Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.

The Journal of clinical endocrinology and metabolism - 1 Sept 2002

Flück Christa E, Martens John W M, Conte Felix A, Miller Walter L

Abstract excerpt

The ACTH receptor (MC2R) is expressed predominantly in the adrenal cortex, but is one of five G protein-coupled, seven-transmembrane melanocortin receptors (MCRs), all of which bind ACTH to some degree. Testing of MC2R activity is difficult because most cells express endogenous MCRs; hence, ACTH will elicit background activation of assayable reporter systems. Inactivating mutations of MC2R lead to hereditary...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to California

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Consanguinity

Share to DNA Primers

Share to Hispanic or Latino

Share to Mutagenesis, Site-Directed

Share to Receptors, Corticotropin

Share to White People

Source

Identifiers

PMID: 12213892
DOI: 10.1210/jc.2002-020501

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.PMID 12213892Read ↗

The genetics of ACTH resistance syndromes.Semantic proximity Read ↗

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 SurfaceSemantic proximity Read ↗

Novel Mutations in the MC2R Gene in a Patient With Familial Glucocorticoid Deficiency (FGD): A Case Report and Functional Study.Semantic proximity Read ↗

Bioinactive ACTH causing glucocorticoid deficiency.Semantic proximity Read ↗

Molecular identification of the human melanocortin-2 receptor responsible for ligand binding and signaling.Semantic proximity Read ↗

Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity.Semantic proximity Read ↗

Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.Semantic proximity Read ↗

Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency.Semantic proximity Read ↗

Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2Semantic proximity Read ↗

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.Semantic proximity Read ↗

A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency.Semantic proximity Read ↗

Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.