Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

325 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 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. Among authors: rustin p. 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
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?
Xekouki P, Pacak K, Almeida M, Wassif CA, Rustin P, Nesterova M, de la Luz Sierra M, Matro J, Ball E, Azevedo M, Horvath A, Lyssikatos C, Quezado M, Patronas N, Ferrando B, Pasini B, Lytras A, Tolis G, Stratakis CA. Xekouki P, et al. Among authors: rustin p. J Clin Endocrinol Metab. 2012 Mar;97(3):E357-66. doi: 10.1210/jc.2011-1179. Epub 2011 Dec 14. J Clin Endocrinol Metab. 2012. PMID: 22170724 Free PMC article.
SDHA is a tumor suppressor gene causing paraganglioma.
Burnichon N, Brière JJ, Libé R, Vescovo L, Rivière J, Tissier F, Jouanno E, Jeunemaitre X, Bénit P, Tzagoloff A, Rustin P, Bertherat J, Favier J, Gimenez-Roqueplo AP. Burnichon N, et al. Among authors: rustin p. Hum Mol Genet. 2010 Aug 1;19(15):3011-20. doi: 10.1093/hmg/ddq206. Epub 2010 May 18. Hum Mol Genet. 2010. PMID: 20484225 Free PMC article.
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.
Pollard PJ, Brière JJ, Alam NA, Barwell J, Barclay E, Wortham NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales SJ, Chung YL, Griffiths JR, Dalgleish A, McGrath JA, Gleeson MJ, Hodgson SV, Poulsom R, Rustin P, Tomlinson IP. Pollard PJ, et al. Among authors: rustin p. Hum Mol Genet. 2005 Aug 1;14(15):2231-9. doi: 10.1093/hmg/ddi227. Epub 2005 Jun 29. Hum Mol Genet. 2005. PMID: 15987702
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. Among authors: rustin p. J Clin Endocrinol Metab. 2002 Oct;87(10):4771-4. doi: 10.1210/jc.2002-020525. J Clin Endocrinol Metab. 2002. PMID: 12364472
We have recently shown that an inactivation of the SDHD gene is associated with a complete loss of mitochondrial complex II activity and a stimulation of the angiogenic pathway (Gimenez-Roqueplo, A. P., J. Favier, P. Rustin, J. J. Mourad, P. F. Plouin, …
We have recently shown that an inactivation of the SDHD gene is associated with a complete loss of mitochondrial complex II activity and a s …
325 results