Identification of a novel point mutation in the ligand-binding domain of the human glucocorticoid receptor (hGR) in a patient with glucocorticoid resistance

Salvatore Cannavò; Michael Karl; Libero Santarpia; Angelo Facchiano; Anna Marabotti; Francesco Trimarchi; Salvatore Benvenga

doi:10.1515/ijdhd.2007.6.1.105

Identification of a novel point mutation in the ligand-binding domain of the human glucocorticoid receptor (hGR) in a patient with glucocorticoid resistance

International Journal on Disability and Human Development ◽

10.1515/ijdhd.2007.6.1.105 ◽

2007 ◽

Vol 6 (1) ◽

Cited By ~ 1

Author(s):

Salvatore Cannavò ◽

Michael Karl ◽

Libero Santarpia ◽

Angelo Facchiano ◽

Anna Marabotti ◽

...

Keyword(s):

Glucocorticoid Receptor ◽

Ligand Binding ◽

Point Mutation ◽

Binding Domain ◽

Ligand Binding Domain ◽

Glucocorticoid Resistance

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

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2004-1920 ◽

2005 ◽

Vol 90 (6) ◽

pp. 3696-3705 ◽

Cited By ~ 60

Author(s):

Evangelia Charmandari ◽

Annaswamy Raji ◽

Tomoshige Kino ◽

Takamasa Ichijo ◽

Anatoly Tiulpakov ◽

...

Keyword(s):

Glucocorticoid Receptor ◽

Ligand Binding ◽

Point Mutation ◽

Binding Domain ◽

Ligand Binding Domain ◽

Glucocorticoid Resistance ◽

C Terminus

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A Novel Point Mutation in the Helix 10 of the Human Glucocorticoid Receptor Causes Generalized Glucocorticoid Resistance by Disrupting the Structure of the Ligand-Binding Domain.

10.1210/endo-meetings.2010.part1.p1.p1-24 ◽

2010 ◽

pp. P1-24-P1-24

Author(s):

N Nader ◽

BE Bachrach ◽

DE Hurt ◽

S Gajula ◽

A Pittman ◽

...

Keyword(s):

Glucocorticoid Receptor ◽

Ligand Binding ◽

Point Mutation ◽

Binding Domain ◽

Ligand Binding Domain ◽

Glucocorticoid Resistance

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A Novel Point Mutation in Helix 11 of the Ligand-Binding Domain of the Human Glucocorticoid Receptor Gene Causing Generalized Glucocorticoid Resistance

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2006-2830 ◽

2007 ◽

Vol 92 (10) ◽

pp. 3986-3990 ◽

Cited By ~ 51

Author(s):

Evangelia Charmandari ◽

Tomoshige Kino ◽

Takamasa Ichijo ◽

William Jubiz ◽

Liliana Mejia ◽

...

Keyword(s):

Glucocorticoid Receptor ◽

Ligand Binding ◽

Point Mutation ◽

Receptor Gene ◽

Binding Domain ◽

Ligand Binding Domain ◽

Glucocorticoid Resistance ◽

Glucocorticoid Receptor Gene

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A Novel Point Mutation in Helix 10 of the Human Glucocorticoid Receptor Causes Generalized Glucocorticoid Resistance by Disrupting the Structure of the Ligand-Binding Domain

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2009-2463 ◽

2010 ◽

Vol 95 (5) ◽

pp. 2281-2285 ◽

Cited By ~ 38

Author(s):

Nancy Nader ◽

Bert E. Bachrach ◽

Darrell E. Hurt ◽

Sonia Gajula ◽

Amy Pittman ◽

...

