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
Salt-sensitive hypertension in GR mutant rats is associated with altered plasma polyunsaturated fatty acid levels and aortic vascular reactivity.
Verouti S et al.
Pflugers Archiv : European Journal of Physiology, 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
Association Between NR3C1 Mutations and Glucocorticoid Resistance in Children With Acute Lymphoblastic Leukemia.
Liu H et al.
Frontiers in Pharmacology, 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
Therapy-induced mutations drive the genomic landscape of relapsed acute lymphoblastic leukemia.
Li B et al.
Blood, 2020
Functional characterization of canine wild type glucocorticoid receptor and an insertional mutation in a dog.
Yamanaka K et al.
Bmc Veterinary Research, 2019
Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease.
Jiménez-Panizo A et al.
Endocrine-related Cancer, 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
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
Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.
Vitellius G et al.
Human Mutation, 2016
Genetic alterations in glucocorticoid signaling pathway components are associated with adverse prognosis in children with relapsed ETV6/RUNX1-positive acute lymphoblastic leukemia.
Grausenburger R et al.
Leukemia & Lymphoma, 2016
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
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
Glucocorticoid receptor concentration and the ability to dimerize influence nuclear translocation and distribution.
Robertson S et al.
Steroids, 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
Glycogen synthase kinase-3β is involved in ligand-dependent activation of transcription and cellular localization of the glucocorticoid receptor.
Rubio-Patiño C et al.
Molecular Endocrinology (baltimore, Md.), 2012
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
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
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
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
Glucocorticoid receptor heterozygosity combined with lack of receptor auto-induction causes glucocorticoid resistance in Jurkat acute lymphoblastic leukemia cells.
Riml S et al.
Cell Death and Differentiation, 2004
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