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

[Mutations of ACTH receptor gene and familial syndrome of glucocorticoid deficiency].

Annales d'endocrinologie - 1 Jan 1996

Naville D, Barjhoux L, Jaillard C, Faury D, Despert F, Esteva B, Durand P, Saez J, Begeot M

Abstract excerpt

Familial isolated glucocorticoid deficiency syndrome is characterized by low cortisol plasma levels despite high ACTH levels without any stimulation of steroid production after ACTH administration. However, the mineralocorticoid function is well-preserved in this syndrome which indicates a specific resistance to ACTH. Recent cloning of the ACTH receptor allowed to study this receptor in this particular syndrome....

Read the complete abstract on PubMed

Topics

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

Share to Gene Expression
Share to Glucocorticoids
Share to In Vitro Techniques

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

Share to Infant

Share to Infant, Newborn

Share to Mutation

Share to Receptors, Corticotropin

Share to Syndrome

Source

Identifiers

PMID: 8881288

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

[Mutations of ACTH receptor gene and familial syndrome of glucocorticoid deficiency].PMID 8881288Read ↗

[Familial glucocorticoid deficiency due to the ACTH receptor gene mutations].Semantic proximity Read ↗

[Adrenocorticotropin receptor in familial glucocorticoid deficiency].Semantic proximity Read ↗

[ACTH receptor, ACTH receptor anomaly, and familial glucocorticoid deficiency].Semantic proximity Read ↗

[ACTH resistance syndromes].Semantic proximity Read ↗

Functional characterization of the cloned human ACTH receptor: impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency.Semantic proximity Read ↗

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

Isolated glucocorticoid deficiency and ACTH receptor mutations.Semantic proximity Read ↗

ACTH resistance syndromes.Semantic proximity Read ↗

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.Semantic proximity Read ↗

[Syndrome of apparent mineralocorticoid excess caused by a deficiency of 11 beta-hydroxysteroid dehydrogenase: clinical and genetic study in a Chilean family followed for 19 years].Semantic proximity Read ↗

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