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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. Horvath A, et al. Among authors: giatzakis c. Nat Genet. 2006 Jul;38(7):794-800. doi: 10.1038/ng1809. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767104
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. Horvath A, et al. Among authors: giatzakis c. Cancer Res. 2006 Dec 15;66(24):11571-5. doi: 10.1158/0008-5472.CAN-06-2914. Cancer Res. 2006. PMID: 17178847
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: giatzakis c. 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.
Large deletions of the PRKAR1A gene in Carney complex.
Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA. Horvath A, et al. Among authors: giatzakis c. Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155. Clin Cancer Res. 2008. PMID: 18223213
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci.
Stratakis CA, Kirschner LS, Taymans SE, Tomlinson IP, Marsh DJ, Torpy DJ, Giatzakis C, Eccles DM, Theaker J, Houlston RS, Blouin JL, Antonarakis SE, Basson CT, Eng C, Carney JA. Stratakis CA, et al. Among authors: giatzakis c. J Clin Endocrinol Metab. 1998 Aug;83(8):2972-6. doi: 10.1210/jcem.83.8.5042. J Clin Endocrinol Metab. 1998. PMID: 9709978
Does somatostatin have a role in the regulation of cortisol secretion in primary pigmented nodular adrenocortical disease (ppnad)? a clinical and in vitro investigation.
Bram Z, Xekouki P, Louiset E, Keil MF, Avgeropoulos D, Giatzakis C, Nesterova M, Sinaii N, Hofland LJ, Cherqaoui R, Lefebvre H, Stratakis CA. Bram Z, et al. Among authors: giatzakis c. J Clin Endocrinol Metab. 2014 May;99(5):E891-901. doi: 10.1210/jc.2013-2657. Epub 2014 Feb 10. J Clin Endocrinol Metab. 2014. PMID: 24512486 Free PMC article. Clinical Trial.
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