The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.

Chung, T T; Webb, T R; Chan, L F; Cooray, S N; Metherell, L A; King, P J; Chapple, J P; Clark, A J L

Chung, T T; Webb, T R; Chan, L F; Cooray, S N; Metherell, L A; King, P J; Chapple, J P; Clark, A J L.

Affiliation

Chung TT; Centre for Endocrinology, William Harvey Research Institute, Barts, London EC1M 6BQ, United Kingdom.

J Clin Endocrinol Metab ; 93(12): 4948-54, 2008 Dec.

Article in En | MEDLINE | ID: mdl-18840636

Subject(s)

Glucocorticoids/deficiency; Receptor, Melanocortin, Type 2/genetics; Receptors, Cell Surface/genetics; Animals; Blotting, Western; CHO Cells; Cell Line; Cricetinae; Cricetulus; Cyclic AMP/physiology; Genes, Reporter/genetics; Humans; Immunoprecipitation; LDL-Receptor Related Protein-Associated Protein/genetics; Ligands; Microscopy, Confocal; Mutagenesis, Site-Directed; Mutation, Missense/genetics; Signal Transduction/physiology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Cell Surface / Receptor, Melanocortin, Type 2 / Glucocorticoids Limits: Animals / Humans Language: En Journal: J Clin Endocrinol Metab Year: 2008 Type: Article Affiliation country: United kingdom

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