Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.R477S
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NR3C1

NM_000176.3:p.R477S

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

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.

Yavas Abalı Z et al.

Frontiers in Endocrinology, 2024

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

Impaired 11β-Hydroxysteroid Dehydrogenase Type 2 in Glucocorticoid-Resistant Patients.

Vitellius G et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Bilateral adrenal hyperplasia and NR3C1 mutations causing glucocorticoid resistance: Is there an association?

Nicolaides NC et al.

European Journal of Endocrinology, 2018

Pathophysiology of Glucocorticoid Signaling.

Vitellius G et al.

Annales D'endocrinologie, 2018

Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study.

Vitellius G et al.

European Journal of Endocrinology, 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

A distinct modulating domain in glucocorticoid receptor monomers in the repression of activity of the transcription factor AP-1.

Heck S et al.

The Embo Journal, 1994

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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."