Results 11 to 20 of about 64,882 (210)

SNRPB promotes gastric cancer progression by regulating aberrant splicing of PUF60 [PDF]

Cell Death and Disease
Alternative splicing is a pivotal regulatory mechanism in cellular biology that critically influences the tumorigenesis, progression, and phenotypic diversity of cancer.
Dan Xiang, Jiaxin Yang, Miaofang Xiao, Cong Long, Yangxuan Lin, Chenchen Mao, Xin Liu, Dianfeng Mei, Wangkai Xie, Zheng Han, Chenbin Chen, Xiaoming Lin, Xian Shen, Xiangyang Xue, Tanzhou Chen   +14 more
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Aberrant Splicing Signatures Underpin Oligodendrocyte Damage in ALS and Neuron Loss in FTD [PDF]

Advanced Science
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two severe diseases sharing similar genetic, pathological, and clinical features, including TDP‐43 pathology.
Chen Du, Yinming Li, Rong Wu, Yufei Shen, Jiayi Yang, Xuan Xiao, Yu Zhou   +6 more
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saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval [PDF]

Genome Biology
RNA-seq data analysis relies on many different tools, each tailored to specific applications and coming with unique assumptions and limitations. Indeed, tools for differential transcript usage or rare disease diagnosis through splicing and expression ...
Alexandre Segers, Jeroen Gilis, Mattias Van Heetvelde, Davide Risso, Elfride De Baere, Lieven Clement   +5 more
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Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders [PDF]

Experimental and Molecular Medicine
Effective translation of rare disease diagnosis knowledge into therapeutic applications is achievable within a reasonable timeframe; where mutations are amenable to current antisense oligonucleotide technology.
Htoo A. Wai, Eliska Svobodova, Natalia Romero Herrera, Andrew G. L. Douglas, John W. Holloway, Francisco E. Baralle, Marco Baralle, Diana Baralle   +7 more
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Aberrant Bcl-x splicing in cancer: from molecular mechanism to therapeutic modulation

Journal of Experimental & Clinical Cancer Research, 2021
Bcl-x pre-mRNA splicing serves as a typical example to study the impact of alternative splicing in the modulation of cell death. Dysregulation of Bcl-x apoptotic isoforms caused by precarious equilibrium splicing is implicated in genesis and development ...
Zhihui Dou, Dapeng Zhao, Xiaohua Chen, Caipeng Xu, Xiaodong Jin, Xuetian Zhang, Yupei Wang, Xiaodong Xie, Qiang Li, Cuixia Di, Hong Zhang   +10 more
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Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease

Frontiers in Immunology, 2021
Alternative splicing (AS) is a complex coordinated transcriptional regulatory mechanism. It affects nearly 95% of all protein-coding genes and occurs in nearly all human organs.
Pingping Ren, Pingping Ren, Pingping Ren, Luying Lu, Luying Lu, Luying Lu, Shasha Cai, Shasha Cai, Jianghua Chen, Jianghua Chen, Jianghua Chen, Weiqiang Lin, Weiqiang Lin, Weiqiang Lin, Weiqiang Lin, Fei Han, Fei Han, Fei Han   +17 more
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Novel approach for the detection of the vestiges of testicular mRNA splicing errors in mature spermatozoa of Japanese Black bulls.

PLoS ONE, 2013
There is a serious problem with the reduction of male reproductive performance of the livestock in the world. We have a hypothesis that the splicing error-caused derivation of aberrant sperm motility-related proteins may be one of its causal factors.
Taichi Noda, Mitsuhiro Sakase, Moriyuki Fukushima, Hiroshi Harayama   +3 more
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Aberrant Alternative Splicing Is Another Hallmark of Cancer

International Journal of Cell Biology, 2013
The vast majority of human genes are alternatively spliced. Not surprisingly, aberrant alternative splicing is increasingly linked to cancer. Splice isoforms often encode proteins that have distinct and even antagonistic properties.
Michael Ladomery
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MicroRNA and Alternative mRNA Splicing Events in Cancer Drug Response/Resistance: Potent Therapeutic Targets

Biomedicines, 2021
Cancer is a multifaceted disease that involves several molecular mechanisms including changes in gene expression. Two important processes altered in cancer that lead to changes in gene expression include altered microRNA (miRNA) expression and aberrant ...
Rahaba Marima, Flavia Zita Francies, Rodney Hull, Thulo Molefi, Meryl Oyomno, Richard Khanyile, Sikhumbuzo Mbatha, Mzubanzi Mabongo, David Owen Bates, Zodwa Dlamini   +9 more
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Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing

Nature Communications, 2022
Wiskott-Aldrich syndrome is caused by mutations in WASP, but the underlying mechanisms remain to be explored. Here the authors reveal that WASP deficiency results in aberrant RNA splicing, and that WASP regulates the transcription of splicing factor ...
Baolei Yuan, Xuan Zhou, Keiichiro Suzuki, Gerardo Ramos-Mandujano, Mengge Wang, Muhammad Tehseen, Lorena V. Cortés-Medina, James J. Moresco, Sarah Dunn, Reyna Hernandez-Benitez, Tomoaki Hishida, Na Young Kim, Manal M. Andijani, Chongwei Bi, Manching Ku, Yuta Takahashi, Jinna Xu, Jinsong Qiu, Ling Huang, Christopher Benner, Emi Aizawa, Jing Qu, Guang-Hui Liu, Zhongwei Li, Fei Yi, Yanal Ghosheh, Changwei Shao, Maxim Shokhirev, Patrizia Comoli, Francesco Frassoni, John R. Yates, Xiang-Dong Fu, Concepcion Rodriguez Esteban, Samir Hamdan, Mo Li, Juan Carlos Izpisua Belmonte   +35 more
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