Varaico: Literature-Extracted Genetic Variants

Gene:NR3C1
Variant:p.L753F
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NR3C1

NM_000176.3:p.L753F

Associated Papers

The multimerization pathway of the glucocorticoid receptor.

Alegre-Martí A et al.

Nucleic Acids Research, 2025

Functional and Structural Impact of Deleterious Missense Single Nucleotide Polymorphisms in the NR3C1, CYP3A5, and TNF-α Genes: An In Silico Analysis.

Ramayanam NR et al.

Biomolecules, 2022

Glucocorticoid Resistant Pediatric Acute Lymphoblastic Leukemia Samples Display Altered Splicing Profile and Vulnerability to Spliceosome Modulation.

Sciarrillo R et al.

Cancers, 2020

Deciphering the structural basis for glucocorticoid resistance caused by missense mutations in the ligand binding domain of glucocorticoid receptor.

Monteiro LLS et al.

Journal of Molecular Graphics & Modelling, 2019

Restored mutant receptor:Corticoid binding in chaperone complexes by trimethylamine N-oxide.

Miller AL et al.

Plos One, 2017

Comprehensive overview of the structure and regulation of the glucocorticoid receptor.

Vandevyver S et al.

Endocrine Reviews, 2014

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

Ramamoorthy S et al.

Endocrine Development, 2013

The N363S and I559N single nucleotide polymorphisms of the h-GR/NR3C1 gene in patients with bronchial asthma.

Panek M et al.

International Journal of Molecular Medicine, 2012

Glucocorticoid resistance in two key models of acute lymphoblastic leukemia occurs at the level of the glucocorticoid receptor.

Schmidt S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2006

Loss of heterozygosity and somatic mutations of the glucocorticoid receptor gene are rarely found at relapse in pediatric acute lymphoblastic leukemia but may occur in a subpopulation early in the disease course.

Irving JA et al.

Cancer Research, 2005

Genetic variations in the glucocorticoid receptor gene are not related to glucocorticoid resistance in childhood acute lymphoblastic leukemia.

Tissing WJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005

The distinct agonistic properties of the phenylpyrazolosteroid cortivazol reveal interdomain communication within the glucocorticoid receptor.

Yoshikawa N et al.

Molecular Endocrinology (baltimore, Md.), 2005

Glucocorticoid receptor heterozygosity combined with lack of receptor auto-induction causes glucocorticoid resistance in Jurkat acute lymphoblastic leukemia cells.

Riml S et al.

Cell Death and Differentiation, 2004

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

Bray PJ et al.

Human Mutation, 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

Glucocorticoid receptor variants: clinical implications.

DeRijk RH et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2002

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

Glucocorticoid receptor gene mutations in leukemic cells acquired in vitro and in vivo.

Hillmann AG et al.

Cancer Research, 2000

Nuclear receptors: structure, function and involvement in disease.

Tenbaum S et al.

The International Journal of Biochemistry & Cell Biology, 1997

Glucocorticoid-receptor-gene defects and resistance to glucocorticoid-induced apoptosis in human leukemic cell lines.

Hala M et al.

International Journal of Cancer, 1996

Resistance to glucocorticoid-induced apoptosis in human T-cell acute lymphoblastic leukemia CEM-C1 cells is due to insufficient glucocorticoid receptor expression.

Geley S et al.

Cancer Research, 1996

Glucocorticoid resistant syndromes--molecular basis and clinical presentations.

Brönnegård M et al.

Journal of Neuroendocrinology, 1996

Splice site mutation in the glucocorticoid receptor gene causes resistance to glucocorticoid-induced apoptosis in a human acute leukemic cell line.

Strasser-Wozak EM et al.

Cancer Research, 1995

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