Journal
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Volume 14, Issue 11, Pages 2703-2711Publisher
AMER SOC NEPHROLOGY
DOI: 10.1097/01.ASN.0000092803.69761.41
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Recent studies of a relatively rare hereditary cancer syndrome, von Hippel-Lindau (VHL) disease, have shed new light on the molecular pathogenesis of kidney cancer and, perhaps more important, on how mammalian cells sense and respond to changes in oxygen availability. This knowledge is already translating into new therapeutic targets for kidney cancer as well as for multiple conditions, such as myocardial infarction and stroke, in which ischemia plays a pathogenic role. This review summarizes the current knowledge of the molecular pathogenesis of von Hippel-Lindau disease and the role of the VHL gene product (pVHL) in kidney cancer and the mammalian oxygen sensing pathway.
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