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Systemic <i>VHL</i> gene functions and the VHL disease

25 Apr 2012

Abstract excerpt

The von Hippel-Lindau tumor suppressor gene (VHL) is best known as an E3 ubiquitin ligase that negatively regulates the hypoxia inducible factor (HIF). VHL mutations are the genetic defects underlying several human diseases including polycythemia, familial VHL tumor syndrome and sporadic renal cell carcinoma. VHL mutations can lead to cell-autonomous phenotypes in the tumor cells. However, non-tumor...

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PMID: 22673568
DOI: 10.1016/j.febslet.2012.04.032

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