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Page 1
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. Among authors: fratticci a. 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.
Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.
Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA. Libé R, et al. Among authors: fratticci a. J Clin Endocrinol Metab. 2011 Jan;96(1):E208-14. doi: 10.1210/jc.2010-1704. Epub 2010 Nov 3. J Clin Endocrinol Metab. 2011. PMID: 21047926 Free PMC article.
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: fratticci a. Nat Genet. 2006 Jul;38(7):794-800. doi: 10.1038/ng1809. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767104
A rare cause of hypertestosteronemia in a 68-year-old patient: a Leydig cell tumor due to a somatic GNAS (guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1)-activating mutation.
Libé R, Fratticci A, Lahlou N, Jornayvaz FR, Tissier F, Louiset E, Guibourdenche J, Vieillefond A, Zerbib M, Bertherat J. Libé R, et al. Among authors: fratticci a. J Androl. 2012 Jul-Aug;33(4):578-84. doi: 10.2164/jandrol.111.013441. Epub 2011 Oct 20. J Androl. 2012. PMID: 22016347
Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.
Rothenbuhler A, Horvath A, Libé R, Faucz FR, Fratticci A, Raffin Sanson ML, Vezzosi D, Azevedo M, Levy I, Almeida MQ, Lodish M, Nesterova M, Bertherat J, Stratakis CA. Rothenbuhler A, et al. Among authors: fratticci a. Clin Endocrinol (Oxf). 2012 Aug;77(2):195-9. doi: 10.1111/j.1365-2265.2012.04366.x. Clin Endocrinol (Oxf). 2012. PMID: 22335482 Free PMC article.
Human pituitary tumours express the bHLH transcription factors NeuroD1 and ASH1.
Ferretti E, Di Stefano D, Zazzeroni F, Gallo R, Fratticci A, Carfagnini R, Angiulli S, Santoro A, Minniti G, Tamburrano G, Alesse E, Cantore G, Gulino A, Jaffrain-Rea ML. Ferretti E, et al. Among authors: fratticci a. J Endocrinol Invest. 2003 Oct;26(10):957-65. doi: 10.1007/BF03348192. J Endocrinol Invest. 2003. PMID: 14759067
13 results