In the year 2015, the Endocrine Society named a total of 15 advances as the top discoveries of the year; SEGEN led the research in two (PRKACA and GPR101 in Cushing syndrome and pituitary gigantism/acromegaly, respectively) and was involved in one (the USP8 gene in Cushing disease). Almost every year recently, SEGEN work is included in at least one of the top discoveries of the respective year as listed by the Endocrine Society or the Yearbook of Pediatric Endocrinology. Our research findings were covered by Nature, Science and other publications (see Science 23 May 2014:344;804; other). Every year since 2012, SEGEN has had at least one article in New England Journal of Medicine (NEJM) describing a new gene and/or disease. Here is a select list of publications from our Lab:
- 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. (PMID 10973256)
- 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. 2006 Jul;38(7):794-800. (PMID 16767104)
- Beuschlein F*, Fassnacht M*, Assié G*, et al. Constitutive activation of PRKACA in adrenal Cushing's syndrome. N Engl J Med. 370(11):1019-28, 2014. *first authors with equal contribution (PMC 4727447)
- Xekouki P, Szarek E, Bullova P, et al. Pituitary adenoma with paraganglioma / pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. J Clin Endocrinol Metab. 100(5):E710-9, 2015. (PMC 4422891)
- Trivellin G, Daly AF, Faucz FR, et al. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 371(25):2363-74, 2014. (PMC 4291174)
Dr Stratakis' full bibliography is available at My NCBI Collections.