Article
Severe lupus nephritis in a young adult with PTEN hamartoma tumour syndrome.
BMJ case reports - 12 Sept 2024
Drozdz Wiktoria, Joller Daniel, Grosse Philipp, Fehr Thomas
Abstract excerpt
On chromosome 10q23 is found the PTEN gene, which encodes a phosphate and tension homologue. The protein dephosphorylates phosphatidylinositol-(3,4,5)-trisphosphate at the plasma membrane to produce inorganic phosphatidylinositol-(4,5)-bisphosphate. This enzymatic activity inhibits the phosphatidylinositol-3-kinase, protein kinase B and mammalian target of the rapamycin signalling cascade. Consequently, essential...
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