Advanced search
Publication Cover
Expert Review of Endocrinology & Metabolism Volume 7, 2012 - Issue 6
Submit an article Journal homepage
569
Views
1
CrossRef citations to date
0
Altmetric
Interview

Research and development in the molecular genetics of pituitary adenomas and related tumors

Constantine A Stratakis NICHD, NIH, 31 Center Drive, Building 31, Room 2A46, Bethesda, MD 20892-2425, USA. [email protected]
Pages 593-598 | Published online: 10 Jan 2014

References

  • Stratakis EK, Schartaui W. Tryptophan 2,3 dio-oxygenase in the development of stick insect Carausius morosus. Br. J. Comp. Physiology 132, 351–355 (1979).
  • Stratakis CA. Physics and power analysis of the movements of vehicles. J. Soc. Greek Physicists – Physicos Cosmos 84, 19–23 (1983).
  • Panitsa-Faflia C, Stratakis C, Androutsopoulou C, Batrinos M. Effect of ovarian suppression on testosterone and dehydroepiandrosterone sulfate levels in hirsutism. Adolesc. Pediatr. Gynecol. 3(2), 89–93 (1990).
  • Koutsilieris M, Stratakis CA. Regulatory mechanisms of growth hormone secretion. Materia Medica Graeca 15(6), 431–440 (1987).
  • Stratakis CA, Mastorakos G, Magiakou MA et al. 24-hour secretion of growth hormone (GH), insulin-like growth factors-I and -II (IGF-I, -II), prolactin (PRL) and thyrotropin (TSH) in young adults of normal and tall stature. Endocr. Res. 22(3), 261–276 (1996).
  • Stratakis CA, Demertzi E, Gerogiannis H, Zervas J. Diagnosis and treatment of Hodgkin’s disease in pregnancy. Hippokrates 2, 75–79 (1989).
  • Stratakis CA, Nakopoulou L, Theocharis S, Zervas J. Acute nephrotic syndrome as a manifestation of recurrent Hodgkin’s disease. Hippokrates 2, 391–396 (1989).
  • Hurley DM, Accili D, Stratakis CA et al. Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance. J. Clin. Invest. 87(2), 680–686 (1991).
  • Xekouki P, Stratakis CA. Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects? Endocr. Relat. Cancer doi:10.1530/ERC-12-0118 (2012) (Epub ahead of print).
  • Xekouki P, Pacak K, Almeida M et al. Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? J. Clin. Endocrinol. Metab. 97(3), E357–E366 (2012).
  • Stratakis CA, Tichomirowa MA, Boikos S et al. 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. Clin. Genet. 78(5), 457–463 (2010).
  • Stratakis CA. New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors. Mol. Cell. Endocrinol. 300(1–2), 152–157 (2009).
  • Kirschner LS, Carney JA, Pack SD et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat. Genet. 26(1), 89–92 (2000).
  • Gunther DF, Bourdeau I, Matyakhina L et al. Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? J. Clin. Endocrinol. Metab. 89(7), 3173–3182 (2004).
  • Stratakis CA, Boikos SA. Genetics of adrenal tumors associated with Cushing’s syndrome: a new classification for bilateral adrenocortical hyperplasias. Nat. Clin. Pract. Endocrinol. Metab. 3(11), 748–757 (2007).
  • Horvath A, Boikos S, Giatzakis C et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat. Genet. 38(7), 794–800 (2006).
  • Carney JA, Gaillard RC, Bertherat J, Stratakis CA. Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A). Am. J. Surg. Pathol. 34, 547–555 (2010).
  • Horvath A, Mericq V, Stratakis CA. Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N. Engl. J. Med. 358(7), 750–752 (2008).
  • Horvath A, Giatzakis C, Tsang K et al. 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. Eur. J. Hum. Genet. 16(10), 1245–1253 (2008).
  • Horvath A, Korde L, Greene MH et al. Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Res. 69(13), 5301–5306 (2009).
  • Faucz FR, Horvath A, Rothenbuhler A et al. Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer. J. Clin. Endocrinol. Metab. 96, E135–E140 (2011).
  • Tsai LC, Shimizu-Albergine M, Beavo JA. The high-affinity cAMP-specific phosphodiesterase 8B controls steroidogenesis in the mouse adrenal gland. Mol. Pharmacol. 79(4), 639–648 (2011).
  • Levy I, Horvath A, Azevedo M, de Alexandre RB, Stratakis CA. Phosphodiesterase function and endocrine cells: links to human disease and roles in tumor development and treatment. Curr. Opin. Pharmacol. 11(6), 689–697 (2011).
  • Matyakhina L, Freedman RJ, Bourdeau I et al. Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. J. Clin. Endocrinol. Metab. 90(6), 3773–3779 (2005).
  • Hsiao HP, Kirschner LS, Bourdeau I et al. Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors. J. Clin. Endocrinol. Metab. 94(8), 2930–2937 (2009).
  • Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney–Stratakis syndrome): molecular genetics and clinical implications. J. Intern. Med. 266(1), 43–52 (2009).
  • Lafferty AR, Torpy DJ, Stowasser M et al. A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). J. Med. Genet. 37(11), 831–835 (2000).
  • Xekouki P, Hatch MM, Lin L et al. KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn’s syndrome. Endocr. Relat. Cancer 19(3), 255–260 (2012).

Websites

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.