Articles with "splicing" as a keyword



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Alternative Splicing and Liver Disease.

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Published in 2021 at "Annals of hepatology"

DOI: 10.1016/j.aohep.2021.100534

Abstract: Alternative splicing produces complex and dynamic changes in the protein isoforms that are necessary for the proper biological functioning of the metabolic pathways involved in liver development and hepatocyte homeostasis. Changes in the physiological state… read more here.

Keywords: liver disease; splicing; alternative splicing; splicing liver ... See more keywords
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The Functional Impact of Alternative Splicing in Cancer.

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Published in 2017 at "Cell reports"

DOI: 10.1016/j.celrep.2017.08.012

Abstract: Alternative splicing changes are frequently observed in cancer and are starting to be recognized as important signatures for tumor progression and therapy. However, their functional impact and relevance to tumorigenesis remain mostly unknown. We carried… read more here.

Keywords: functional impact; splicing changes; cancer; splicing ... See more keywords
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Effect of PFOA on DNA Methylation and Alternative Splicing in Mouse Liver.

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Published in 2020 at "Toxicology letters"

DOI: 10.1016/j.toxlet.2020.04.012

Abstract: Perfluorooctanoic acid (PFOA) is a persistent organic pollutant prevalent in the environment and implicated in damage to the liver leading to a fatty liver phenotype called hepatocellular steatosis. Our goal is to provide a basis… read more here.

Keywords: dna methylation; splicing; pfoa; liver ... See more keywords
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CRISPR artificial splicing factors

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Published in 2020 at "Nature Communications"

DOI: 10.1038/s41467-020-16806-4

Abstract: Alternative splicing allows expression of mRNA isoforms from a single gene, expanding the diversity of the proteome. Its prevalence in normal biological and disease processes warrant precise tools for modulation. Here we report the engineering… read more here.

Keywords: casfx; crispr artificial; control; artificial splicing ... See more keywords
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SpliceTools, a suite of downstream RNA splicing analysis tools to investigate mechanisms and impact of alternative splicing

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Published in 2023 at "Nucleic Acids Research"

DOI: 10.1093/nar/gkad111

Abstract: Abstract As a fundamental aspect of normal cell signaling and disease states, there is great interest in determining alternative splicing (AS) changes in physiologic, pathologic, and pharmacologic settings. High throughput RNA sequencing and specialized software… read more here.

Keywords: splicing; inhibition; alternative splicing; analysis ... See more keywords
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Abstract 2362: Comprehensive portrait of canonical and non-canonical splicing in cancer

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Published in 2018 at "Cancer Research"

DOI: 10.1158/1538-7445.am2018-2362

Abstract: Current annotation methods typically classify mutations as disruptors of splicing if they fall on either the consensus intronic dinucleotide splice donor, GT, or the splice acceptor, AG. As a group, splice site mutations have been… read more here.

Keywords: splice; comprehensive portrait; portrait canonical; cancer ... See more keywords
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Recursive splicing discovery using lariats in total RNA sequencing

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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
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Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing

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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