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Wnt/β-catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1-activating mutations, which are associated with larger and nonsecreting tumors: a study in cortisol-secreting and -nonsecreting tumors.
Bonnet S, Gaujoux S, Launay P, Baudry C, Chokri I, Ragazzon B, Libé R, René-Corail F, Audebourg A, Vacher-Lavenu MC, Groussin L, Bertagna X, Dousset B, Bertherat J, Tissier F. Bonnet S, et al. Among authors: libe r. J Clin Endocrinol Metab. 2011 Feb;96(2):E419-26. doi: 10.1210/jc.2010-1885. Epub 2010 Nov 17. J Clin Endocrinol Metab. 2011. PMID: 21084400
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libè R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA. Horvath A, et al. Among authors: libe r. Nat Genet. 2006 Jul;38(7):794-800. doi: 10.1038/ng1809. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767104
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
Cazabat L, Libè R, Perlemoine K, René-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML. Cazabat L, et al. Among authors: libe r. Eur J Endocrinol. 2007 Jul;157(1):1-8. doi: 10.1530/EJE-07-0181. Eur J Endocrinol. 2007. PMID: 17609395
Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors.
Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J. Libé R, et al. Clin Cancer Res. 2008 Jun 15;14(12):4016-24. doi: 10.1158/1078-0432.CCR-08-0106. Clin Cancer Res. 2008. PMID: 18559625 Free PMC article.
Wnt/beta-catenin and 3',5'-cyclic adenosine 5'-monophosphate/protein kinase A signaling pathways alterations and somatic beta-catenin gene mutations in the progression of adrenocortical tumors.
Gaujoux S, Tissier F, Groussin L, Libé R, Ragazzon B, Launay P, Audebourg A, Dousset B, Bertagna X, Bertherat J. Gaujoux S, et al. Among authors: libe r. J Clin Endocrinol Metab. 2008 Oct;93(10):4135-40. doi: 10.1210/jc.2008-0631. Epub 2008 Jul 22. J Clin Endocrinol Metab. 2008. PMID: 18647815
138 results