric Lippert, Nathalie Douet-Guilbert, Séverine Commet, Laurent Corcos, Delphine G. Bernard

“…Deregulation of pre-mRNA splicing is observed in many cancers and hematological malignancies. …”
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DNA & RNA Biology / by Pullen, Christopher, author 648640, Guillen, Burl, author 648659

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Gene augmentation prevents retinal degeneration in a CRISPR/Cas9-based mouse model of PRPF31 retinitis pigmentosa by Zhouhuan Xi, Abhishek Vats, José-Alain Sahel, Yuanyuan Chen, Leah C. Byrne

“…PRPF31-RP is a blinding disease, caused by insufficient levels of a pre-mRNA splicing factor. Here, the authors show that CRISPR-Cas9 editing of the Prpf31 gene in mice leads to retinal degeneration similar to human patients, and, in the same model, demonstrate benefits from PRPF31 gene therapy.…”
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Recognition of the pyrimidine-tract of the pre-mRNA by U2AF and a novel splicing factor PUF60 by McCaw, Patrick Schonleber, 1964-

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SRSF5‐Mediated Alternative Splicing of M Gene is Essential for Influenza A Virus Replication: A Host‐Directed Target Against Influenza Virus by Qiuchen Li, Zhimin Jiang, Shuning Ren, Hui Guo, Zhimin Song, Saini Chen, Xintao Gao, Fanfeng Meng, Junda Zhu, Litao Liu, Qi Tong, Honglei Sun, Yipeng Sun, Juan Pu, Kin‐Chow Chang, Jinhua Liu

“…In conclusion, SRSF5 as an activator of M mRNA splicing promotes IAV replication and is a host‐derived antiviral target.…”
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Exon tethering in transcription by RNA polymerase II. by Dye, M, Gromak, N, Proudfoot, N

“…This observation suggests that for some genes a continuous intron transcript is not required for pre-mRNA splicing in vivo.…”

Regulation of expression of human RNA polymerase II-transcribed snRNA genes by Guiro, J, Murphy, S

“…In addition to protein-coding genes, RNA polymerase II (pol II) transcribes numerous genes for non-coding RNAs, including the small-nuclear (sn)RNA genes. snRNAs are an important class of non-coding RNAs, several of which are involved in pre-mRNA splicing. The molecular mechanisms underlying expression of human pol II-transcribed snRNA genes are less well characterized than for protein-coding genes and there are important differences in expression of these two gene types. …”

Targeting RNA to treat neuromuscular disease. by Muntoni, F, Wood, M

“…In particular, the use of antisense oligonucleotides, which are designed to target RNA and modulate pre-mRNA splicing to restore functional protein isoforms or directly inhibit the toxic effects of pathogenic RNAs, offers great promise and these approaches are now being tested in the clinic. …”