GoT-Splice protocol for multi-omics profiling of gene expression, cell-surface proteins, mutational status, and RNA splicing in human cells by Saravanan Ganesan, Mariela Cortés-López, Ariel D. Swett, Xiaoguang Dai, Scott Hickey, Paulina Chamely, Allegra G. Hawkins, Sissel Juul, Dan A. Landau, Federico Gaiti

“…Summary: Studying RNA splicing factor mutations is challenging due to difficulties in distinguishing wild-type and mutant cells within complex human tissues and inaccuracies associated with reconstructing splicing signals from short-read sequencing data. …”
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Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations by Liliya Nazlamova, Suly Saray Villa Vasquez, Jenny Lord, Varshini Karthik, Man-Kim Cheung, Jörn Lakowski, Gabrielle Wheway

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Insights into the Mechanism of Pre-mRNA Splicing of Tiny Introns from the Genome of a Giant Ciliate <i>Stentor coeruleus</i> by Jirayu Nuadthaisong, Tanaporn Phetruen, Chanakan Techawisutthinan, Sittinan Chanarat

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Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance by Elisa Gelli, Mara Colombo, Anna Maria Pinto, Giovanna De Vecchi, Claudia Foglia, Sara Amitrano, Valeria Morbidoni, Valentina Imperatore, Siranoush Manoukian, Margherita Baldassarri, Caterina Lo Rizzo, Lorenza Catania, Elisa Frullanti, Enrico Tagliafico, Laura Cortesi, Federica Spaggiari, Maria Antonietta Mencarelli, Eva Trevisson, Paolo Radice, Alessandra Renieri, Francesca Ariani

“…Many VUS potentially affect mRNA splicing, making transcript analysis an essential step for the definition of their pathogenicity. …”
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TabZIP74 Acts as a Positive Regulator in Wheat Stripe Rust Resistance and Involves Root Development by mRNA Splicing by Fengtao Wang, Ruiming Lin, Yuanyuan Li, Pei Wang, Pei Wang, Jing Feng, Wanquan Chen, Shichang Xu

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CD47-Dependent Regulation of Immune Checkpoint Gene Expression and MYCN mRNA Splicing in Murine CD8 and Jurkat T Cells by Sukhbir Kaur, Duha Awad, Richard P. Finney, Thomas J. Meyer, Satya P. Singh, Margaret C. Cam, Baktiar O. Karim, Andrew C. Warner, David D. Roberts

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De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing by Yang Wang, Lan Huang, Yao Zhu, Xizhou An, Jiacheng Li, Jiangwei Zhen, Jie Yu

“…We constructed matched wild-type and mutant-type minigene plasmid of ANK1 based on HEK293T cells to address the effects of variants on mRNA splicing. Results The c.1305 + 2 T > A (family1) and c.1305 + 2del (family2) variants were detected in the ANK1 gene. …”
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The Associations between RNA Splicing Complex Gene SF3A1 Polymorphisms and Colorectal Cancer Risk in a Chinese Population. by Xiaohua Chen, Hua Du, Binjian Liu, Li Zou, Wei Chen, Yang Yang, Ying Zhu, Yajie Gong, Jianbo Tian, Feng Li, Shan Zhong

“…Aberrant alternative splicing included alterations in components of the mRNA splicing machinery often occurred in colon cancer. …”
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Loss of ESRP2 Activates TAK1‐MAPK Signaling through the Fetal RNA‐Splicing Program to Promote Hepatocellular Carcinoma Progression by Qian Yan, Xiaona Fang, Xiaoxia Liu, Sai Guo, Siqi Chen, Min Luo, Ping Lan, Xin‐Yuan Guan

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Accelerated RNA splicing dynamics during erythroid differentiation amplify mis-splicing in SF3B1-mutant MDS-RS by Mead, A, Moura, P, Mortera-Blanco, T, Hofman, I, Todisco, G, Kretzschmar, W, Bjorklund, A-C, Creignou, M, Hagemann-Jensen, M, Ziegenhain, C, Granados, D, Barbosa, I, Walldin, G, Jansson, M, Lundin, V, Dimitriou, M, Yoshizato, T, Woll, P, Ogawa, S, Sandberg, R, Jacobsen, SE, Hellstrom-Lindberg, E

