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Page 1
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.
Mouse Prkar1a haploinsufficiency leads to an increase in tumors in the Trp53+/- or Rb1+/- backgrounds and chemically induced skin papillomas by dysregulation of the cell cycle and Wnt signaling.
Almeida MQ, Muchow M, Boikos S, Bauer AJ, Griffin KJ, Tsang KM, Cheadle C, Watkins T, Wen F, Starost MF, Bossis I, Nesterova M, Stratakis CA. Almeida MQ, et al. Among authors: nesterova m. Hum Mol Genet. 2010 Apr 15;19(8):1387-98. doi: 10.1093/hmg/ddq014. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080939 Free PMC article.
Integrated genomic analysis of nodular tissue in macronodular adrenocortical hyperplasia: progression of tumorigenesis in a disorder associated with multiple benign lesions.
Almeida MQ, Harran M, Bimpaki EI, Hsiao HP, Horvath A, Cheadle C, Watkins T, Nesterova M, Stratakis CA. Almeida MQ, et al. Among authors: nesterova m. J Clin Endocrinol Metab. 2011 Apr;96(4):E728-38. doi: 10.1210/jc.2010-2420. Epub 2011 Jan 20. J Clin Endocrinol Metab. 2011. PMID: 21252250 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.
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.
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