Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.R714Q
Back to variants list

NR3C1

NM_000176.3:p.R714Q

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

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

Therapy-induced mutations drive the genomic landscape of relapsed acute lymphoblastic leukemia.

Li B et al.

Blood, 2020

Dexamethasone, cortisol and glucocorticoid receptor mutations.

Funder JW

Journal of Hypertension, 2019

A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy.

Tatsi C et al.

Journal of Hypertension, 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

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

Chrousos syndrome: from molecular pathogenesis to therapeutic management.

Nicolaides NC et al.

European Journal of Clinical Investigation, 2015

Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1.

Donner KM et al.

European Journal of Endocrinology, 2013

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

Charmandari E et al.

Endocrine Development, 2013

Glucocorticoid resistance.

van Rossum EFC et al.

Endocrine Development, 2011

A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.

Nader N et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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

Nicolaides N et al.

Hormones (athens, Greece), 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."