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Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.

Vezzosi D, Libé R, Baudry C, Rizk-Rabin M, Horvath A, Levy I, René-Corail F, Ragazzon B, Stratakis CA, Vandecasteele G, Bertherat J.

J Clin Endocrinol Metab. 2012 Nov;97(11):E2063-9. doi: 10.1210/jc.2012-2275. Epub 2012 Sep 20.


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.

Clin Cancer Res. 2008 Jun 15;14(12):4016-24. doi: 10.1158/1078-0432.CCR-08-0106.


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.

J Clin Endocrinol Metab. 2011 Jan;96(1):E208-14. doi: 10.1210/jc.2010-1704. Epub 2010 Nov 3.


Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population.

Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA.

Cancer Res. 2006 Dec 15;66(24):11571-5.


Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.

Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-Sanson ML, Bertherat J, Carraro DM, Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, Stratakis CA.

J Clin Endocrinol Metab. 2011 Jan;96(1):E135-40. doi: 10.1210/jc.2010-1655. Epub 2010 Sep 29.


Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.

Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA.

Cancer Res. 2009 Jul 1;69(13):5301-6. doi: 10.1158/0008-5472.CAN-09-0884. Epub 2009 Jun 23.


Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients.

Peverelli E, Ermetici F, Filopanti M, Elli FM, Ronchi CL, Mantovani G, Ferrero S, Bosari S, Beck-Peccoz P, Lania A, Spada A.

Eur J Endocrinol. 2009 Nov;161(5):687-94. doi: 10.1530/EJE-09-0677. Epub 2009 Aug 11.


Rare inactivating PDE11A variants associated with testicular germ cell tumors.

Pathak A, Stewart DR, Faucz FR, Xekouki P, Bass S, Vogt A, Zhang X, Boland J, Yeager M, Loud JT, Nathanson KL, McGlynn KA, Stratakis CA, Greene MH, Mirabello L.

Endocr Relat Cancer. 2015 Dec;22(6):909-17. doi: 10.1530/ERC-15-0034.


Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions.

Boikos SA, Horvath A, Heyerdahl S, Stein E, Robinson-White A, Bossis I, Bertherat J, Carney JA, Stratakis CA.

Horm Metab Res. 2008 May;40(5):347-53. doi: 10.1055/s-2008-1076694.


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.

Nat Genet. 2006 Jul;38(7):794-800. Epub 2006 Jun 11.


Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.

Azevedo MF, Horvath A, Bornstein ER, Almeida MQ, Xekouki P, Faucz FR, Gourgari E, Nadella K, Remmers EF, Quezado M, de Alexandre RB, Kratz CP, Nesterova M, Greene MH, Stratakis CA.

J Clin Endocrinol Metab. 2013 Aug;98(8):E1393-400. doi: 10.1210/jc.2012-2838. Epub 2013 Jun 14.


Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreds.

Gagliardi L, Hotu C, Casey G, Braund WJ, Ling KH, Dodd T, Manavis J, Devitt PG, Cutfield R, Rudzki Z, Scott HS, Torpy DJ.

Clin Endocrinol (Oxf). 2009 Jun;70(6):883-91. doi: 10.1111/j.1365-2265.2008.03471.x. Epub 2008 Nov 5.


17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia.

Bourdeau I, Matyakhina L, Stergiopoulos SG, Sandrini F, Boikos S, Stratakis CA.

J Clin Endocrinol Metab. 2006 Sep;91(9):3626-32. Epub 2006 Jun 13.


Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.

Bimpaki EI, Nesterova M, Stratakis CA.

Eur J Endocrinol. 2009 Jul;161(1):153-61. doi: 10.1530/EJE-09-0027. Epub 2009 May 8.


Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors.

Hsiao HP, Kirschner LS, Bourdeau I, Keil MF, Boikos SA, Verma S, Robinson-White AJ, Nesterova M, Lacroix A, Stratakis CA.

J Clin Endocrinol Metab. 2009 Aug;94(8):2930-7. doi: 10.1210/jc.2009-0516. Epub 2009 Jun 9.


Alterations of Phosphodiesterases in Adrenocortical Tumors.

Hannah-Shmouni F, Faucz FR, Stratakis CA.

Front Endocrinol (Lausanne). 2016 Aug 30;7:111. doi: 10.3389/fendo.2016.00111. eCollection 2016. Review.


Cellular and molecular abnormalities of a macronodular adrenal hyperplasia causing beta-blocker-sensitive Cushing's syndrome.

Mazzuco TL, Thomas M, Martinie M, Cherradi N, Sturm N, Feige JJ, Chabre O.

Arq Bras Endocrinol Metabol. 2007 Dec;51(9):1452-62.


The ectopic expression of the gastric inhibitory polypeptide receptor is frequent in adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia, but rare in unilateral tumors.

Groussin L, Perlemoine K, Contesse V, Lefebvre H, Tabarin A, Thieblot P, Schlienger JL, Luton JP, Bertagna X, Bertherat J.

J Clin Endocrinol Metab. 2002 May;87(5):1980-5.


Vasopressin responsiveness of subclinical Cushing's syndrome due to ACTH-independent macronodular adrenocortical hyperplasia.

Tatsuno I, Uchida D, Tanaka T, Koide H, Shigeta A, Ichikawa T, Sasano H, Saito Y.

Clin Endocrinol (Oxf). 2004 Feb;60(2):192-200.


Systematic analysis of G protein-coupled receptor gene expression in adrenocorticotropin-independent macronodular adrenocortical hyperplasia identifies novel targets for pharmacological control of adrenal Cushing's syndrome.

Assie G, Louiset E, Sturm N, René-Corail F, Groussin L, Bertherat J, Thomas M, Lefebvre H, Feige JJ, Clauser E, Chabre O, Cherradi N.

J Clin Endocrinol Metab. 2010 Oct;95(10):E253-62. doi: 10.1210/jc.2009-2281. Epub 2010 Jul 21.


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