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<i>tp53</i> R217H and R242H Mutant Zebrafish Exhibit Dysfunctional p53 Hallmarks and Recapitulate Li-Fraumeni Syndrome Phenotypes

2024-08-03

Abstract excerpt

Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome associated with a highly penetrant cancer spectrum characterized by germline TP53 mutations. We characterized the first LFS zebrafish hotspot mutants, tp53 R217H and R242H (human R248H and R273H), and found these mutants exhibit partial-to-no activation of p53 target genes, have a defective G1 cell-cycle checkpoint, and are resistant to ap...

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Literature Corpus work
d88f253f-f93c-5e9b-bb53-57663403027c
DOI
10.1101/2024.07.31.605368
Open publication

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<i>tp53</i> R217H and R242H Mutant Zebrafish Exhibit Dysfunctional p53 Hallmarks and Recapitulate Li-Fraumeni Syndrome PhenotypesDOI 10.1101/2024.07.31.605368
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