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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: drori herishanu l. 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.
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. Horvath A, et al. Among authors: drori herishanu l. Cancer Res. 2009 Jul 1;69(13):5301-6. doi: 10.1158/0008-5472.CAN-09-0884. Epub 2009 Jun 23. Cancer Res. 2009. PMID: 19549888 Free PMC article.
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.
Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen JF, Bours V, Salvatori R, Beckers A. Stratakis CA, et al. Among authors: drori herishanu l. Clin Genet. 2010 Nov;78(5):457-63. doi: 10.1111/j.1399-0004.2010.01406.x. Clin Genet. 2010. PMID: 20507346 Free PMC article.
An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein.
Drori-Herishanu L, Horvath A, Nesterova M, Patronas Y, Lodish M, Bimpaki E, Patronas N, Agarwal S, Salvatori R, Martari M, Mericq V, Stratakis CA. Drori-Herishanu L, et al. Horm Metab Res. 2009 Aug;41(8):630-4. doi: 10.1055/s-0029-1216358. Epub 2009 Apr 23. Horm Metab Res. 2009. PMID: 19391077 Free PMC article.