Zobrazeno 1 - 10
of 2 625
pro vyhledávání: '"pre-mrna splicing"'
Autor:
Yiyin Zhang, Ran Zhang, Xiaomeng Shi, Xuyan Liu, Changying Li, Yan Zhang, Zhi Wang, Dan Qiao, Fengjiao Pan, Bingying Zhang, Ning Xu, Bingzi Dong, Leping Shao
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-6 (2024)
Abstract Background Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease. Our goal is to analyze int
Externí odkaz:
https://doaj.org/article/d4c46e355609496a986f5d68753b59b9
Autor:
Guangyan Yang, Jiaqing Xiang, Xiaoxiao Yang, Xiaomai Liu, Yanchun Li, Lixing Li, Lin Kang, Zhen Liang, Shu Yang
Publikováno v:
eLife, Vol 13 (2024)
TGF-β stimulates CCN2 expression which in turn amplifies TGF-β signaling. This process promotes extracellular matrix production and accelerates the pathological progression of fibrotic diseases. Alternative splicing plays an important role in multi
Externí odkaz:
https://doaj.org/article/481cc4190c714201aaa47edeadcf4c29
Autor:
Alvin Sanjaya, Ryo Nishijima, Yuki Fujii, Makoto Asano, Kotaro Ishii, Yusuke Kazama, Tomoko Abe, Makoto T. Fujiwara
Publikováno v:
Frontiers in Plant Science, Vol 15 (2024)
Pre-mRNA splicing is a fundamental process in eukaryotic gene expression, and the mechanism of intron definition, involving the recognition of the canonical GU (5’-splice site) and AG (3’-splice site) dinucleotides by splicing factors, has been p
Externí odkaz:
https://doaj.org/article/62513eeb4e4e4d34920875f490ab07c1
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
IntroductionThe U1 small nuclear RNA (snRNA) forms ribonucleoprotein particles (RNPs) such as U1 snRNP and U1-TAF15 snRNP. U1 snRNP is one of the most studied RNPs due to its critical role in pre-mRNA splicing in defining the 5′ splice site (5′ss
Externí odkaz:
https://doaj.org/article/17dea3230bf44639aa28ffc0eda8c236
Autor:
Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao, Jian-Min Chen
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-23 (2024)
Abstract Background Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim to harness the well-e
Externí odkaz:
https://doaj.org/article/d02d19b436f74bb4b284a9c0563849d2
Publikováno v:
RNA Biology, Vol 20, Iss 1, Pp 525-538 (2023)
Precursor mRNA (pre-mRNA) splicing is an essential step in human gene expression and is carried out by a large macromolecular machine called the spliceosome. Given the spliceosome's role in shaping the cellular transcriptome, it is not surprising tha
Externí odkaz:
https://doaj.org/article/ffa85d3a02b74e05a7d837128a80011d
Publikováno v:
Heliyon, Vol 10, Iss 9, Pp e30438- (2024)
Neurodegeneration with brain iron accumulation (NBIA) is a clinically and genetically heterogeneous disease characterized by increased iron deposition in the basal ganglia and progressive degeneration of the nervous system in adulthood. However, in e
Externí odkaz:
https://doaj.org/article/d1455ff6d6124256991246c49e985713
Autor:
Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, Eva Richard, Lise Lolle Holm, Jesper Foged Havelund, Thomas Koed Doktor, Martin Røssel Larsen, Nils J. Færgeman, Lourdes Ruiz Desviat, Brage Storstein Andresen
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102101- (2024)
Pseudoexons are nonfunctional intronic sequences that can be activated by deep-intronic sequence variation. Activation increases pseudoexon inclusion in mRNA and interferes with normal gene expression. The PCCA c.1285-1416A>G variation activates a ps
Externí odkaz:
https://doaj.org/article/ff8b723093454117929845437197aef9
Publikováno v:
Cancer Cell International, Vol 23, Iss 1, Pp 1-18 (2023)
Abstract Alternative pre-mRNA splicing is a critical mechanism that generates multiple mRNA from a single gene, thereby increasing the diversity of the proteome. Recent research has highlighted the significance of specific splicing isoforms in cellul
Externí odkaz:
https://doaj.org/article/ebea55f7fa264153b61100dcb361e76f
Autor:
Xuyan Liu, Xiaomeng Shi, Qing Xin, Zhiying Liu, Fengjiao Pan, Dan Qiao, Mengke Chen, Yiyin Zhang, Wencong Guo, Changying Li, Yan Zhang, Leping Shao, Ruixiao Zhang
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 gene or PKD2 gene. There is increasing evidence that some of these variants, which are descri
Externí odkaz:
https://doaj.org/article/f5715f55bb2b42f5894b66d609e557c4