Associated Papers
First European case of Geller syndrome complicated with hypokalemic nephropathy: A case report and literature review.
Gavriilidis E et al.
Metabolism Open, 2026
Hypertension and hyperkalemia associated with Pro701Leu mutation in the NR3C2 gene: A case report.
Kwon L et al.
Medicine, 2025
Genetic background of neonatal hypokalemia.
Fang C et al.
Pediatric Nephrology (berlin, Germany), 2025
Update in genetic and epigenetic causes of hypertension.
Mani A
Cellular and Molecular Life Sciences : Cmls, 2024
Diagnosis and Treatment of Monogenic Hypertension in Children.
Park SJ et al.
Yonsei Medical Journal, 2023
Monogenic forms of low-renin hypertension: clinical and molecular insights.
Khandelwal P et al.
Pediatric Nephrology (berlin, Germany), 2022
Effect of Water Molecules on the Activating S810L Mutation of the Mineralocorticoid Receptor.
Takedomi K et al.
Journal of Chemical Information and Modeling, 2021
Inherited Renal Tubulopathies-Challenges and Controversies.
Iancu D et al.
Genes, 2020
Clinical and Molecular Perspectives of Monogenic Hypertension.
Levanovich PE et al.
Current Hypertension Reviews, 2020
Liddle's syndrome mechanisms, diagnosis and management.
Enslow BT et al.
Integrated Blood Pressure Control, 2019
The Low-Renin Hypertension Phenotype: Genetics and the Role of the Mineralocorticoid Receptor.
Baudrand R et al.
International Journal of Molecular Sciences, 2018
30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.
Zennaro MC et al.
The Journal of Endocrinology, 2017
Is There a Role for Genomics in the Management of Hypertension?
Burrello J et al.
International Journal of Molecular Sciences, 2017
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
Histone deacetylase inhibition, but not a mineralocorticoid receptor antagonist spironolactone, attenuates atypical transcription by an activating mutant MR (MRS 810L ).
Kang SH et al.
Clinical and Experimental Pharmacology & Physiology, 2016
Finerenone Impedes Aldosterone-dependent Nuclear Import of the Mineralocorticoid Receptor and Prevents Genomic Recruitment of Steroid Receptor Coactivator-1.
Amazit L et al.
The Journal of Biological Chemistry, 2015
Inherited forms of mineralocorticoid hypertension.
Zennaro MC et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2015
Genetic and molecular aspects of hypertension.
Padmanabhan S et al.
Circulation Research, 2015
Finding chemical drugs for genetic diseases.
Sun HY et al.
Drug Discovery Today, 2014
The role of the renin-angiotensin-aldosterone system in preeclampsia: genetic polymorphisms and microRNA.
Yang J et al.
Journal of Molecular Endocrinology, 2013
The molecular basis of blood pressure variation.
Toka HR et al.
Pediatric Nephrology (berlin, Germany), 2013
Integrating genomic and epigenomic information: a promising strategy for identifying functional DNA variants of human disease.
Zaina S et al.
Clinical Genetics, 2012
Structural determinants of ligand binding to the mineralocorticoid receptor.
Huyet J et al.
Molecular and Cellular Endocrinology, 2012
Association between renin-angiotensin-aldosterone system-related genes and blood pressure in a Korean population.
Song SB et al.
Blood Pressure, 2011
Relationship of aldosterone synthase gene (C-344T) and mineralocorticoid receptor (S810L) polymorphisms with gestational hypertension.
Ramírez-Salazar M et al.
Journal of Human Hypertension, 2011
Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1.
Fernandes-Rosa FL et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
The functional c.-2G>C variant of the mineralocorticoid receptor modulates blood pressure, renin, and aldosterone levels.
van Leeuwen N et al.
Hypertension (dallas, Tex. : 1979), 2010
Genetics talks to epigenetics? The interplay between sequence variants and chromatin structure.
Zaina S et al.
Current Genomics, 2010
Association of a mineralocorticoid receptor gene polymorphism with hypertension in a Spanish population.
Martinez F et al.
American Journal of Hypertension, 2009
A DFT-D investigation of the mechanisms for activation of the wild-type and S810L mutated mineralocorticoid receptor by steroid hormones.
Riley KE et al.
The Journal of Physical Chemistry. B, 2008
A critical region in the mineralocorticoid receptor for aldosterone binding and activation by cortisol: evidence for a common mechanism governing ligand binding specificity in steroid hormone receptors.
Rogerson FM et al.
Molecular Endocrinology (baltimore, Md.), 2007
[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].
Fernandes-Rosa FL et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
Monogenic forms of low-renin hypertension.
Garovic VD et al.
Nature Clinical Practice. Nephrology, 2006
Monogenic mineralocorticoid hypertension.
Stowasser M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
[Hypertension due to mutation of mineralocorticoid receptors].
Inaba S et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2006
A ligand-mediated hydrogen bond network required for the activation of the mineralocorticoid receptor.
Bledsoe RK et al.
The Journal of Biological Chemistry, 2005
A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.
Kamide K et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2005
Structural and biochemical mechanisms for the specificity of hormone binding and coactivator assembly by mineralocorticoid receptor.
Li Y et al.
Molecular Cell, 2005
Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension.
Fagart J et al.
Nature Structural & Molecular Biology, 2005
Polymorphisms of thrombophilic and vasoactive genes and severe preeclampsia: a pilot study.
Tempfer CB et al.
Journal of the Society for Gynecologic Investigation, 2004
Inherited Na transport disorders: the taming of the syndromes.
Vehaskari VM
Current Opinion in Pediatrics, 2004
Identification of steroid ligands able to inactivate the mineralocorticoid receptor harboring the S810L mutation responsible for a severe form of hypertension.
Pinon GM et al.
Molecular and Cellular Endocrinology, 2004
Endocrine disorders of sodium regulation. Role of adrenal steroids in genetic defects causing sodium loss or sodium retention.
Kuhnle U et al.
Hormone Research, 2004
Analysis of the S810L point mutation of the mineralocorticoid receptor in patients with pregnancy-induced hypertension.
Schmider-Ross A et al.
Hypertension in Pregnancy, 2004
Mendelian forms of human hypertension and mechanisms of disease.
Luft FC
Clinical Medicine & Research, 2003
[Monogenic hypertension].
Bähr V et al.
Medizinische Klinik (munich, Germany : 1983), 2003
The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related.
Rafestin-Oblin ME et al.
Endocrinology, 2003
Genetics of the mineralocorticoid system in primary hypertension.
Ferrari P
Current Hypertension Reports, 2002