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-Reference-Cited by-同舟云学术

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

Published:2013-04-01 Issue:4 Volume:98 Page:E790-E795
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Roberts Michael L.¹,Kino Tomoshige²,Nicolaides Nicolas C.¹³,Hurt Darrell E.⁴,Katsantoni Eleni⁵,Sertedaki Amalia¹³,Komianou Filadelfia⁶,Kassiou Korina⁶,Chrousos George P.³,Charmandari Evangelia¹³

Affiliation:

1. Division of Endocrinology (M.L.R., N.C.N., A.S., G.P.C., E.C.), Metabolism and Diabetes, First Department of Pediatrics, University of Athens Medical School, “Aghia Sophia” Children's Hospital, Athens, 11527, Greece

2. Unit on Molecular Hormone Action (T.K.), Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892

3. Division of Endocrinology and Metabolism (M.L.R., N.C.N., A.S., G.P.C., E.C.), Athens, 11527, Greece

4. Bioinformatics and Computational Biosciences Branch (D.E.H.), Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892

5. Division of Hematology-Oncology (E.K.), Clinical Research Center, Biomedical Research Foundation of the Academy of Athens, Athens, 11527, Greece

6. First Pediatric Department (F.K., K.K), “Aghia Sophia” Children's Hospital, Athens, 11527, Greece

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/98/4/E790/9050207/jcemE790.pdf

Reference20 articles.

1. Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease;Chrousos;J Clin Invest,1982

2. Syndromes of glucocorticoid resistance;Chrousos;Ann Intern Med,1993

3. Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder;Charmandari;J Clin Endocrinol Metab,2008

4. Chrousos syndrome: a seminal report, a phylogenetic enigma and the clinical implications of glucocorticoid signalling changes;Charmandari;Eur J Clin Invest,2010

5. Primary generalized glucocorticoid resistance and hypersensitivity;Charmandari;Horm Res Paediatr,2011

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