5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24029
Abstract: In the human genome, most 5′ splice sites (~99%) employ the canonical GT dinucleotide whereas a small minority (~1%) use the noncanonical GC dinucleotide. The functionality and pathogenicity of 5′ splice site GT>GC (+2T>C) variants… read more here.
Keywords: splice; site variants; terms functionality; splice site ... See more keywords
A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1840
Abstract: BACKGROUND Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low-level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation. Five recent reports have… read more here.
Keywords: snptic exons; splice; phenotype correlations; snp ... See more keywords
A single-base change at a splice site in Wx-A1 caused incorrect RNA splicing and gene inactivation in a wheat EMS mutant line
Sign Up to like & getrecommendations! Published in 2019 at "Theoretical and Applied Genetics"
DOI: 10.1007/s00122-019-03340-1
Abstract: Key messageAn EMS-induced single-base mutation at a splice site caused abnormal RNA splicing and resulted in the gene inactivation and the lack of Wx-A1 protein in a wheat EMS mutant line.AbstractAn EMS-mutagenized population was generated… read more here.
Keywords: splice; wheat; rna; splice site ... See more keywords
Splice site identification in human genome using random forest
Sign Up to like & getrecommendations! Published in 2017 at "Health and Technology"
DOI: 10.1007/s12553-016-0157-z
Abstract: Gene identification has been an increasingly important task due to developments of Human Genome Project. Splice site prediction lies at the heart of identifying human genes, thus development of new methods which detect the splice… read more here.
Keywords: splice; svm; encoding methods; human genome ... See more keywords
Identification of splice variant of OsGBF1 in Oryza sativa ssp. indica genotypes under salinity stress
Sign Up to like & getrecommendations! Published in 2018 at "3 Biotech"
DOI: 10.1007/s13205-018-1370-4
Abstract: G-box-binding factors are plant transcription factors, involved in a wide range of biological processes including abiotic stress responses. In this study, we analyzed the expression of OsGBF1 during salt stress in two contrasting Oryza sativa… read more here.
Keywords: osgbf1; splice; induction stress; variant ... See more keywords
An Alternative Splice Variant of Chloride Intracellular Channel 5 Protein, (CLIC5B) Regulates Cardiac Mitochondrial Localization and Function of CLIC5
Sign Up to like & getrecommendations! Published in 2017 at "Biophysical Journal"
DOI: 10.1016/j.bpj.2016.11.1760
Abstract: Mitochondrial bioenergetics is critical for the cell survival. Mitochondrial ion channels like BKCa and KATP play a significant role in cardio-protection from ischemia-reperfusion (IR) injury possibly by modulating the mitochondrial physiology. Interestingly, inner mitochondrial membrane… read more here.
Keywords: chloride intracellular; splice; alternative splice; variant chloride ... See more keywords
Splice-variant-specific effects of primary aldosteronism point mutations on human CaV3.2 calcium channels.
Sign Up to like & getrecommendations! Published in 2019 at "Cell calcium"
DOI: 10.1016/j.ceca.2019.102104
Abstract: CaV3.2 calcium channels play important roles in both neural excitability and aldosterone secretion. Recent clinical studies found four germline mutations (S196 L, M1549I, V1951E and P2083 L) in CaV3.2 channels. All four mutations caused primary aldosteronism (PA),… read more here.
Keywords: splice; calcium channels; cav3 channels; cav3 calcium ... See more keywords
Systematic Analysis of Splice-Site-Creating Mutations in Cancer
Sign Up to like & getrecommendations! Published in 2018 at "Cell reports"
DOI: 10.1016/j.celrep.2018.03.052
Abstract: 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-site-creating mutations… read more here.
Keywords: splice; site creating; creating mutations; splice site ... See more keywords
Regulation of alternative splicing of PaFT and PaFDL1, the FT and FD homologs in Platanus acerifolia.
Sign Up to like & getrecommendations! Published in 2022 at "Gene"
DOI: 10.1016/j.gene.2022.146506
Abstract: Alternative splicing (AS) selects different alternative splice sites and produces a variety of transcripts with different exon/intron combinations, which may result in multiple protein isoforms. The splicing signals include cis-elements and RNA structures; however, the… read more here.
Keywords: alternative splicing; splice; alternative splice; intron ... See more keywords
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
Tension Lap Splice Length of Reinforcing Bars Embedded in Reactive Powder Concrete (RPC)
Sign Up to like & getrecommendations! Published in 2019 at "Structures"
DOI: 10.1016/j.istruc.2018.12.011
Abstract: Abstract Reactive Powder Concrete (RPC) is an emerging cementations construction material which has superior mechanical properties such as high compressive and tensile strength, high density and homogeneous. In this research, the tension splice behaviour of… read more here.
Keywords: splice; bars embedded; rpc; reinforcement ... See more keywords