Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.F737L
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NR3C1

NM_000176.3:p.F737L

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

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

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

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

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

Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.

Briassoulis G et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

Glucocorticoid resistance.

van Rossum EFC et al.

Endocrine Development, 2011

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

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

A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.

Charmandari E et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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

Nicolaides N et al.

Hormones (athens, Greece), 0

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