Gimenez-Roqueplo AP - Search Results

1

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roqueplo AP, Eng C, Carney JA, Stratakis CA. Pasini B, et al. Eur J Hum Genet. 2008 Jan;16(1):79-88. doi: 10.1038/sj.ejhg.5201904. Epub 2007 Aug 1. Eur J Hum Genet. 2008. PMID: 17667967

2

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. 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.

3

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rötig A, Jeunemaitre X. Gimenez-Roqueplo AP, et al. J Clin Endocrinol Metab. 2002 Oct;87(10):4771-4. doi: 10.1210/jc.2002-020525. J Clin Endocrinol Metab. 2002. PMID: 12364472

4

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X; COMETE Network. Gimenez-Roqueplo AP, et al. Cancer Res. 2003 Sep 1;63(17):5615-21. Cancer Res. 2003. PMID: 14500403

5

Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.

Favier J, Brière JJ, Strompf L, Amar L, Filali M, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP; PGL.NET Network. Favier J, et al. Horm Res. 2005;63(4):171-9. doi: 10.1159/000084685. Epub 2005 Mar 24. Horm Res. 2005. PMID: 15795514 Free article. Review.

6

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

Brière JJ, Favier J, Bénit P, El Ghouzzi V, Lorenzato A, Rabier D, Di Renzo MF, Gimenez-Roqueplo AP, Rustin P. Brière JJ, et al. Hum Mol Genet. 2005 Nov 1;14(21):3263-9. doi: 10.1093/hmg/ddi359. Epub 2005 Sep 29. Hum Mol Genet. 2005. PMID: 16195397

7

Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.

Brière JJ, Favier J, Gimenez-Roqueplo AP, Rustin P. Brière JJ, et al. Am J Physiol Cell Physiol. 2006 Dec;291(6):C1114-20. doi: 10.1152/ajpcell.00216.2006. Epub 2006 Jun 7. Am J Physiol Cell Physiol. 2006. PMID: 16760265 Free article. Review.

8

Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.

Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, Bertherat J, Bertagna X, Schlumberger M, Jeunemaitre X, Gimenez-Roqueplo AP, Plouin PF. Amar L, et al. J Clin Endocrinol Metab. 2007 Oct;92(10):3822-8. doi: 10.1210/jc.2007-0709. Epub 2007 Jul 24. J Clin Endocrinol Metab. 2007. PMID: 17652212

9

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

Timmers HJ, Pacak K, Bertherat J, Lenders JW, Duet M, Eisenhofer G, Stratakis CA, Niccoli-Sire P, Tran BH, Burnichon N, Gimenez-Roqueplo AP. Timmers HJ, et al. Clin Endocrinol (Oxf). 2008 Apr;68(4):561-6. doi: 10.1111/j.1365-2265.2007.03086.x. Epub 2007 Oct 31. Clin Endocrinol (Oxf). 2008. PMID: 17973943

10

Clinical aspects of SDHx-related pheochromocytoma and paraganglioma.

Timmers HJ, Gimenez-Roqueplo AP, Mannelli M, Pacak K. Timmers HJ, et al. Endocr Relat Cancer. 2009 Jun;16(2):391-400. doi: 10.1677/ERC-08-0284. Epub 2009 Feb 3. Endocr Relat Cancer. 2009. PMID: 19190077 Free PMC article. Review.

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