Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess

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

(2010) Nancy Nader et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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)

(2009) Sarah K. McMahon et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Messenger RNA regulation: to translate or to degrade

(2008) Ann-Bin Shyu et al.   EMBO JOURNAL

Epithelial Sodium Channel Is a Key Mediator of Growth Hormone-Induced Sodium Retention in Acromegaly

(2008) Peter Kamenicky et al.   ENDOCRINOLOGY

Glucocorticoid receptor haploinsufficiency causes hypertension and attenuates hypothalamic-pituitary-adrenal axis and blood pressure adaptions to high-fat diet

(2008) Z. Michailidou et al.   FASEB JOURNAL

Generalized Glucocorticoid Resistance: Clinical Aspects, Molecular Mechanisms, and Implications of a Rare Genetic Disorder

(2008) Evangelia Charmandari et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

(2008) Thomas Rio Frio et al.   JOURNAL OF CLINICAL INVESTIGATION

Molecular mechanisms regulating glucocorticoid sensitivity and resistance

(2008) Katherine L. Gross et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

The meaning of nonsense

(2008) Lukas Stalder et al.   TRENDS IN CELL BIOLOGY

Tissue-specific glucocorticoid action: a family affair

(2008) Katherine L. Gross et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM