Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.R469*
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NR3C1

NM_000176.3:p.R469*

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

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

Effect of 3 NR3C1 Mutations in the Pathogenesis of Pituitary ACTH Adenoma.

Miao H et al.

Endocrinology, 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

Glucocorticoid Resistance.

Nicolaides NC et al.

Experientia Supplementum (2012), 2019

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

Nicolaides NC et al.

European Journal of Endocrinology, 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

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

Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess.

Bouligand J et al.

Plos One, 2010

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

Nicolaides N et al.

Hormones (athens, Greece), 0

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