Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

doi:10.1086/377108

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Article

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

American journal of human genetics - 1 Aug 2003

Pastore Yves, Jedlickova Katerina, Guan Yongli, Liu Enli, Fahner James, Hasle Henrik, Prchal Jaroslav F, Prchal Josef T

Abstract excerpt

The von Hippel-Lindau (pVHL) protein plays an important role in hypoxia sensing. It binds to the hydroxylated hypoxia-inducible factor 1 alpha (HIF-1 alpha) and serves as a recognition component of an E3-ubiquitin ligase complex. In hypoxia or secondary to a mutated VHL gene, the nondegraded HIF-1 alpha forms a heterodimer with HIF-beta and leads to increased transcription of hypoxia-inducible genes, including...

Topics

Adolescent
Adult
Alleles
Base Sequence
Child
DNA
DNA Mutational Analysis
Female
Genes, Tumor Suppressor
Heterozygote
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hypoxia

Hypoxia-Inducible Factor 1, alpha Subunit

Ligases

Macromolecular Substances

Male

Models, Molecular

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PMID: 12844285
DOI: 10.1086/377108
PMCID: PMC1180379

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