Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24472
Abstract: Galloway–Mowat syndrome (GAMOS) is a very rare condition characterized by early‐onset nephrotic syndrome and microcephaly with variable neurologic features. While considerable genetic heterogeneity of GAMOS has been identified, the majority of cases are caused by… read more here.
Keywords: novel tp53rk; mowat syndrome; mutation; tp53rk ... See more keywords
Abstract 2979: Deletion of p53-related protein kinase (TP53RK) suppresses solar UV-induced photocarcinogenesis by inhibiting PDL1 expression and enhancing CD8+ T cell infiltration
Sign Up to like & getrecommendations! Published in 2025 at "Cancer Research"
DOI: 10.1158/1538-7445.am2025-2979
Abstract: Nonmelanoma skin cancers (NMSCs), including cutaneous squamous cell carcinoma (cSCC), are primarily caused by solar ultraviolet (UV) exposure and represent the most common cancers in the United States. TP53RK (p53-related protein kinase, also known as… read more here.
Keywords: deletion; tp53rk; cell; pdl1 expression ... See more keywords