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   Articles with "premature termination" as a keyword



The suppression of premature termination codons and the repair of splicing mutations in CFTR

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recommendations! Published in 2017 at "Current Opinion in Pharmacology"

DOI: 10.1016/j.coph.2017.09.017

Abstract: HighlightsPremature termination codons are susceptible to constitutive readthrough.Readthrough compounds may restore synthesis of a functional full‐length protein.Mutations that alter splicing induce inappropriate inclusion or skipping of an exon.Oligonucleotide‐based therapies inhibit or activate specific splicing events.… read more here.

Keywords: codons repair; termination codons; suppression premature; splicing mutations ... See more keywords

Nonequivalence of Zfp423 premature termination codons in mice

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recommendations! Published in 2025 at "Genetics"

DOI: 10.1093/genetics/iyaf164

Abstract: Genetic variants that introduce a premature termination codon (PTC) are often assumed equivalent and functionally null. Exceptions depend on the specific architectures of the affected mRNA and protein. Here we address phenotypic differences among early… read more here.

Keywords: premature termination; nonequivalence zfp423; termination; ptc variants ... See more keywords

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

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recommendations! Published in 2024 at "Blood"

DOI: 10.1182/blood.2023021777

Abstract: Key Points • Loss-of-function variants generating premature termination codons associate with bleeds; RNA levels differ between replicate cell cultures.• No PTC-truncated proteins were detected; ENG Q436X (but not R93X) induced cell stress and had pathogenic… read more here.

Keywords: premature termination; mutations causing; causing premature; termination codons ... See more keywords

Premature termination codon readthrough in human cells occurs in novel cytoplasmic foci and requires UPF proteins

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recommendations! Published in 2017 at "Journal of Cell Science"

DOI: 10.1242/jcs.198176

Abstract: ABSTRACT Nonsense-mutation-containing messenger ribonucleoprotein particles (mRNPs) transit through cytoplasmic foci called P-bodies before undergoing nonsense-mediated mRNA decay (NMD), a cytoplasmic mRNA surveillance mechanism. This study shows that the cytoskeleton modulates transport of nonsense-mutation-containing mRNPs to… read more here.

Keywords: cytoplasmic foci; upf proteins; termination codon; premature termination ... See more keywords

Premature termination codon: a tunable protein translation approach.

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recommendations! Published in 2022 at "BioTechniques"

DOI: 10.2144/btn-2022-0046

Abstract: Cellular protein-protein interactions are largely dependent on the activities of signaling proteins. Here, we present a technique to tune gene expression at translation level based on G418-inducible readthrough premature termination codon (PTC-on). To demonstrate how this PTC-on… read more here.

Keywords: termination codon; premature termination; p53; approach ... See more keywords

Premature Termination Codon of 1Dy12 Gene Improves Cookie Quality in Ningmai9 Wheat

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recommendations! Published in 2022 at "Frontiers in Plant Science"

DOI: 10.3389/fpls.2022.835164

Abstract: The area between middle and lower reaches of the Yangtze River is the largest region for soft wheat production in China. In soft wheat breeding, the lack of germplasm with desirable quality for end-use products… read more here.

Keywords: quality; wheat; termination codon; premature termination ... See more keywords

Premature Termination Codon in 5′ Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation

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recommendations! Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23020656

Abstract: Arrhythmogenic cardiomyopathy is a heritable heart disease associated with desmosomal mutations, especially premature termination codon (PTC) variants. It is known that PTC triggers the nonsense-mediated decay (NMD) mechanism. It is also accepted that PTC in… read more here.

Keywords: premature termination; region; termination codon; reinitiation ... See more keywords