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147 results

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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: nesterova m. 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.
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. Faucz FR, et al. Among authors: nesterova m. J Clin Endocrinol Metab. 2011 Jan;96(1):E135-40. doi: 10.1210/jc.2010-1655. Epub 2010 Sep 29. J Clin Endocrinol Metab. 2011. PMID: 20881257 Free PMC article.
A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.
Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA, Stratakis CA. Anselmo J, et al. Among authors: nesterova m. J Clin Endocrinol Metab. 2012 Feb;97(2):351-9. doi: 10.1210/jc.2011-2244. Epub 2011 Nov 23. J Clin Endocrinol Metab. 2012. PMID: 22112814 Free PMC article.
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: nesterova m. 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.
In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex.
Patronas Y, Horvath A, Greene E, Tsang K, Bimpaki E, Haran M, Nesterova M, Stratakis CA. Patronas Y, et al. Among authors: nesterova m. J Clin Endocrinol Metab. 2012 Mar;97(3):E496-502. doi: 10.1210/jc.2011-2220. Epub 2011 Dec 28. J Clin Endocrinol Metab. 2012. PMID: 22205709 Free PMC article.
Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.
Almeida MQ, Azevedo MF, Xekouki P, Bimpaki EI, Horvath A, Collins MT, Karaviti LP, Jeha GS, Bhattacharyya N, Cheadle C, Watkins T, Bourdeau I, Nesterova M, Stratakis CA. Almeida MQ, et al. Among authors: nesterova m. J Clin Endocrinol Metab. 2012 Apr;97(4):E687-93. doi: 10.1210/jc.2011-3000. Epub 2012 Jan 18. J Clin Endocrinol Metab. 2012. PMID: 22259056 Free PMC article.
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. Azevedo MF, et al. Among authors: nesterova m. J Clin Endocrinol Metab. 2013 Aug;98(8):E1393-400. doi: 10.1210/jc.2012-2838. Epub 2013 Jun 14. J Clin Endocrinol Metab. 2013. PMID: 23771924 Free PMC article.
Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications.
London E, Rothenbuhler A, Lodish M, Gourgari E, Keil M, Lyssikatos C, de la Luz Sierra M, Patronas N, Nesterova M, Stratakis CA. London E, et al. Among authors: nesterova m. J Clin Endocrinol Metab. 2014 Feb;99(2):E303-10. doi: 10.1210/jc.2013-1956. Epub 2013 Nov 18. J Clin Endocrinol Metab. 2014. PMID: 24248186 Free PMC article.
147 results