クッシング症候群 [DS:H01431]

Powell AC, Stratakis CA, Patronas NJ, Steinberg SM, Batista D, Alexander HR, Pingpank JF, Keil M, Bartlett DL, Libutti SK

Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia.

Surgery 143:750-8 (2008)
DOI:10.1016/j.surg.2008.03.022

Stratakis CA

Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin- independent Cushing syndrome).

Endocr Dev 13:117-32 (2008)
DOI:10.1159/000134829

Bourdeau I, Stratakis CA

Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease.

Ann N Y Acad Sci 968:240-55 (2002)
DOI:10.1111/j.1749-6632.2002.tb04339.x

Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.

J Clin Endocrinol Metab 87:4324-9 (2002)
DOI:10.1210/jc.2002-020592

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, Libe R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.

Nat Genet 38:794-800 (2006)
DOI:10.1038/ng1809

Horvath A, Mericq V, Stratakis CA

Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia.

N Engl J Med 358:750-2 (2008)
DOI:10.1056/NEJMc0706182

Beuschlein F, Fassnacht M, Assie G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

N Engl J Med 370:1019-28 (2014)
DOI:10.1056/NEJMoa1310359