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   Articles with "utr variants" as a keyword



Integrative assessment of CIP2A overexpression and mutational effects in human malignancies identifies possible deleterious variants.

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recommendations! Published in 2021 at "Computers in biology and medicine"

DOI: 10.1016/j.compbiomed.2021.104986

Abstract: KIAA1524 is the gene encoding the human cancerous inhibitor of PP2A (CIP2A) protein which is regarded as a novel target for cancer therapy. It is overexpressed in 65%-90% of tissues in almost all studied human… read more here.

Keywords: cip2a overexpression; analysis; cip2a; utr variants ... See more keywords

Massively parallel screen uncovers many rare 3′ UTR variants regulating mRNA abundance of cancer driver genes

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recommendations! Published in 2024 at "Nature Communications"

DOI: 10.1038/s41467-024-46795-7

Abstract: Understanding the function of rare non-coding variants represents a significant challenge. Using MapUTR, a screening method, we studied the function of rare 3′ UTR variants affecting mRNA abundance post-transcriptionally. Among 17,301 rare gnomAD variants, an… read more here.

Keywords: utr variants; cancer; rare utr; mrna abundance ... See more keywords

PRKCE non-coding variants influence on transcription as well as translation of its gene

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recommendations! Published in 2022 at "RNA Biology"

DOI: 10.1080/15476286.2022.2139110

Abstract: ABSTRACT Untranslated regions of the gene play a crucial role in gene expression regulation at mRNA and protein levels. Mutations at UTRs impact expression by altering transcription factor binding, transcriptional/translational efficacy, miRNA-mediated gene regulation, mRNA… read more here.

Keywords: transcription; influence; prkce; gene ... See more keywords

Predicting functional UTR variants by integrating region-specific features

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recommendations! Published in 2024 at "Briefings in Bioinformatics"

DOI: 10.1093/bib/bbae248

Abstract: Abstract The untranslated region (UTR) of messenger ribonucleic acid (mRNA), including the 5′UTR and 3′UTR, plays a critical role in regulating gene expression and translation. Variants within the UTR can lead to changes associated with… read more here.

Keywords: utr variants; region specific; sequence; functional utr ... See more keywords

Common and Rare 5′UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics

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recommendations! Published in 2022 at "Frontiers in Cardiovascular Medicine"

DOI: 10.3389/fcvm.2022.841032

Abstract: High-throughput sequencing (HTS) technologies are revolutionizing the research and molecular diagnosis landscape by allowing the exploration of millions of nucleotide sequences at an unprecedented scale. These technologies are of particular interest in the identification of… read more here.

Keywords: reading frames; common rare; upstream open; utr variants ... See more keywords