Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.R23K
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NR3C1

NM_000176.3:p.R23K

Associated Papers

The human glucocorticoid receptor variant rs6190 increases blood cholesterol and promotes atherosclerosis.

Durumutla HB et al.

The Journal of Clinical Investigation, 2025

The human genetic variant rs6190 unveils Foxc1 and Arid5a as novel prometabolic targets of the glucocorticoid receptor in muscle.

Prabakaran AD et al.

Science Advances, 2025

The human glucocorticoid receptor variant rs6190 increases blood cholesterol and promotes atherosclerosis.

Durumutla HB et al.

Biorxiv : the Preprint Server for Biology, 2025

The human genetic variant rs6190 unveils Foxc1 and Arid5a as novel pro-metabolic targets of the glucocorticoid receptor in muscle.

Prabakaran AD et al.

Biorxiv : the Preprint Server for Biology, 2025

Genetic variants in patients with multiple arterial aneurysms.

Körfer D et al.

Langenbeck's Archives of Surgery, 2024

39382597 (PubMed )
Supplement: 423_2024_3488_MOESM2_ESM.xlsx › Supplemental_Table_2

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

Kolb KL et al.

Genes, 2023

NGS study of glucocorticoid response genes in inflammatory bowel disease patients.

Skrzypczak-Zielinska M et al.

Archives of Medical Science : Ams, 2021

Uncovering a multitude of human glucocorticoid receptor variants: an expansive survey of a single gene.

Leventhal SM et al.

Bmc Genetics, 2019

The Associations of PMF1, ICAM1, AGT, TRIM65, FBF1, and ACOX1 Variants With Leukoaraiosis in Chinese Population.

Huang WQ et al.

Frontiers in Genetics, 2019

31396257 (PubMed )
Supplement: Table_1.xlsx › 28_SNPs

Glucocorticoid Receptor Mutations and Hypersensitivity to Endogenous and Exogenous Glucocorticoids.

Santen RJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

A polymorphism in the glucocorticoid receptor gene is associated with refractory hypotension in premature infants.

Ogasawara K et al.

Pediatrics and Neonatology, 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

Correlation between polymorphisms of the NR3C1 gene and glucocorticoid effectiveness in patients with pemphigus vulgaris.

Fang SY et al.

Scientific Reports, 2017

Donor Genotype and Intragraft Expression of CYP3A5 Reflect the Response to Steroid Treatment During Acute Renal Allograft Rejection.

Rekers NV et al.

Transplantation, 2017

Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol.

Franca R et al.

The Pharmacogenomics Journal, 2017

Glucocorticoid Receptor Gene Variants and Neonatal Outcome in Very-Low-Birth-Weight Preterm Infants.

Schreiner C et al.

Neonatology, 2017

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Glucocorticoid receptor variants in childhood attention-deficit/hyperactivity disorder and comorbid psychiatric disorders.

Schote AB et al.

Psychiatry Research, 2016

Healthy glucocorticoid receptor N363S carriers dysregulate gene expression associated with metabolic syndrome.

Jewell CM et al.

American Journal of Physiology. Endocrinology and Metabolism, 2016

Influence of BclI C/G (rs41423247) on hippocampal shape and white matter integrity of the parahippocampal cingulum in major depressive disorder.

Won E et al.

Psychoneuroendocrinology, 2016

The role of the glucocorticoid receptor gene (NR3C1) for the processing of aversive stimuli.

Schneider KK et al.

Neuroscience Research, 2016

The cardiovascular and hypothalamus-pituitary-adrenal axis response to stress is controlled by glucocorticoid receptor sequence variants and promoter methylation.

Li-Tempel T et al.

Clinical Epigenetics, 2016

Analysis of BCLI, N363S and ER22/23EK Polymorphisms of the Glucocorticoid Receptor Gene in Adrenal Incidentalomas.

Reimondo G et al.

Plos One, 2016

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

Zhao F et al.

Pharmacogenetics and Genomics, 2015

Antenatal glucocorticoid treatment and polymorphisms of the glucocorticoid and mineralocorticoid receptors are associated with IQ and behavior in young adults born very preterm.

van der Voorn B et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Glucocorticoid receptor polymorphisms and haplotypes and their expression in health and disease.

Koper JW et al.

Steroids, 2014

Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.

Sun HY et al.

Journal of Chemical Information and Modeling, 2013

24304102 (PubMed )
Supplement: ci400457v_si_001.xls › Sheet1

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

Exploring the molecular mechanisms of glucocorticoid receptor action from sensitivity to resistance.

Ramamoorthy S et al.

Endocrine Development, 2013

Glucocorticoid receptor mRNA and protein isoform alterations in the orbitofrontal cortex in schizophrenia and bipolar disorder.

Sinclair D et al.

Bmc Psychiatry, 2012

Glucocorticoid receptor 1B and 1C mRNA transcript alterations in schizophrenia and bipolar disorder, and their possible regulation by GR gene variants.

Sinclair D et al.

Plos One, 2012

Glucocorticoid receptor polymorphism is associated with major depression and predominance of depression in the course of bipolar disorder.

Szczepankiewicz A et al.

Journal of Affective Disorders, 2011

A genetic predisposition score for muscular endophenotypes predicts the increase in aerobic power after training: the CAREGENE study.

Thomaes T et al.

Bmc Genetics, 2011

Genetic polymorphisms of the glucocorticoid receptor may affect the phenotype of women with anovulatory polycystic ovary syndrome.

Valkenburg O et al.

Human Reproduction (oxford, England), 2011

Abdominal fat accumulation in adults born preterm exposed antenatally to maternal glucocorticoid treatment is dependent on glucocorticoid receptor gene variation.

Finken MJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Transcriptional control of the human glucocorticoid receptor: identification and analysis of alternative promoter regions.

Cao-Lei L et al.

Human Genetics, 2011

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Wang W et al.

Nucleic Acids Research, 2011

20843780 (PubMed )
Supplement: supp_gkq750_NAR-WangWetal-SuppTable-6.xls › gene_snp_analysis4

Glucocorticoid receptor gene haplotype structure and steroid therapy outcome in IBD patients.

Mwinyi J et al.

World Journal of Gastroenterology, 2010

Polymorphisms in glucocorticoid receptor gene and the outcome of childhood acute lymphoblastic leukemia (ALL).

Labuda M et al.

Leukemia Research, 2010

Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study.

Geelhoed MJ et al.

Bmc Medical Genetics, 2010

Glucocorticoid receptor polymorphisms in major depression.

Claes S

Annals of the New York Academy of Sciences, 2009

IL-10 and TNF-alpha promoter haplotypes are associated with childhood Crohn's disease location.

Sanchez R et al.

World Journal of Gastroenterology, 2009

Human glucocorticoid receptor alpha gene (NR3C1) pharmacogenomics: gene resequencing and functional genomics.

Niu N et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Characterization of a glucocorticoid receptor gene (GR, NR3C1) promoter polymorphism reveals functionality and extends a haplotype with putative clinical relevance.

Kumsta R et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2009

Functional glucocorticoid receptor gene variants do not underlie the high variability of 17-hydroxyprogesterone screening values in healthy newborns.

Schreiner F et al.

European Journal of Endocrinology, 2009

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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."