In:
Science, American Association for the Advancement of Science (AAAS), Vol. 344, No. 6186 ( 2014-05-23), p. 917-920
Abstract:
Cushing's syndrome is a rare condition resulting from the excess production of cortisol. About 15% of Cushing's syndrome cases are associated with an adrenocortical tumor. However, the genetic etiology of these adrenocortical tumors is ill defined (see the Perspective by Kirschner). Cao et al. and Sato et al. both performed whole-exome sequencing of tumors from individuals with adrenal Cushing's syndrome and compared it with the patient's own matched non-tumor DNA and identified recurrent mutations in the protein kinase A catalytic subunit alpha ( PRKACA ) gene, as well as less frequent mutations in other putative pathological genes. The most common recurrent mutation activated the kinase, which may suggest a potential therapeutic target. Science , this issue p. 913 , p. 917 ; see also p. 804
Type of Medium:
Online Resource
ISSN:
0036-8075
,
1095-9203
DOI:
10.1126/science.1252328
Language:
English
Publisher:
American Association for the Advancement of Science (AAAS)
Publication Date:
2014
detail.hit.zdb_id:
128410-1
detail.hit.zdb_id:
2066996-3
detail.hit.zdb_id:
2060783-0
SSG:
11
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