Three Novel Heterozygous Point Mutations ofNR3C1Causing Glucocorticoid Resistance-Reference-Cited by-同舟云学术

Three Novel Heterozygous Point Mutations ofNR3C1Causing Glucocorticoid Resistance

Published:2016-05-11 Issue:8 Volume:37 Page:794-803
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vitellius Géraldine¹,Fagart Jérôme¹,Delemer Brigitte²,Amazit Larbi¹³,Ramos Nelly¹,Bouligand Jérôme¹⁴,Le Billan Florian¹,Castinetti Frédéric⁵,Guiochon-Mantel Anne¹⁴,Trabado Séverine¹⁴,Lombès Marc¹⁶

Affiliation:

1. INSERM UMR S 1185, Fac Med Paris Sud, Univ. Paris Sud; Université Paris-Saclay; Le Kremlin Bicêtre F-94276 France

2. Service d'Endocrinologie; Hôpital Robert Debré; CHU Reims; Reims F-51100 France

3. INSERM UMS-32, Institut Biomédical de Bicêtre; Univ. Paris Sud; Université Paris-Saclay; Le Kremlin Bicêtre F-94275 France

4. Service de Génétique Moléculaire; Pharmacogénétique et Hormonologie; Hôpitaux Universitaires Paris Sud; CHU Bicêtre F-94275 France

5. Service d'Endocrinologie; Hôpital de la Timone; CHU Marseille; Marseille F-13385 France

6. Service d'Endocrinologie et des Maladies de la Reproduction; Hôpitaux Universitaires Paris Sud; CHU Bicêtre; Le Kremlin Bicêtre F-94275 France

Funder

French Ministry of Health (Programme Hospitalier de Recherche Clinique National)

Institut National de la Santé et de la Recherche Médicale (Inserm)

Université Paris Sud

Agence Régionale de Santé Champagne Ardennes

French Endocrine Society (SFE)/Novartis Pharma

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Finerenone impedes aldosterone-dependent nuclear import of the mineralocorticoid receptor and prevents genomic recruitment of steroid receptor coactivator-1;Amazit;J Biol Chem,2015

2. Autocrine positive regulatory feedback of glucocorticoid secretion: glucocorticoid receptor directly impacts H295R human adrenocortical cell function;Asser;Mol Cell Endocrinol,2014

3. Glucocorticoid receptor beta, a potential endogenous inhibitor of glucocorticoid action in humans;Bamberger;J Clin Invest,1995

4. A hotspot in the glucocorticoid receptor DNA-binding domain susceptible to loss of function mutation;Banuelos;Steroids,2015

5. DNA binding domains in diverse nuclear receptors function as nuclear export signals;Black;Curr Biol,2001

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