A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance

M Laulhé, E Kuhn, J Bouligand, L Amazit… - European Journal of …, 2024 - academic.oup.com
… the ligand-binding domain of the glucocorticoid receptor (GR), … The gene-specific impact of
GR variants has been described … Our functional studies support the critical role of H3 and the …

A novel pathogenic variant in the N-terminal domain of the glucocorticoid receptor, causing glucocorticoid resistance

RM Paragliola, A Costella, A Corsello, A Urbani… - Molecular diagnosis & …, 2020 - Springer
… [9,10,11,12]; the DNA-binding domain (DBD), corresponding to amino acids 420–480 and
containing two zinc finger motifs enabling the receptor to bind to specific DNA sequences [the …

Glucocorticoid receptor gene (NR3C1) polymorphisms and haplotypes in patients with congenital adrenal hyperplasia

TR Villela, CB Barra, AR Belisário, MR Luizon… - Molecular and Cellular …, 2021 - Elsevier
… a role for single nucleotide polymorphisms (SNPs) of the … common haplotypes contained the
Tth111I-variant. Although we found no … The gene location of the studied SNPs, their specific

Glucocorticoid Receptor Gene (NR3C1) Polymorphisms and Metabolic Syndrome: Insights from the Mennonite Population

KL Kolb, ALS Mira, ED Auer, IDO Bucco… - Genes, 2023 - mdpi.com
… to GR-mediated negative feedback, highlighting the potential role of the dysregulation of this
… , selecting the variants located in the NR3C1 gene after filtering with the VEP (Variant Effect …

The Glucocorticoid Receptor Gene (NR3C1) 9β SNP Is Associated with Posttraumatic Stress Disorder

I Castro-Vale, C Durães, EFC van Rossum… - Healthcare, 2021 - mdpi.com
glucocorticoid receptor (GR) number [2,3]. However, lower levels of cortisol have mainly been
found in specific populations and at specific … of the GRβ splice variant is low for cells other …

The clinical significance of the glucocorticoid receptors: Genetics and epigenetics

R Motavalli, T Majidi, T Pourlak, S Abediazar… - The Journal of Steroid …, 2021 - Elsevier
… between the genetic and epigenetic variants of the NR3C1 gene in … The role of the NR3C1
gene in SLE has been studied. Yang-… and methylation at specific regions of the GR gene is …

NR3C1 Glucocorticoid Receptor Gene Polymorphisms Are Associated with Membranous and IgA Nephropathies

M Pac, N Krata, B Moszczuk, A Wyczałkowska-Tomasik… - Cells, 2021 - mdpi.com
… outcomes is the NR3C1 gene, in particular, its variants. … in differences in predisposition to
certain immune-mediated … patients, what might suggest the possible role of minor C allele in MN…

Genetics in endocrinology: glucocorticoid resistance syndrome

G Vitellius, M Lombes - European journal of endocrinology, 2020 - academic.oup.com
… the glucocorticoid receptor (GR, encoded by NR3C1 gene in … 7.9% of NR3C1 variants (44)
with one new GR variant, N454S… NR3C1 genetic screening should be performed in selected

Polymorphism of the glucocorticoid receptor gene (NR3C1) in chronic illnesses: a protocol of a scoping review

Y Sguassero, G Gallucci, O Bottasso - medRxiv, 2020 - medrxiv.org
… Many studies point out to an influential role of the interaction between immune and …
SNPs in the GR receptor gene, and its potential relationship with a certain chronic condition. …

The interplay between genetic variation and gene expression of the glucocorticoid receptor gene NR3C1 and blood cortisol levels on verbal memory and …

S Van der Auwera, J Klinger-König, K Wittfeld… - European Archives of …, 2022 - Springer
… El-Hage and colleagues [10] found that genetic variants in NR3C1 … to explore the role of the
glucocorticoid cortisol on this path. … For NR3C1 and NR3C2 we selected the transcript whose …