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
A novel nonsense mutation of the glucocorticoid receptor gene causing glucocorticoid resistance with infertility.
Lei J et al.
Endocrine, 2025
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
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
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
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
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes.
Nicolaides NC et al.
Hormones (athens, Greece), 2017
Association of the glucocorticoid receptor D641V variant with steroid-resistant asthma: a case-control study.
Zhao F et al.
Pharmacogenetics and Genomics, 2015
Chrousos syndrome: from molecular pathogenesis to therapeutic management.
Nicolaides NC et al.
European Journal of Clinical Investigation, 2015
Comprehensive overview of the structure and regulation of the glucocorticoid receptor.
Vandevyver S et al.
Endocrine Reviews, 2014
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
Strategies for the characterization of disorders in cortisol sensitivity.
Russcher H et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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
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
Functional analysis of three genetic polymorphisms in the glucocorticoid receptor gene.
Koyano S et al.
The Journal of Pharmacology and Experimental Therapeutics, 2003
Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.
Bray PJ et al.
Human Mutation, 2003
Tissue glucocorticoid resistance/hypersensitivity syndromes.
Kino T et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2003
Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking.
Kino T et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.
Ruiz M et al.
Clinical Endocrinology, 2001
Five missense variants in the amino-terminal domain of the glucocorticoid receptor: no association with puerperal psychosis or schizophrenia.
Feng J et al.
American Journal of Medical Genetics, 2000
Differential hormone-dependent transcriptional activation and -repression by naturally occurring human glucocorticoid receptor variants.
de Lange P et al.
Molecular Endocrinology (baltimore, Md.), 1997