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• W4244184103 abstract "von Hippel-Lindau disease (VHL) disease increases susceptibility to several malignancies, including renal cell carcinoma, haemangioblastomas of the central nervous system or retina and phaeochromocytomas. The VHL tumour suppressor gene, responsible for the disease, encodes for a major regulator of the hypoxic response by targeting the transcription factor hypoxia inducible factor (HIF) for degradation. In this review, we present a synopsis of clinical features of the disease and emphasise unique aspects of VHL syndrome in the paediatric population. Genotype-phenotype associations based on the risk of phaeochromocytoma have pointed to the existence of additional, HIF-independent functions of VHL that remain underexplored. We also examine the progress on these pleiotropic roles of VHL, which contribute to explain clinical features of VHL disease. These advances have important translational implications and are likely to offer a new host of therapeutic options to individuals affected by the disease in the future." @default.
• W4244184103 created "2022-05-12" @default.
• W4244184103 creator A5062378419 @default.
• W4244184103 creator A5088837419 @default.
• W4244184103 date "2010-06-01" @default.
• W4244184103 modified "2023-10-11" @default.
• W4244184103 title "VHL Disease" @default.
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• W4244184103 doi "https://doi.org/10.1016/j.beem.2010.01.002" @default.
• W4244184103 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20833332" @default.
• W4244184103 hasPublicationYear "2010" @default.

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