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

Three Novel Heterozygous Point Mutations ofNR3C1Causing Glucocorticoid Resistance

27 Apr 2016

Abstract excerpt

Generalized glucocorticoid resistance is associated with glucocorticoid receptor (GR; NR3C1) mutations. Three novel heterozygous missense NR3C1 mutations (R477S, Y478C, and L672P) were identified in patients presenting with adrenal incidentalomas, glucocorticoid excess without Cushing syndrome. Dexamethasone (DXM) binding studies demonstrated that the affinity of GRR477S and GRY478C mutants, located in the...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hormones and Disorders
Share to Estrogen and related hormone effects
Share to Hormonal Regulation and Hypertension

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 27120390
DOI: 10.1002/humu.23008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Three Novel Heterozygous Point Mutations ofNR3C1Causing Glucocorticoid ResistancePMID 27120390Read ↗

GENETICS IN ENDOCRINOLOGY: Glucocorticoid resistance syndromeSemantic proximity Read ↗

A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance.Semantic proximity Read ↗

A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance.Semantic proximity Read ↗

Pathophysiology of Glucocorticoid Signaling.Semantic proximity Read ↗

Chrousos syndrome: from molecular pathogenesis to therapeutic management.Semantic proximity Read ↗

A Novel <scp> <i>NR3C1</i> </scp> Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural ModelingSemantic proximity Read ↗

Glucocorticoid Resistance Syndrome: A Systematic Review of the Genotypes, Phenotypes, and Their Relationships.Semantic proximity Read ↗

Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.Semantic proximity Read ↗

Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1Semantic proximity Read ↗

Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1).Semantic proximity Read ↗

A Novel Patient-Derived Mutation in Glucocorticoid Receptor Reveals an Essential Role for DNA binding in Development and Endocrine RegulationSemantic proximity Read ↗

A novel mutation of the hGR gene causing Chrousos syndrome.Semantic proximity Read ↗

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