Results 11 to 20 of about 395,684 (337)
A framework for individualized splice-switching oligonucleotide therapy
Nature, 2023 Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of individuals with genetic diseases^ 1 , but the systematic identification of such individuals remains a challenge.
Jinkuk Kim +28 more
semanticscholar +1 more source
Spliced leader trans-splicing [PDF]
Current Biology, 2006 What is spliced leader (SL) trans-splicing? It is an mRNA maturation process, similar to intron splicing, which has been shown to occur in a limited number of eukaryotes. In SL trans-splicing, the cell replaces nucleotides at the 5′ end of some pre-mRNAs with those of a special class of small nuclear RNAs, called SL RNAs. These are short molecules with
Stover, Nicholas A. +2 more
openaire +2 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Frontotemporal dementia (FTD) has genetic heterogeneity, and the endosomal ESCRTIII‐complex subunit CHMP2B variant is a rare cause of FTD. The mutations in CHMP2B were first identified in a large Danish pedigree with autosomal dominant FTD ...
Chang Li +6 more
doaj +1 more source
Splice site proximity influences alternative exon definition
RNA Biology, 2022 Alternative splicing enables higher eukaryotes to expand mRNA diversity from a finite number of genes through highly combinatorial splice site selection mechanisms that are influenced by the sequence of competing splice sites, cis-regulatory elements ...
Francisco Carranza +2 more
doaj +1 more source
Genome Medicine, 2020 Whole exome sequencing has been increasingly used in human disease studies. Prioritization based on appropriate functional annotations has been used as an indispensable step to select candidate variants.
Xiaoming Liu +4 more
semanticscholar +1 more source
HIV-1: To Splice or Not to Splice, That Is the Question
Viruses, 2021 The transcription of the HIV-1 provirus results in only one type of transcript—full length genomic RNA. To make the mRNA transcripts for the accessory proteins Tat and Rev, the genomic RNA must completely splice.
A. Emery, R. Swanstrom
semanticscholar +1 more source
Cell, 2005 Newly synthesized transcripts are usually spliced during transcription or immediately thereafter. So pre-mRNA splicing has been presumed to occur exclusively in the cell nucleus. In this issue of Cell, Denis et al. (2005) now report the presence of functional spliceosomes and signal-dependent pre-mRNA splicing in the cytoplasm of platelets.
Meshorer, Eran, Misteli, Tom
openaire +2 more sources
Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals. [PDF]
PLoS Genetics, 2006 Splice site selection is a key element of pre-mRNA splicing. Although it is known to involve specific recognition of short consensus sequences by the splicing machinery, the mechanisms by which 5' splice sites are accurately identified remain ...
Keren Borensztajn +5 more
doaj +1 more source
Computational and Structural Biotechnology Journal, 2021 Codon degeneracy of amino acid sequences permits an additional “mRNP code” layer underlying the genetic code that is related to RNA processing. In pre-mRNA splicing, splice site usage is determined by both intrinsic strength and sequence context ...
Johannes Ptok +6 more
doaj +1 more source
On the Additively Weighted Harary Index of Some Composite Graphs
Mathematics, 2017 The Harary index is defined as the sum of reciprocals of distances between all pairs of vertices of a connected graph. The additively weighted Harary index H A ( G ) is a modification of the Harary index in which the contributions of vertex ...
Behrooz Khosravi, Elnaz Ramezani
doaj +1 more source