Zobrazeno 1 - 10
of 3 764
pro vyhledávání: '"pre-mRNA"'
Publikováno v:
Guoji Yanke Zazhi, Vol 24, Iss 12, Pp 1932-1938 (2024)
Splicing factors(SFs)are a type of protein that serves as an integral component of the dynamic spliceosome complex. The spliceosome, similar to “scissors”, has the ability to accurately process precursor RNA(pre-mRNA)in eukaryotes and generate a
Externí odkaz:
https://doaj.org/article/825b90e120104314a2b399a8396d0fc9
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
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Alternative polyadenylation (APA) is a crucial mechanism for regulating gene expression during pre-mRNA 3′ processing. Pre-mRNA 3′ end processing factors is the main factor involved in this process. However, pre-mRNA 3′ end processing
Externí odkaz:
https://doaj.org/article/e382c6664d574a5ea80e00f6c22b410c
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
Publikováno v:
Clinical and Translational Medicine, Vol 14, Iss 9, Pp n/a-n/a (2024)
Abstract Background Alternative splicing of pre‐mRNA is a fundamental regulatory process in multicellular eukaryotes, significantly contributing to the diversification of the human proteome. RNA‐binding fox‐1 homologue 2 (RBFOX2), a member of t
Externí odkaz:
https://doaj.org/article/569acc94f07f4c868e665d0e56d13b4f
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
Autor:
Fengjiao Pan, Ruixiao Zhang, Xuyan Liu, Xiaomeng Shi, Qing Xin, Dan Qiao, Changying Li, Yan Zhang, Mengke Chen, Wencong Guo, Shufang Luan, Leping Shao
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level. However, growing evi
Externí odkaz:
https://doaj.org/article/645763076f2b49b2a0327a68bc254522
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