Article

Mis-splicing Drives Loss of Function of p53 <sup>E224D</sup> Point Mutation

2023-08-03

Abstract excerpt

<h4>Background</h4> Tp53 is the most commonly mutated gene in cancer. Canonical Tp53 DNA damage response pathways are well characterized and classically thought to underlie the tumor suppressive effect of Tp53. Challenging this dogma, mouse models have revealed that p53 driven apoptosis and cell cycle arrest are dispensable for tumor suppression. Here, we investigated the inverse context of a p53 mutation predict...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2b3163e3-1a70-53d6-b113-7c3b66496f43
DOI: 10.1101/2023.08.01.551439

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mis-splicing Drives Loss of Function of p53 <sup>E224D</sup> Point MutationDOI 10.1101/2023.08.01.551439Read

Mutant p53: evolving perspectives.Semantic proximity Read

TP53 mutants in the tower of babel of cancer progression.Semantic proximity Read

Loss-of-function genetics in mammalian cells: the p53 tumor suppressor model.Semantic proximity Read

Characterization of germline TP53 splicing mutations and their genetic and functional analysisSemantic proximity Read

Missense but mis-spliced: germline <i>TP53</i> variant c.671A>C (p.E224A) and the path from uncertainty to pathogenicitySemantic proximity Read

Characterization of p53 p.T253I as a pathogenic mutation underlying Li-Fraumeni syndrome in an infant with adrenal cortical carcinomaSemantic proximity Read

Characterization of p53 p.T253I as a pathogenic mutation underlying Li-Fraumeni SyndromeSemantic proximity Read

Gain of function of mutant p53: R282W on the peak?Semantic proximity Read

Targeted point mutations of p53 lead to dominant-negative inhibition of wild-type p53 functionSemantic proximity Read

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.Semantic proximity Read

The p53 R267W mutation intervenes p21-mediated cell cycle arrest and promotes proliferation and migration of lung cancer cells.Semantic proximity Read

Conservation and divergence of the p53 gene regulatory network between mice and humansSemantic proximity Read