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

Evangelia Charmandari; Tomoshige Kino; Takamasa Ichijo; William Jubiz; Liliana Mejia; Keith Zachman; George P. Chrousos

doi:10.1210/jc.2006-2830

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 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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Sequence Variants of the Ligand-Binding Domain of the Glucocorticoid Receptor Gene and their Functional Consequences on the Three- Dimensional Protein Structure

Current Medicinal Chemistry ◽

10.2174/0929867043363749 ◽

2004 ◽

Vol 11 (24) ◽

pp. 3229-3237 ◽

Cited By ~ 3

Author(s):

Istvan Liko ◽

Peter Igaz ◽

Attila Patocs ◽

Szilvia Toth ◽

Tamas Pazmany ◽

...

Keyword(s):

Protein Structure ◽

Glucocorticoid Receptor ◽

Ligand Binding ◽

Receptor Gene ◽

Three Dimensional ◽

Binding Domain ◽

Ligand Binding Domain ◽

Sequence Variants ◽

Glucocorticoid Receptor Gene ◽

Functional Consequences

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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 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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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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Neonatal Complete Generalized Glucocorticoid Resistance and Growth Hormone Deficiency Caused by a Novel Homozygous Mutation in Helix 12 of the Ligand Binding Domain of the Glucocorticoid Receptor Gene (NR3C1)

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2009-1003 ◽

2010 ◽

Vol 95 (1) ◽

pp. 297-302 ◽

Cited By ~ 52

Author(s):

Sarah K. McMahon ◽

Carel J. Pretorius ◽

Jacobus P. J. Ungerer ◽

Nathaniel J. Salmon ◽

Louise S. Conwell ◽

...

Keyword(s):

Growth Hormone ◽

Glucocorticoid Receptor ◽

Ligand Binding ◽

Growth Hormone Deficiency ◽

Receptor Gene ◽

Glucocorticoid Resistance ◽

Hormone Deficiency ◽

Homozygous Mutation ◽

Glucocorticoid Receptor Gene ◽

Helix 12

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Neonatal Complete Generalized Glucocorticoid Resistance and Growth Hormone Deficiency Caused by a Novel Homozygous Mutation in Helix 12 of the Ligand Binding Domain of the Glucocorticoid Receptor Gene (NR3C1)

Yearbook of Endocrinology ◽

10.1016/s0084-3741(10)79460-9 ◽

2010 ◽

Vol 2010 ◽

pp. 373-374

Author(s):

E. Eugster

Keyword(s):

Growth Hormone ◽

Glucocorticoid Receptor ◽

Ligand Binding ◽

Growth Hormone Deficiency ◽

Receptor Gene ◽

Glucocorticoid Resistance ◽

Hormone Deficiency ◽

Homozygous Mutation ◽

Glucocorticoid Receptor Gene ◽

Helix 12

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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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A Novel Point Mutation of the Human Glucocorticoid Receptor Gene Causes Primary Generalized Glucocorticoid Resistance Through Impaired Interaction With the LXXLL Motif of the p160 Coactivators: Dissociation of the Transactivating and Transreppressive Activities

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2013-3005 ◽

2014 ◽

Vol 99 (5) ◽

pp. E902-E907 ◽

Cited By ~ 35

Author(s):

Nicolas C. Nicolaides ◽

Michael L. Roberts ◽

Tomoshige Kino ◽

Geoffrey Braatvedt ◽

Darrell E. Hurt ◽

...

Keyword(s):

Glucocorticoid Receptor ◽

Point Mutation ◽

Receptor Gene ◽

Glucocorticoid Resistance ◽

Lxxll Motif ◽

Glucocorticoid Receptor Gene

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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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