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Article

Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity.

Molecular endocrinology (Baltimore, Md.) - 1 Dec 2002

Swords Francesca M, Baig Asma, Malchoff Diana M, Malchoff Carl D, Thorner Michael O, King Peter J, Hunyady László, Clark Adrian J L

Abstract excerpt

A naturally occurring ACTH receptor [melanocortin 2 receptor (MC2R)] mutation (F278C) has been identified in a subject with ACTH-independent Cushing's syndrome. Functional characterization of this mutant receptor reveals that it is associated with elevated basal cAMP accumulation when compared with wild-type receptor-expressing cell lines. Dose responsiveness is similar between wild-type and mutant receptors in...

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Source

Identifiers

PMID: 12456795
DOI: 10.1210/me.2002-0099

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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