Genetics of ACTH insensitivity syndromes.
The last decade has seen remarkable progress in our understanding of the genetic causes of these potentially lethal conditions. Clearly, other genes that cause FGD remain to be discovered, and further work is required on the functions of MRAP and ALADIN in the expectation that they will provide insights into essential biological processes and perhaps identify key therapeutic strategies and targets for these diseases.
Clark
J L A
JL
Department of Endocrinology, William Harvey Research Institute, Barts & the London, Queen Mary, University of London, West Smithfield, London EC1A 7BE, UK. a.j.clark@qmul.ac.uk
Metherell
L A
LA
Naville
D
D
Begeot
M
M
Huebner
A
A
D000324:Adrenocorticotropic Hormone / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005938:Glucocorticoids / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D009154:Mutation; D013577:Syndrome
D005938:Glucocorticoids; D000324:Adrenocorticotropic Hormone