Characterization and prognostic value of mutations in exons 5 and 6 of the p53 gene in patients with colorectal cancers in central Iran [PDF]
, 2013 Background/Aims: We aimed to investigate the relation-ships among various mutations of the p53 gene and their protein products, histological characteristics, and disease prognosis of primary colorectal cancer in Isfahan, central Iran.
Anwar +46 more
core +1 more source
The Cancer Spliceome: Reprograming of Alternative Splicing in Cancer
Frontiers in Molecular Biosciences, 2018 Alternative splicing allows for the expression of multiple RNA and protein isoforms from one gene, making it a major contributor to transcriptome and proteome diversification in eukaryotes.
Ettaib El Marabti, Ihab Younis
doaj +1 more source
In Vivo Recognition of a Vertebrate Mini-Exon as an Exon-Intron-Exon Unit
Molecular and Cellular Biology, 1993 Very small vertebrate exons are problematic for RNA splicing because of the proximity of their 3' and 5' splice sites. In this study, we investigated the recognition of a constitutive 7-nucleotide mini-exon from the troponin I gene that resides quite close to the adjacent upstream exon.
D A, Sterner, S M, Berget
openaire +3 more sources
Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons [PDF]
, 2014 Alternative splicing—the production of multiple messenger RNA isoforms from a single gene—is regulated in part by RNA binding proteins. While the RBPs transformer2 alpha (Tra2α) and Tra2β have both been implicated in the regulation of alternative ...
Austin, Caroline A. +19 more
core +2 more sources
The emergence of alternative 3' and 5' splice site exons from constitutive exons. [PDF]
PLoS Computational Biology, 2007 Alternative 3' and 5' splice site (ss) events constitute a significant part of all alternative splicing events. These events were also found to be related to several aberrant splicing diseases.
Eli Koren, Galit Lev-Maor, Gil Ast
doaj +1 more source
Reduced mutation rate in exons due to differential mismatch repair
Nature Genetics, 2017 While recent studies have identified higher than anticipated heterogeneity of mutation rate across genomic regions, mutations in exons and introns are assumed to be generated at the same rate.
J. Frigola +5 more
semanticscholar +1 more source
αCP binding to a cytosine-rich subset of polypyrimidine tracts drives a novel pathway of cassette exon splicing in the mammalian transcriptome. [PDF]
, 2016 Alternative splicing (AS) is a robust generator of mammalian transcriptome complexity. Splice site specification is controlled by interactions of cis-acting determinants on a transcript with specific RNA binding proteins.
Bahrami-Samani, Emad +7 more
core +1 more source
Arquivos de Neuro-Psiquiatria, 2007 Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of
Aline Andrade Freund +5 more
doaj +1 more source
Skipping Multiple Exons to Treat DMD—Promises and Challenges
Biomedicines, 2018 Duchenne muscular dystrophy (DMD) is a lethal disorder caused by mutations in the DMD gene. Antisense-mediated exon-skipping is a promising therapeutic strategy that makes use of synthetic nucleic acids to skip frame-disrupting exon(s) and allows for ...
Tejal Aslesh, R. Maruyama, T. Yokota
semanticscholar +1 more source
De novo prediction of PTBP1 binding and splicing targets reveals unexpected features of its RNA recognition and function. [PDF]
, 2014 The splicing regulator Polypyrimidine Tract Binding Protein (PTBP1) has four RNA binding domains that each binds a short pyrimidine element, allowing recognition of diverse pyrimidine-rich sequences.
Black, Douglas L +5 more
core +4 more sources