Article
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.
Science (New York, N.Y.) - 23 May 2014
Sato Yusuke, Maekawa Shigekatsu, Ishii Ryohei, Sanada Masashi, Morikawa Teppei, Shiraishi Yuichi, Yoshida Kenichi, Nagata Yasunobu, Sato-Otsubo Aiko, Yoshizato Tetsuichi, Suzuki Hiromichi, Shiozawa Yusuke, Kataoka Keisuke, Kon Ayana, Aoki Kosuke, Chiba Kenichi, Tanaka Hiroko, Kume Haruki, Miyano Satoru, Fukayama Masashi, Nureki Osamu, Homma Yukio, Ogawa Seishi
Abstract excerpt
Cushing's syndrome is caused by excess cortisol production from the adrenocortical gland. In corticotropin-independent Cushing's syndrome, the excess cortisol production is primarily attributed to an adrenocortical adenoma, in which the underlying molecular pathogenesis has been poorly understood. We report a hotspot mutation (L206R) in PRKACA, which encodes the catalytic subunit of cyclic adenosine monophosphate...
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