Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.V575G
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NR3C1

NM_000176.3:p.V575G

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

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

A NOVEL GLUCOCORTICOID RECEPTOR MUTATION IN PRIMARY GENERALIZED GLUCOCORTICOID RESISTANCE DISEASE.

Ma L et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2020

GENETICS IN ENDOCRINOLOGY: Glucocorticoid resistance syndrome

Vitellius G et al.

European Journal of Endocrinology, 2020

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

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

Functional characterization of the hGRαT556I causing Chrousos syndrome.

Nicolaides NC et al.

European Journal of Clinical Investigation, 2016

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

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

Nicolaides N et al.

Hormones (athens, Greece), 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."