Keyword(s):

Glucocorticoid Receptor ◽

Ligand Binding ◽

Point Mutation ◽

Binding Domain ◽

Ligand Binding Domain ◽

Glucocorticoid Resistance

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

Journal of Molecular Graphics and Modelling ◽

10.1016/j.jmgm.2019.07.020 ◽

2019 ◽

Vol 92 ◽

pp. 216-226 ◽

Cited By ~ 2

Author(s):

L.L.S. Monteiro ◽

O.L. Franco ◽

S.A. Alencar ◽

W.F. Porto

Keyword(s):

Glucocorticoid Receptor ◽

Ligand Binding ◽

Binding Domain ◽

Ligand Binding Domain ◽

Glucocorticoid Resistance ◽

Structural Basis ◽

Missense Mutations

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Structural Analysis of the Glucocorticoid Receptor Ligand-Binding Domain in Complex with Triamcinolone Acetonide and a Fragment of the Atypical Coregulator, Small Heterodimer Partner

Molecular Pharmacology ◽

10.1124/mol.117.108506 ◽

2017 ◽

Vol 92 (1) ◽

pp. 12-21 ◽

Cited By ~ 7

Author(s):

Emily R. Weikum ◽

C. Denise Okafor ◽

Emma H. D’Agostino ◽

Jennifer K. Colucci ◽

Eric A. Ortlund

Keyword(s):

Structural Analysis ◽

Glucocorticoid Receptor ◽

Ligand Binding ◽

Triamcinolone Acetonide ◽

Binding Domain ◽

Ligand Binding Domain ◽

Receptor Ligand ◽

Small Heterodimer Partner

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First High-Resolution Crystal Structures of the Glucocorticoid Receptor Ligand-Binding Domain–Peroxisome Proliferator-Activated γ Coactivator 1-α Complex with Endogenous and Synthetic Glucocorticoids

Molecular Pharmacology ◽

10.1124/mol.119.116806 ◽

2019 ◽

Vol 96 (4) ◽

pp. 408-417 ◽

Cited By ~ 7

Author(s):

Xu Liu ◽

Yashuo Wang ◽

Eric A. Ortlund

Keyword(s):

High Resolution ◽

Glucocorticoid Receptor ◽

Ligand Binding ◽

Crystal Structures ◽

Binding Domain ◽

Ligand Binding Domain ◽

Peroxisome Proliferator ◽

Receptor Ligand ◽

Synthetic Glucocorticoids

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Distinction between binding of [3H]triamcinolone acetonide to a ligand binding domain on the glucocorticoid receptor complex in cytosol fractions of brain and liver from the rat with intact adrenals

Brain Research ◽

10.1016/0006-8993(95)00427-r ◽

1995 ◽

Vol 685 (1-2) ◽

pp. 105-116 ◽

Cited By ~ 7

Author(s):

Yukio Yoneda ◽

Da Han ◽

Kiyokazu Ogita ◽

Akiko Watanabe

Keyword(s):

Glucocorticoid Receptor ◽

Ligand Binding ◽

Triamcinolone Acetonide ◽

Binding Domain ◽

Ligand Binding Domain ◽

Receptor Complex

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A Novel Point Mutation in the DNA-Binding Domain (DBD) of the Human Glucocorticoid Receptor Causes Primary Generalized Glucocorticoid Resistance by Disrupting the Hydrophobic Structure of its DBD

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2012-3549 ◽

2013 ◽

Vol 98 (4) ◽

pp. E790-E795 ◽

Cited By ~ 23

Author(s):

Michael L. Roberts ◽

Tomoshige Kino ◽

Nicolas C. Nicolaides ◽

Darrell E. Hurt ◽

Eleni Katsantoni ◽

...

Keyword(s):

Dna Binding ◽

Glucocorticoid Receptor ◽

Point Mutation ◽

Binding Domain ◽

Glucocorticoid Resistance ◽

Dna Binding Domain

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Homology modelling of the ligand-binding domain of glucocorticoid receptor: binding site interactions with cortisol and corticosterone

Protein Engineering Design and Selection ◽

10.1093/protein/14.8.565 ◽

2001 ◽

Vol 14 (8) ◽

pp. 565-571 ◽

Cited By ~ 12

Author(s):

Raja Dey ◽

P. Roychowdhury ◽

C. Mukherjee

Keyword(s):

Glucocorticoid Receptor ◽

Ligand Binding ◽

Binding Site ◽

Receptor Binding ◽

Homology Modelling ◽

Binding Domain ◽

Ligand Binding Domain ◽

Receptor Binding Site

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