Articles with "nonsense mutant" as a keyword



Synergistic Rescue of Nonsense Mutant Tumor Suppressor p53 by Combination Treatment with Aminoglycosides and Mdm2 Inhibitors

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Published in 2018 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2017.00323

Abstract: The tumor suppressor gene TP53 is inactivated by mutation in a large fraction of human tumors. Around 10% of TP53 mutations are nonsense mutations that lead to premature termination of translation and expression of truncated… read more here.

Keywords: p53; combination treatment; nonsense mutant;
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A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

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Published in 2023 at "Biomedicines"

DOI: 10.3390/biomedicines11051438

Abstract: Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf… read more here.

Keywords: nonsense mutant; exon nonsense; dysferlin exon; model ... See more keywords