Developing ABEmax-NG with Precise Targeting and Expanded Editing Scope to Model Pathogenic Splice Site Mutations In Vivo
Sign Up to like & getrecommendations! Published in 2019 at "iScience"
DOI: 10.1016/j.isci.2019.05.008
Abstract: Summary RNA splicing is related to many human diseases; however, lack of efficient genetic approaches to modulate splicing has prevented us from dissecting their functions in human diseases. Recently developed base editors (BEs) offer a… read more here.
Keywords: splice; developing abemax; scope; abemax precise ... See more keywords
GTFtools: a software package for analyzing various features of gene models
Sign Up to like & getrecommendations! Published in 2022 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btac561
Abstract: MOTIVATION Gene-centric bioinformatics studies frequently involve calculation or extraction of various features of genes such as splice sites, promoters, independent introns, and untranslated regions (UTRs) through manipulation of gene models. Gene models are often annotated… read more here.
Keywords: software; gene models; package; various features ... See more keywords
Histone H1.5 binds over splice sites in chromatin and regulates alternative splicing
Sign Up to like & getrecommendations! Published in 2019 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkz338
Abstract: Abstract Chromatin organization and epigenetic markers influence splicing, though the magnitudes of these effects and the mechanisms are largely unknown. Here, we demonstrate that linker histone H1.5 influences mRNA splicing. We observed that linker histone… read more here.
Keywords: binds splice; histone binds; histone; splice sites ... See more keywords
Abstract 467: Identification of Novel Pathogenic Mutations in Non-Canonical RNA Splice Sites in Congenital Heart Disease
Sign Up to like & getrecommendations! Published in 2019 at "Circulation Research"
DOI: 10.1161/res.125.suppl_1.467
Abstract: Rationale: Congenital heart disease (CHD) occurs in about 1 in 100 live births, yet known genetic causes explain less than 20% of CHD cases. While variants that cause frameshift, nonsense, start/stop site gain or loss,… read more here.
Keywords: splice; rna; rna splice; non canonical ... See more keywords
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0853-4
Abstract: BackgroundRecessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead to multinodular… read more here.
Keywords: regions splice; splice sites; mutations affecting; coding regions ... See more keywords
Consideration of non-canonical splice sites improves gene prediction on the Arabidopsis thaliana Niederzenz-1 genome sequence
Sign Up to like & getrecommendations! Published in 2017 at "BMC Research Notes"
DOI: 10.1186/s13104-017-2985-y
Abstract: ObjectiveThe Arabidopsis thaliana Niederzenz-1 genome sequence was recently published with an ab initio gene prediction. In depth analysis of the predicted gene set revealed some errors involving genes with non-canonical splice sites in their introns.… read more here.
Keywords: non canonical; canonical splice; splice sites; gene ... See more keywords
An extended catalogue of tandem alternative splice sites in human tissue transcriptomes
Sign Up to like & getrecommendations! Published in 2021 at "PLoS Computational Biology"
DOI: 10.1371/journal.pcbi.1008329
Abstract: Tandem alternative splice sites (TASS) is a special class of alternative splicing events that are characterized by a close tandem arrangement of splice sites. Most TASS lack functional characterization and are believed to arise from… read more here.
Keywords: splice; tissue specific; tissue; tandem alternative ... See more keywords
Assessing the impacts of various factors on circular RNA reliability
Sign Up to like & getrecommendations! Published in 2023 at "Life Science Alliance"
DOI: 10.26508/lsa.202201793
Abstract: This study systematically assesses the impacts of numerous factors related to circRNA identification, conservation, biogenesis, and function on circRNA reliability, providing a useful guideline and an important resource for selecting high-confidence circRNAs for further investigations.… read more here.
Keywords: reliability; circrna reliability; donor acceptor; bsj donor ... See more keywords
Recursive splicing discovery using lariats in total RNA sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Life Science Alliance"
DOI: 10.26508/lsa.202201889
Abstract: Recursive splicing is a noncanonical splicing mechanism in which an intron is removed in segments via multiple splicing reactions. Relatively few recursive splice sites have been identified with high confidence in human introns, and more… read more here.
Keywords: splicing; recursive splicing; discovery using; recursive splice ... See more keywords
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.806946
Abstract: Understanding pre-mRNA splicing is crucial to accurately diagnosing and treating genetic diseases. However, mutations that alter splicing can exert highly diverse effects. Of all the known types of splicing mutations, perhaps the rarest and most… read more here.
Keywords: splice events; splicing; splice; deep intronic ... See more keywords
Unique and Repeated Stwintrons (Spliceosomal Twin Introns) in the Hypoxylaceae
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Fungi"
DOI: 10.3390/jof8040397
Abstract: Introns are usually non-coding sequences interrupting open reading frames in pre-mRNAs [D1,2]. Stwintrons are nested spliceosomal introns, where an internal intron splits a second donor sequence into two consecutive splicing reactions leading to mature mRNA.… read more here.
Keywords: distal splice; splice sites; repeated stwintrons; unique repeated ... See more keywords