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The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.
Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rötig A, Jeunemaitre X. Gimenez-Roqueplo AP, et al. Among authors: favier j. Am J Hum Genet. 2001 Dec;69(6):1186-97. doi: 10.1086/324413. Epub 2001 Oct 16. Am J Hum Genet. 2001. PMID: 11605159 Free PMC article.
[Physiological angiogenesis].
Favier J, Corvol P. Favier J, et al. Therapie. 2001 Sep-Oct;56(5):455-63. Therapie. 2001. PMID: 11806281 Review. French.
[Fundamentals of angiogenesis].
Corvol P, Favier J. Corvol P, et al. Among authors: favier j. Journ Annu Diabetol Hotel Dieu. 2005:1-9. Journ Annu Diabetol Hotel Dieu. 2005. PMID: 16161300 Review. French. No abstract available.
221 results