Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.T556I
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NR3C1

NM_000176.3:p.T556I

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

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

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

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

Primary generalized familial and sporadic glucocorticoid resistance (Chrousos syndrome) and hypersensitivity.

Charmandari E et al.

Endocrine Development, 2013

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