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A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity

research A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity

91 citations, May 2005 in “The Journal of Clinical Endocrinology & Metabolism”

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

Recent Advances in the Molecular Mechanisms Determining Tissue Sensitivity to Glucocorticoids: Novel Mutations, Circadian Rhythm, and Ligand-Induced Repression of the Human Glucocorticoid Receptor

research Recent Advances in the Molecular Mechanisms Determining Tissue Sensitivity to Glucocorticoids: Novel Mutations, Circadian Rhythm, and Ligand-Induced Repression of the Human Glucocorticoid Receptor

62 citations, August 2014 in “BMC Endocrine Disorders”

New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.

research Primary Generalized Glucocorticoid Resistance And Hypersensitivity

48 citations, January 2011 in “Hormone Research in Paediatrics”

The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.

research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management

47 citations, February 2015 in “European Journal of Clinical Investigation”

The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.

Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching Is an Integrated Measure of Receptor Function

research Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching Is an Integrated Measure of Receptor Function

31 citations, July 2004 in “Molecular Medicine”

Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.

research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor

December 2016 in “Springer eBooks”

Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.

research Generalized Glucocorticoid Resistance

January 2008 in “US endocrinology”

Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.

research Regulation of Involucrin Gene Expression

138 citations, June 2004 in “Journal of Investigative Dermatology”

Involucrin gene expression is controlled by specific proteins and signaling pathways.