Cushing syndrome

[1]. Adriana Albani, et al. Genetics of Cushing's disease. Clin Endocrinol (Oxf). 2018 Jan;88(1):3-12. [Content Brief]

[2]. André Lacroix, et al. Cushing's syndrome. Lancet. 2015 Aug 29;386(9996):913-27. [Content Brief]

[3]. Andrew V Uzilov, et al. Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001602. [Content Brief]

[4]. Anelia Horvath, 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. [Content Brief]

[5]. Anelia Horvath, et al. Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N Engl J Med. 2008 Feb 14;358(7):750-2. [Content Brief]

[6]. Anne-Lise Lecoq, et al. Genetic mutations in sporadic pituitary adenomas--what to screen for?. Nat Rev Endocrinol. 2015 Jan;11(1):43-54. [Content Brief]

[7]. Audrey Robinson-White, et al. Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2. Hum Mol Genet. 2003 Jul 1;12(13):1475-84. [Content Brief]

[8]. E A Williamson, et al. G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. Eur J Clin Invest. 1995 Feb;25(2):128-31. [Content Brief]

[9]. Fabio R Faucz, et al. Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. J Clin Endocrinol Metab. 2014 Jun;99(6):E1113-9. [Content Brief]

[10]. Felix Beuschlein, et al. Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N Engl J Med. 2014 Mar 13;370(11):1019-28. [Content Brief]

[11]. Giampaolo Trivellin, et al. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014 Dec 18;371(25):2363-74. [Content Brief]

[12]. J-H Park, et al. Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. Clin Genet. 2003 Jul;64(1):48-53. [Content Brief]

[13]. Lionel Groussin, et al. Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. J Clin Endocrinol Metab. 2002 Sep;87(9):4324-9. [Content Brief]

[14]. Martin Reincke, et al. Mutations in the deubiquitinase gene USP8 cause Cushing's disease. Nat Genet. 2015 Jan;47(1):31-8. [Content Brief]

[15]. Natalia S Pellegata, et al. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci U S A. 2006 Oct 17;103(42):15558-63. [Content Brief]

[16]. Outi Vierimaa, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006 May 26;312(5777):1228-30. [Content Brief]

[17]. Qilin Zhang, et al. Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas. Am J Hum Genet. 2017 May 4;100(5):817-823. [Content Brief]