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- W2024064023 abstract "Mutations in the von Hippel-Lindau (VHL) gene are associated with hereditary and sporadic clear cell renal carcinoma. VHL acts in a ubiquitin ligase complex regulating hypoxia-inducible factor-1 (HIF-1), but the link between this function and cancer development is unclear. Here we show that in the kidneys of patients with VHL disease, HIF activation is an early event occurring in morphologically normal single cells within the renal tubules. In comparison, dysplastic lesions, cystic lesions, and tumors showed evidence of additional mechanisms that amplify HIF activation. Detection of cells with constitutive HIF activation identified a large number of previously unrecognized foci of VHL inactivation. In proximal tubules these were almost entirely unicellular, whereas multicellular foci were almost exclusively seen in the distal nephron." @default.
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- W2024064023 date "2002-06-01" @default.
- W2024064023 modified "2023-10-16" @default.
- W2024064023 title "HIF activation identifies early lesions in VHL kidneys" @default.
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- W2024064023 doi "https://doi.org/10.1016/s1535-6108(02)00071-5" @default.
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