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Page 1
Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors.
Meoli E, Bossis I, Cazabat L, Mavrakis M, Horvath A, Stergiopoulos S, Shiferaw ML, Fumey G, Perlemoine K, Muchow M, Robinson-White A, Weinberg F, Nesterova M, Patronas Y, Groussin L, Bertherat J, Stratakis CA. Meoli E, et al. Among authors: patronas y. Cancer Res. 2008 May 1;68(9):3133-41. doi: 10.1158/0008-5472.CAN-08-0064. Cancer Res. 2008. PMID: 18451138 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: patronas y. 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.
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. 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.
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. Among authors: patronas y. 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.
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.
Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M, Stratakis CA. Horvath A, et al. Among authors: patronas y. Eur J Hum Genet. 2008 Oct;16(10):1245-53. doi: 10.1038/ejhg.2008.85. Epub 2008 Apr 23. Eur J Hum Genet. 2008. PMID: 18431404 Free PMC article.