Results 21 to 30 of about 143,230 (264)

USP39 promotes hepatocellular carcinogenesis through regulating alternative splicing in cooperation with SRSF6/HNRNPC

Cell Death and Disease, 2023
Abnormal alternative splicing (AS) caused by alterations in spliceosomal factors is implicated in cancers. Standard models posit that splice site selection is mainly determined by early spliceosomal U1 and U2 snRNPs. Whether and how other mid/late-acting
Jingyi Zheng, Shasha Wu, Mao Tang, Shaoyan Xi, Yanchen Wang, Jun Ren, Hao Luo, Pengchao Hu, Liangzhan Sun, Yuyang Du, Hui Yang, Fenfen Wang, Han Gao, Ziwei Dai, Xijun Ou, Yan Li   +15 more
doaj   +1 more source

The strength of the HIV-1 3' splice sites affects Rev function

Retrovirology, 2006
Background The HIV-1 Rev protein is a key component in the early to late switch in HIV-1 splicing from early intronless (e.g. tat, rev) to late intron-containing Rev-dependent (e.g. gag, vif, env) transcripts.
Kjems Jørgen, Hauber Ilona, Otte Marianne, Kammler Susanne, Hauber Joachim, Schaal Heiner   +5 more
doaj   +1 more source

EnsembleSplice: ensemble deep learning model for splice site prediction

BMC Bioinformatics, 2022
Background Identifying splice site regions is an important step in the genomic DNA sequencing pipelines of biomedical and pharmaceutical research. Within this research purview, efficient and accurate splice site detection is highly desirable, and a ...
Victor Akpokiro, Trevor Martin, Oluwatosin Oluwadare   +2 more
doaj   +1 more source

A computational survey of candidate exonic splicing enhancer motifs in the model plant Arabidopsis thaliana

BMC Bioinformatics, 2007
Background Algorithmic approaches to splice site prediction have relied mainly on the consensus patterns found at the boundaries between protein coding and non-coding regions.
Mount Stephen M, Pertea Mihaela, Salzberg Steven L   +2 more
doaj   +1 more source

Activation of cryptic splice sites in three patients with chronic granulomatous disease

Molecular Genetics & Genomic Medicine, 2019
Background Chronic granulomatous disease (CGD) is a primary immune deficiency caused by mutations in the genes encoding the structural components of the phagocyte NADPH oxidase.
Martin de Boer, Karin van Leeuwen, Mathias Hauri‐Hohl, Dirk Roos   +3 more
doaj   +1 more source

The 3' splice site of influenza A segment 7 mRNA can exist in two conformations: a pseudoknot and a hairpin.

PLoS ONE, 2012
The 3' splice site of influenza A segment 7 is used to produce mRNA for the M2 ion-channel protein, which is critical to the formation of viable influenza virions.
Walter N Moss, Lumbini I Dela-Moss, Elzbieta Kierzek, Ryszard Kierzek, Salvatore F Priore, Douglas H Turner   +5 more
doaj   +1 more source

Identification of alternative 5′/3′ splice sites based on the mechanism of splice site competition [PDF]

Nucleic Acids Research, 2006
Alternative splicing plays an important role in regulating gene expression. Currently, most efficient methods use expressed sequence tags or microarray analysis for large-scale detection of alternative splicing. However, it is difficult to detect all alternative splice events with them because of their inherent limitations.
Xia, Huiyu, Bi, Jianning, Li, Yanda
openaire   +2 more sources

An automated framework for evaluation of deep learning models for splice site predictions

Scientific Reports, 2023
A novel framework for the automated evaluation of various deep learning-based splice site detectors is presented. The framework eliminates time-consuming development and experimenting activities for different codebases, architectures, and configurations ...
Amin Zabardast, Elif Güney Tamer, Yeşim Aydın Son, Arif Yılmaz   +3 more
doaj   +1 more source

Role of the 3′ Splice Site in U12-Dependent Intron Splicing [PDF]

Molecular and Cellular Biology, 2001
U12-dependent introns containing alterations of the 3' splice site AC dinucleotide or alterations in the spacing between the branch site and the 3' splice site were examined for their effects on splice site selection in vivo and in vitro. Using an intron with a 5' splice site AU dinucleotide, any nucleotide could serve as the 3'-terminal nucleotide ...
R C, Dietrich, M J, Peris, A S, Seyboldt, R A, Padgett   +3 more
openaire   +2 more sources

Novel compound heterozygous mutations for lipoprotein lipase deficiency: a G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site mutation of intron 8

Journal of Lipid Research, 2001
We systematically investigated the molecular defects causing a primary LPL deficiency in a Japanese male infant (patient DI) with fasting hyperchylomicronemia (type I hyperlipoproteinemia) and in his parents.
Yasuyuki Ikeda, Atsuko Takagi, Yuusei Nakata, Yasuhiko Sera, Sumio Hyoudou, Kazuko Hamamoto, Yoshikazu Nishi, Akira Yamamoto   +7 more
doaj   +1 more source