Article

Li-Fraumeni Syndrome-Associated p53 Variants Disrupt Kidney and Urinary Tract Development

2025-09-03

Abstract excerpt

Li-Fraumeni Syndrome (LFS) is a rare autosomal dominant disorder that increases the risk of various types of cancer. It is primarily caused by inherited mutations in the TP53 gene. While the tumor suppressor function of p53 is well established, its role in embryonic development, particularly in the formation of the kidney and urinary tract, remains poorly understood. Moreover, its contribution to human congenital...

Topics

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

Identifiers and source

Literature Corpus work: b257b960-6349-5aad-b9d1-f458c0e470fb
DOI: 10.1101/2025.08.29.25333303

Open publication

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Click a neighbor to travelStep 1 · 12 closest

Li-Fraumeni Syndrome-Associated p53 Variants Disrupt Kidney and Urinary Tract DevelopmentDOI 10.1101/2025.08.29.25333303Read

Inherited TP53 Mutations and the Li-Fraumeni Syndrome.Semantic proximity Read

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndromeSemantic proximity Read

Li-Fraumeni SyndromeSemantic proximity Read

<i>TP53</i>Variant Clusters Stratify the Li-Fraumeni Spectrum and Reveal an Osteosarcoma-Prone SubgroupSemantic proximity Read

Current insights and future directions of Li-Fraumeni syndromeSemantic proximity Read

Germline mutations of p53 tumor gene linked to Li-Fraumeni syndrome (LFS) are associated with an increased risk of cancerSemantic proximity Read

Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome.Semantic proximity Read

The Biology of Hypomorphic TP53 Variants and Implications for Clinical Management.Semantic proximity Read

Genetic and functional studies of a germline TP53 splicing mutation in a Li–Fraumeni-like familySemantic proximity Read

Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome.Semantic proximity Read

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.Semantic proximity Read

Clinical and Genetic Analysis of Li-Fraumeni Syndrome with Novel TP53 MutationsSemantic proximity Read