Clinical features associated with glucocorticoid receptor polymorphisms: an overview

L Manenschijn, ELT Van Den Akker… - Annals of the New …, 2009 - Wiley Online Library
The glucocorticoid receptor (GR) is crucial for the effects of glucocorticoids (GCs). Several
polymorphisms of the GR are associated with altered sensitivity to GCs. For the ER22/23EK …

Glucocorticoid receptor polymorphisms and haplotypes and their expression in health and disease

JW Koper, EFC van Rossum, ELT van den Akker - Steroids, 2014 - Elsevier
Cortisol is involved in many physiological processes, including immunosuppressive and anti-
inflammatory actions, and therefore cortisol and its synthetic analogs are widely used to treat …

Generalized and tissue specific glucocorticoid resistance

CS Martins, M de Castro - Molecular and cellular endocrinology, 2021 - Elsevier
Glucocorticoids (GCs) are steroid hormones that influence several physiologic functions and
are among the most frequently prescribed drugs worldwide. Resistance to GCs has been …

BC l I polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with …

R Giordano, S Marzotti, R Berardelli… - Clinical …, 2012 - Wiley Online Library
Object Although glucocorticoids are essential for health, several studies have shown that
glucocorticoids replacement in Addison's disease might be involved in anthropometric and …

The glucocorticoid receptor: isoforms, functions, and contribution to glucocorticoid sensitivity

J Lockett, WJ Inder, VL Clifton - Endocrine Reviews, 2024 - academic.oup.com
Glucocorticoids exert pleiotropic effects on all tissues to regulate cellular and metabolic
homeostasis. Synthetic forms are used therapeutically in a wide range of conditions for their …

Polymorphisms of the GR and HSD11B1 genes influence body mass index and weight gain during hormone replacement treatment in patients with Addison's …

Á Molnár, A Kövesdi, N Szücs, M Tóth… - Clinical …, 2016 - Wiley Online Library
Objective Glucocorticoid substitution is essential in patients with chronic primary
adrenocortical insufficiency (Addison's disease) and both over‐treatment and inadequate …

The glucocorticoid receptor gene polymorphism N363S predisposes to more severe toxic side effects during pediatric acute lymphoblastic leukemia (ALL) therapy

OT Eipel, K Németh, D Török, K Csordas… - International journal of …, 2013 - Springer
The survival rates in childhood acute lymphoid leukemia (ALL) have improved dramatically;
however, patients still suffer from a variety of drug-related toxicities. Individualized therapy …

Can incorporating molecular testing improve the accuracy of newborn screening for congenital adrenal hyperplasia?

K Sarafoglou, A Gaviglio, C Wolf… - The Journal of …, 2024 - academic.oup.com
Context Single-tier newborn screening (NBS) for congenital adrenal hyperplasia (CAH)
using 17-hydroxyprogesterone (17OHP) measured by fluoroimmunoassay (FIA) in samples …

Glucocorticoid receptor gene (NR3C1) polymorphisms and haplotypes in patients with congenital adrenal hyperplasia

TR Villela, CB Barra, AR Belisário, MR Luizon… - Molecular and Cellular …, 2021 - Elsevier
Background Lifelong glucocorticoid (GC) replacement is the mainstay treatment of
congenital adrenal hyperplasia (CAH) due to classic 21-hydroxylase deficiency (21-OHD) …

[HTML][HTML] Association of the GAA1013→ GAG polymorphism of the insulin-like growth factor-1 receptor (IGF1R) gene with premature pubarche

MB Roldan, C White, SF Witchel - Fertility and sterility, 2007 - Elsevier
OBJECTIVE: A single-nucleotide polymorphism (SNP), the G variant in codon 1013
(GAA1013→ GAG) of the insulin-like growth factor-1 (IGF-1) receptor (IGFIR) gene, has been …