Mutations in the VHL gene in sporadic apparently congenital polycythemia.

@article{Pastore2003MutationsIT,
  title={Mutations in the VHL gene in sporadic apparently congenital polycythemia.},
  author={Yves D. Pastore and Jaroslav Jelinek and Sonny O. Ang and Yongli Guan and Enli Liu and Katerina Jedlickova and Lakshmanan Krishnamurti and Josef T Prchal},
  journal={Blood},
  year={2003},
  volume={101 4},
  pages={1591-5}
}
The congenital polycythemic disorders with elevated erythropoietin (Epo) have been until recently an enigma, and abnormality in the hypoxia-sensing pathway has been hypothesized as a possible mechanism. The tumor suppressor von Hippel-Lindau (VHL) participates in the hypoxia-sensing pathway, as it binds to the proline-hydroxylated form of the hypoxia-inducible factor 1alpha (HIF-1alpha) and mediates its ubiquitination and proteosomal degradation. The loss of VHL function may result in the… CONTINUE READING

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Oxygen sensors and angiogenesis.

Seminars in cell & developmental biology • 2002

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