Associated Papers
The multimerization pathway of the glucocorticoid receptor.
Alegre-Martí A et al.
Nucleic Acids Research, 2025
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
Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.
Yavas Abalı Z et al.
Frontiers in Endocrinology, 2024
Functional and Structural Impact of Deleterious Missense Single Nucleotide Polymorphisms in the NR3C1, CYP3A5, and TNF-α Genes: An In Silico Analysis.
Ramayanam NR et al.
Biomolecules, 2022
Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia.
Verouti S et al.
Pflugers Archiv : European Journal of Physiology, 2022
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance.
Paragliola RM et al.
Molecular Diagnosis & Therapy, 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
Single Nucleotide Variations of the Human GR Gene Manifested as Pathologic Mutations or Polymorphisms.
Kino T
Endocrinology, 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
Structural Analysis on the Pathologic Mutant Glucocorticoid Receptor Ligand-Binding Domains.
Hurt DE et al.
Molecular Endocrinology (baltimore, Md.), 2016
Chrousos syndrome: from molecular pathogenesis to therapeutic management.
Nicolaides NC et al.
European Journal of Clinical Investigation, 2015
Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1.
Donner KM et al.
European Journal of Endocrinology, 2013
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
Chrousos syndrome: a seminal report, a phylogenetic enigma and the clinical implications of glucocorticoid signalling changes.
Charmandari E et al.
European Journal of Clinical Investigation, 2010
The human glucocorticoid receptor: molecular basis of biologic function.
Nicolaides NC et al.
Steroids, 2010
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
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
Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms.
Charmandari E et al.
Annals of the New York Academy of Sciences, 2004
Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: molecular genotype, genetic transmission, and clinical phenotype.
Charmandari E et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.
Bray PJ et al.
Human Mutation, 2003
Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.
Mendonca BB et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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