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Results 11 to 20 of about 2,990,182 (255)

Systematic Analysis of Splice-Site-Creating Mutations in Cancer [PDF]

Cell Reports, 2018
Summary: For the past decade, cancer genomic studies have focused on mutations leading to splice-site disruption, overlooking those having splice-creating potential. Here, we applied a bioinformatic tool, MiSplice, for the large-scale discovery of splice-
Reyka G. Jayasinghe +750 more
doaj +6 more sources

Multiple tandem splicing silencer elements suppress aberrant splicing within the long exon 26 of the human Apolipoprotein B gene. [PDF]

, 2013
: BACKGROUND: Apolipoprotein B (APOB) is an integral component of the chylomicron and the atherogenic lipoproteins LDL and Lp(a). Exon 26 of the APOB pre-mRNA is unusually long at 7,572 nt and is constitutively spliced.
Srirangalingam, U +5 more
core +1 more source

Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]

Open Biology, 2018
Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes, IFT81 (fla9) and IFT121 (ift121-2), which ...
Huawen Lin +3 more
doaj +1 more source

A trio of unique alternative splicing patterns : the splicing of tandem NAGNAG acceptors, transcription-start-site-dependent and mutually dependent cassette exons [PDF]

, 2008
With the rapid increase in the volume of genomic and transcript data in mouse and human, a diverse set of alternative splicing patterns can be discovered.
Chern, Tzu-Ming
core +1 more source

agi-lab/SPLICE: SPLICE v1.1.0

, 2022
New features Adds generate_data function (experimental) for the convenience of users who wish to generate (claims/payments/incurred) datasets of varying levels of complexity.
Melantha Wang
core +1 more source

A genetic screen in Arabidopsis reveals the identical roles for RBP45d and PRP39a in 5’ cryptic splice site selection

Frontiers in Plant Science, 2022
Cryptic splice sites in eukaryotic genome are generally dormant unless activated by mutation of authentic splice sites or related splicing factors. How cryptic splice sites are used remains unclear in plants.
Weihua Huang +7 more
doaj +1 more source

A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements [PDF]

, 2010
Background: polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of ...
Churbanov, Alexander +8 more
core +1 more source

Mutations in the Caenorhabditis elegans U2AF large subunit UAF-1 alter the choice of a 3' splice site in vivo. [PDF]

PLoS Genetics, 2009
The removal of introns from eukaryotic RNA transcripts requires the activities of five multi-component ribonucleoprotein complexes and numerous associated proteins.
Long Ma, H Robert Horvitz
doaj +1 more source

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 +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 +5 more
doaj +1 more source

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