Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.N363S
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NR3C1

NM_000176.3:p.N363S

Associated Papers

Characterization of a Novel Variant in the NR3C1 Gene: Differentiating Glucocorticoid Resistance From Cushing Syndrome.

Laulhé M et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

NR3C1 variants and glucocorticoid response in childhood nephrotic syndrome in North India.

Paranthaman S et al.

Bmc Nephrology, 2025

Genetic association between glucocorticoid receptor gene Bcl1 rs41423247 and rs6198 polymorphisms and risk of obesity in Egyptian children : By.

Salem NA et al.

Scientific Reports, 2025

Genetic and epigenetic changes to the glucocorticoid receptor gene (NR3C1) and cognition in major depressive disorder.

Ferrer A et al.

Spanish Journal of Psychiatry and Mental Health, 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

Perinatal glucocorticoid sensitivity in the preterm newborn: molecular mechanisms, endogenous determinants, and clinical implications.

Anti NAO et al.

Frontiers in Endocrinology, 2025

Glucocorticoid receptor polymorphisms and bone mineral density in patients receiving conventional glucocorticoid replacement.

Fichna M et al.

Endokrynologia Polska, 2025

Gene variants of glucocorticoid activation pathways and the outcomes of patients with Takayasu arteritis - a retrospective cohort study.

Peron Filho F et al.

Frontiers in Immunology, 2025

Cortisol, Stress, and Disease-Bidirectional Associations; Role for Corticosteroid-Binding Globulin?

Lee JH et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

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

Laulhé M et al.

European Journal of Endocrinology, 2024

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

Kolb KL et al.

Genes, 2023

Advances in Dystrophinopathy Diagnosis and Therapy.

Saad FA et al.

Biomolecules, 2023

Pharmacogenomics of Old and New Immunosuppressive Drugs for Precision Medicine in Kidney Transplantation.

Turolo S et al.

Journal of Clinical Medicine, 2023

Glucocorticoid receptor polymorphism BclI with increased glucocorticoid sensitivity has a positive influence on quality of life in endogenous Cushing's syndrome in remission.

Feldkamp L et al.

European Journal of Endocrinology, 2023

Genetic polymorphisms of glucocorticoid receptor and their association with new-onset diabetes mellitus in kidney transplant recipients.

Azadi S et al.

Gene, 2023

Glucocorticoid Receptor Polymorphisms and Avascular Osteonecrosis After Kidney Transplantation.

Etemadi J et al.

Iranian Journal of Kidney Diseases, 2023

[Association of the structure of the glucocorticoid receptor and single nucleotide NR3C1 gene polymorphisms with metabolic disorders].

Brovkina SS et al.

Problemy Endokrinologii, 2023

Glucocorticoid receptor (NR3C1) genetic polymorphisms and the outcomes of sudden sensorineural hearing loss.

Chien CY et al.

Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 2023

Genetic glucocorticoid receptor variants differ between ethnic groups but do not explain variation in age of diabetes onset, metabolic and inflammation parameters in patients with type 2 diabetes.

Ahdi M et al.

Frontiers in Endocrinology, 2023

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

Association analysis of BclI with benign lymphoepithelial lesions of the lacrimal gland and glucocorticoids resistance.

Zhang XJ et al.

International Journal of Ophthalmology, 2023

Two cases of infantile-onset primary generalized glucocorticoid hypersensitivity and the effect of mifepristone.

Zhao X et al.

Bmc Pediatrics, 2022

A patient with glucocorticoid hypersensitivity syndrome.

Wu C et al.

Chinese Medical Journal, 2022

Genetic Profiling of Glucocorticoid (NR3C1) and Mineralocorticoid (NR3C2) Receptor Polymorphisms before Starting Therapy with Androgen Receptor Inhibitors: A Study of a Patient Who Developed Toxic Myocarditis after Enzalutamide Treatment.

Morales M et al.

Biomedicines, 2022

Recent advances in pharmacogenomics research of anti-asthmatic drugs: a narrative review.

Li J et al.

Annals of Translational Medicine, 2022

A 646C > G (rs41423247) polymorphism of the glucocorticoid receptor as a risk factor for hyperglycaemia diagnosed in pregnancy-data from an observational study.

Zawiejska A et al.

Acta Diabetologica, 2022

Adrenal suppression in patients with chronic obstructive pulmonary disease treated with glucocorticoids: Role of specific glucocorticoid receptor polymorphisms.

Sivapalan P et al.

Plos One, 2022

Pharmacogenomic markers of glucocorticoid response in congenital adrenal hyperplasia.

Botelho Barra C et al.

Plos One, 2022

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

Pac M et al.

Cells, 2021

Assessment of the Link of ABCB1 and NR3C1 gene polymorphisms with the prednisolone resistance in pediatric nephrotic syndrome patients of Bangladesh: A genotype and haplotype approach.

Parvin MN et al.

Journal of Advanced Research, 2021

Association between the Three Polymorphisms of the Glucocorticoid Receptor Gene and the Early Clinical Outcome in Kidney Transplantation Patients.

Mottaghi S et al.

Iranian Journal of Medical Sciences, 2021

Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia.

Villela TR et al.

Molecular and Cellular Endocrinology, 2021

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

Motavalli R et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2021

Individual-specific functional epigenomics reveals genetic determinants of adverse metabolic effects of glucocorticoids.

Hu W et al.

Cell Metabolism, 2021

Untargeted Plasma Metabolomics Unravels a Metabolic Signature for Tissue Sensitivity to Glucocorticoids in Healthy Subjects: Its Implications in Dietary Planning for a Healthy Lifestyle.

Nicolaides NC et al.

Nutrients, 2021

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

Castro-Vale I et al.

Healthcare (basel, Switzerland), 2021

Promising genes and variants to reduce chemotherapy adverse effects in acute lymphoblastic leukemia.

Bárcenas-López DA et al.

Translational Oncology, 2021

Anthropometrics and Metabolic Syndrome in Relation to Glucocorticoid Receptor Polymorphisms in Corticosteroid Users.

Savas M et al.

Neuroendocrinology, 2021

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

Skrzypczak-Zielinska M et al.

Archives of Medical Science : Ams, 2021

Long-Term Effects of Pediatric Acute Lymphoblastic Leukemia Chemotherapy: Can Recent Findings Inform Old Strategies?

Al-Mahayri ZN et al.

Frontiers in Oncology, 2021

Glucocorticoid receptor gene polymorphisms in Guillain-Barré syndrome.

Das A et al.

Journal of Neuroimmunology, 2020

Corticotropin releasing hormone receptor CRHR1 gene is associated with tianeptine antidepressant response in a large sample of outpatients from real-life settings.

Ramoz N et al.

Translational Psychiatry, 2020

Glucocorticoid receptor mutations and clinical sensitivity to glucocorticoid in Chinese multiple sclerosis patients.

Song T et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

Serum cortisone and glucocorticoid receptor gene (NR3C1) polymorphism in human dysglycemia.

Wei D et al.

Hormones (athens, Greece), 2020

Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response.

Mikhaylenko DS et al.

International Journal of Molecular Sciences, 2020

Role of NR3C1 and GAS5 genes polymorphisms in multiple sclerosis.

Moradi M et al.

The International Journal of Neuroscience, 2020

Steroid-resistant nephrotic syndrome: pharmacogenetics and epigenetic points and views.

Hejazian SM et al.

Expert Review of Clinical Pharmacology, 2020

Glucocorticoid Receptor Polymorphisms Influence Muscle Strength in Cushing's Syndrome.

Müller LM et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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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."