Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.V729I
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NR3C1

NM_000176.3:p.V729I

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

Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia.

Verouti S et al.

Pflugers Archiv : European Journal of Physiology, 2022

The clinical significance of the glucocorticoid receptors: Genetics and epigenetics.

Motavalli R et al.

The Journal of Steroid Biochemistry and Molecular Biology, 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

Functional characterization of canine wild type glucocorticoid receptor and an insertional mutation in a dog.

Yamanaka K et al.

Bmc Veterinary Research, 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

Association of the glucocorticoid receptor D641V variant with steroid-resistant asthma: a case-control study.

Zhao F et al.

Pharmacogenetics and Genomics, 2015

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

Glucocorticoid resistance.

van Rossum EFC et al.

Endocrine Development, 2011

The human glucocorticoid receptor: molecular basis of biologic function.

Nicolaides NC et al.

Steroids, 2010

Identification of natural human glucocorticoid receptor (hGR) mutations or polymorphisms and their functional consequences at the hormone-receptor interaction level.

Charmandari E et al.

Methods in Molecular Biology (clifton, N.j.), 2009

Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder.

Charmandari E et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Glucocorticoid resistance.

Orbak Z

Biochemistry. Biokhimiia, 2006

Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms.

Charmandari E et al.

Annals of the New York Academy of Sciences, 2004

Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: molecular genotype, genetic transmission, and clinical phenotype.

Charmandari E et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.

Bray PJ et al.

Human Mutation, 2003

Tissue glucocorticoid resistance/hypersensitivity syndromes.

Kino T et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2003

Crystal structure of the glucocorticoid receptor ligand binding domain reveals a novel mode of receptor dimerization and coactivator recognition.

Bledsoe RK et al.

Cell, 2002

Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.

Ruiz M et al.

Clinical Endocrinology, 2001

Five missense variants in the amino-terminal domain of the glucocorticoid receptor: no association with puerperal psychosis or schizophrenia.

Feng J et al.

American Journal of Medical Genetics, 2000

Differential hormone-dependent transcriptional activation and -repression by naturally occurring human glucocorticoid receptor variants.

de Lange P et al.

Molecular Endocrinology (baltimore, Md.), 1997

Glucocorticoid receptor mutants demonstrate increased motility inside the nucleus of living cells: time of fluorescence recovery after photobleaching (FRAP) is an integrated measure of receptor function.

Kino T et al.

Molecular Medicine (cambridge, Mass.), 0

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

Nicolaides N et al.

Hormones (athens, Greece), 0

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