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
[Association of the structure of the glucocorticoid receptor and single nucleotide NR3C1 gene polymorphisms with metabolic disorders].
Brovkina SS et al.
Problemy Endokrinologii, 2023
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
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.
Nicolaides NC et al.
Experientia Supplementum (2012), 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
A novel human glucocorticoid receptor SNP results in increased transactivation potential.
Green TL et al.
Biochemistry and Biophysics Reports, 2017
Structural Analysis on the Pathologic Mutant Glucocorticoid Receptor Ligand-Binding Domains.
Hurt DE et al.
Molecular Endocrinology (baltimore, Md.), 2016
Functional characterization of the hGRαT556I causing Chrousos syndrome.
Nicolaides NC et al.
European Journal of Clinical Investigation, 2016
A novel mutation of the hGR gene causing Chrousos syndrome.
Nicolaides NC et al.
European Journal of Clinical Investigation, 2015
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
A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities.
Nicolaides NC et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Glucocorticoid sensitivity in health and disease.
Quax RA et al.
Nature Reviews. Endocrinology, 2013
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Further characterization of human glucocorticoid receptor mutants, R477H and G679S, associated with primary generalized glucocorticoid resistance.
Ruiz M et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2013
A novel point mutation in the DNA-binding domain (DBD) of the human glucocorticoid receptor causes primary generalized glucocorticoid resistance by disrupting the hydrophobic structure of its DBD.
Roberts ML et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.
Trebble P et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Human glucocorticoid receptor alpha gene (NR3C1) pharmacogenomics: gene resequencing and functional genomics.
Niu N et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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
A novel point mutation in the amino terminal domain of the human glucocorticoid receptor (hGR) gene enhancing hGR-mediated gene expression.
Charmandari E et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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
Genotype-phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism.
Raef H et al.
European Journal of Endocrinology, 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
Genetic variations in the glucocorticoid receptor gene are not related to glucocorticoid resistance in childhood acute lymphoblastic leukemia.
Tissing WJ et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
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
Glucocorticoid receptor variants: clinical implications.
DeRijk RH et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2002
Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.
Ruiz M et al.
Clinical Endocrinology, 2001
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