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• W2058943119 abstract "Adrenocorticotrophin (ACTH) insensitivity is a potentially lethal inherited disorder of ACTH signalling in the adrenal. Inactivating mutations of the ACTH receptor account for ∼25% of these cases. A second genetic cause for this syndrome has recently been identified in the MRAP gene. The MRAP protein appears to function in the trafficking and cell surface expression of the ACTH receptor, and might indicate the existence of more widespread G-protein-coupled receptor trafficking mechanisms. Molecular defects underlying other causes of ACTH insensitivity syndromes will probably contribute further to our understanding of these pathways. Adrenocorticotrophin (ACTH) insensitivity is a potentially lethal inherited disorder of ACTH signalling in the adrenal. Inactivating mutations of the ACTH receptor account for ∼25% of these cases. A second genetic cause for this syndrome has recently been identified in the MRAP gene. The MRAP protein appears to function in the trafficking and cell surface expression of the ACTH receptor, and might indicate the existence of more widespread G-protein-coupled receptor trafficking mechanisms. Molecular defects underlying other causes of ACTH insensitivity syndromes will probably contribute further to our understanding of these pathways." @default.
• W2058943119 created "2016-06-24" @default.
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• W2058943119 date "2005-12-01" @default.
• W2058943119 modified "2023-10-16" @default.
• W2058943119 title "Inherited ACTH insensitivity illuminates the mechanisms of ACTH action" @default.
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• W2058943119 doi "https://doi.org/10.1016/j.tem.2005.10.006" @default.
• W2058943119 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16271481" @default.
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