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    Nat Rev Cancer. 2002 Sep;2(9):673-82.

    Molecular basis of the VHL hereditary cancer syndrome.

    Kaelin WG Jr.

    Source

    Howard Hughes Medical Institute, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. william_kaelin@dfci.harvard.edu

    Abstract

    The von Hippel-Lindau hereditary cancer syndrome was first described about 100 years ago. The unusual clinical features of this disorder predicted a role for the von Hippel-Lindau gene (VHL) in the oxygen-sensing pathway. Indeed, recent studies of this gene have helped to decipher how cells sense changes in oxygen availability, and have revealed a previously unappreciated role of prolyl hydroxylation in intracellular signalling. These studies, in turn, are laying the foundation for the treatment of a diverse set of disorders, including cancer, myocardial infarction and stroke.

    PMID:
    12209156
    [PubMed - indexed for MEDLINE]

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