Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.L773P
Back to variants list

NR3C1

NM_000176.3:p.L773P

Associated Papers

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

Wang S et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2025

Glucocorticoid resistance conferring mutation in the C-terminus of GR alters the receptor conformational dynamics.

Kaziales A et al.

Scientific Reports, 2021

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

Paragliola RM et al.

Molecular Diagnosis & Therapy, 2020

GENETICS IN ENDOCRINOLOGY: Glucocorticoid resistance syndrome

Vitellius G et al.

European Journal of Endocrinology, 2020

Deciphering the structural basis for glucocorticoid resistance caused by missense mutations in the ligand binding domain of glucocorticoid receptor.

Monteiro LLS et al.

Journal of Molecular Graphics & Modelling, 2019

Functional characterization of canine wild type glucocorticoid receptor and an insertional mutation in a dog.

Yamanaka K et al.

Bmc Veterinary Research, 2019

Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation.

Al Argan R et al.

Endocrine Journal, 2018

Pathophysiology of Glucocorticoid Signaling.

Vitellius G et al.

Annales D'endocrinologie, 2018

An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature.

Molnár Á et al.

Bmc Medical Genetics, 2018

Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes.

Nicolaides NC et al.

Hormones (athens, Greece), 2017

Chrousos syndrome: from molecular pathogenesis to therapeutic management.

Nicolaides NC et al.

European Journal of Clinical Investigation, 2015

Exploring the molecular mechanisms of glucocorticoid receptor action from sensitivity to resistance.

Ramamoorthy S et al.

Endocrine Development, 2013

Primary generalized familial and sporadic glucocorticoid resistance (Chrousos syndrome) and hypersensitivity.

Charmandari E et al.

Endocrine Development, 2013

The N363S and I559N single nucleotide polymorphisms of the h-GR/NR3C1 gene in patients with bronchial asthma.

Panek M et al.

International Journal of Molecular Medicine, 2012

Glucocorticoid resistance.

van Rossum EFC et al.

Endocrine Development, 2011

Identification of natural human glucocorticoid receptor (hGR) mutations or polymorphisms and their functional consequences at the hormone-receptor interaction level.

Charmandari E et al.

Methods in Molecular Biology (clifton, N.j.), 2009

Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder.

Charmandari E et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Glucocorticoid resistance.

Orbak Z

Biochemistry. Biokhimiia, 2006

Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance.

Charmandari E et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: the importance of the C terminus of hGR LBD in conferring transactivational activity.

Charmandari E et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

The human glucocorticoid receptor (hGR) beta isoform suppresses the transcriptional activity of hGRalpha by interfering with formation of active coactivator complexes.

Charmandari E et al.

Molecular Endocrinology (baltimore, Md.), 2005

Glucocorticoid receptor mutants demonstrate increased motility inside the nucleus of living cells: time of fluorescence recovery after photobleaching (FRAP) is an integrated measure of receptor function.

Kino T et al.

Molecular Medicine (cambridge, Mass.), 0

Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance.

Nicolaides N et al.

Hormones (athens, Greece), 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."