Aspartyl-tRNA synthetase 2 orchestrates iron-sulfur metabolism in hematopoietic stem cells via fine-tuning alternative RNA splicing by Xuan Gu, Kailing Li, Meng Zhang, Yandan Chen, Jingchao Zhou, Chunxu Yao, Yong Zang, Jiefeng He, Jun Wan, Bin Guo

“…Our study reveals that Dars2 plays a crucial role in the iron-sulfur metabolism and maintenance of HSPCs by modulating RNA splicing.…”
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The <i>CDH1</i> c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing by Rita Barbosa-Matos, Rafaela Leal Silva, Luzia Garrido, Ana Cerqueira Aguiar, José Garcia-Pelaez, Ana André, Susana Seixas, Sónia Passos Sousa, Luísa Ferro, Lúcia Vilarinho, Irene Gullo, Vitor Devezas, Renata Oliveira, Susana Fernandes, Susy Cabral Costa, André Magalhães, Manuela Baptista, Fátima Carneiro, Hugo Pinheiro, Sérgio Castedo, Carla Oliveira

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Alternative Pre-mRNA Splicing of the Mu Opioid Receptor Gene, <i>OPRM1</i>: Insight into Complex Mu Opioid Actions by Shan Liu, Wen-Jia Kang, Anna Abrimian, Jin Xu, Luca Cartegni, Susruta Majumdar, Patrick Hesketh, Alex Bekker, Ying-Xian Pan

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A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing by Qiongling Peng, Yan Zhang, Binqiang Xian, Lianying Wu, Lianying Wu, Jianying Ding, Wuwu Ding, Xin Zhang, Bilan Ding, Ding Li, Jin Wu, Xiaowu Hu, Guanting Lu, Guanting Lu

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A Novel Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application by Anhai Chen, Jie Ling, Xin Peng, Xianlin Liu, Shuang Mao, Yongjia Chen, Mengyao Qin, Shuai Zhang, Yijiang Bai, Jian Song, Zhili Feng, Lu Ma, Dinghua He, Lingyun Mei, Chufeng He, Yong Feng

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Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa by Brocher Jan, Yin Jun, Fischer Utz, Winkler Christoph

“…Mutations in pre-mRNA splicing factors including PRPF31 have been identified as cause for RP, raising the question how mutations in general factors lead to tissue specific defects.…”
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RBM20-Mediated Pre-mRNA Splicing Has Muscle-Specificity and Differential Hormonal Responses between Muscles and in Muscle Cell Cultures by Rexiati Maimaiti, Chaoqun Zhu, Yanghai Zhang, Qiyue Ding, Wei Guo

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Somatic Mutation of SF3B1, a Gene Encoding a Core Component of RNA Splicing Machinery, in Myelodysplasia with Ring Sideroblasts by Malcovati, L, Papaemmanuil, E, Hellstrom-Lindberg, E, Boultwood, J, Bowen, D, Vyas, P, Pascutto, C, Della Porta, MG, Pellagatti, A, Groves, M, Godfrey, A, Ambaglio, I, Galli, A, Travaglino, E, Conte, S, Tauro, S, Keenan, N, Hyslop, A, Hinton, J, Mudie, L, Passerini, C, Cross, N, Wainscoat, J, Green, A, Futreal, P

The adenovirus L4-22K protein regulates transcription and RNA splicing via a sequence-specific single-stranded RNA binding by Lan, S, Kamel, W, Punga, T, Akusjärvi, G

Proteogenomics Reveals Orthologous Alternatively Spliced Proteoforms in the Same Human and Mouse Brain Regions with Differential Abundance in an Alzheimer’s Disease Mouse Model by Esdras Matheus Gomes da Silva, Letícia Graziela Costa Santos, Flávia Santiago de Oliveira, Flávia Cristina de Paula Freitas, Vinícius da Silva Coutinho Parreira, Hellen Geremias dos Santos, Raphael Tavares, Paulo Costa Carvalho, Ana Gisele da Costa Neves-Ferreira, Andrea Siqueira Haibara, Patrícia Savio de Araujo-Souza, Adriana Abalen Martins Dias, Fabio Passetti

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