Verouti, Sophia; Hummler, Edith; Vanderriele, Paul-Emmanuel (2022). Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia. Pflügers Archiv : European journal of physiology, 474(8), pp. 829-840. Springer 10.1007/s00424-022-02715-6
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Verouti2022_Article_RoleOfGlucocorticoidReceptorMu.pdf - Published Version Available under License Creative Commons: Attribution (CC-BY). Download (927kB) | Preview |
Hypertension is one of the leading causes of premature death in humans and exhibits a complex aetiology including environmental and genetic factors. Mutations within the glucocorticoid receptor (GR) can cause glucocorticoid resistance, which is characterized by several clinical features like hypercortisolism, hypokalaemia, adrenal hyperplasia and hypertension. Altered glucocorticoid receptor signalling further affects sodium and potassium homeostasis as well as blood pressure regulation and cell proliferation and differentiation that influence organ development and function. In salt-sensitive hypertension, excessive renal salt transport and sympathetic nervous system stimulation may occur simultaneously, and, thus, both the mineralocorticoid receptor (MR) and the GR-signalling may be implicated or even act interdependently. This review focuses on identified GR mutations in human primary generalized glucocorticoid resistance (PGGR) patients and their related clinical phenotype with specific emphasis on adrenal gland hyperplasia and hypertension. We compare these findings to mouse and rat mutants harbouring genetically engineered mutations to further dissect the cause and/or the consequence of clinical features which are common or different.
Item Type: |
Journal Article (Review Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Nephrology and Hypertension |
UniBE Contributor: |
Verouti, Sofia |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1432-2013 |
Publisher: |
Springer |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
24 Jun 2022 10:19 |
Last Modified: |
05 Dec 2022 16:21 |
Publisher DOI: |
10.1007/s00424-022-02715-6 |
PubMed ID: |
35732960 |
Uncontrolled Keywords: |
Animal model Epithelial transport Glucocorticoid resistance Homeostasis Hypercortisolism Kidney physiology |
BORIS DOI: |
10.48350/170879 |
URI: |
https://boris.unibe.ch/id/eprint/170879 |
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