Associated Papers
Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature Review.
Nakata Y et al.
Journal of Clinical Medicine, 2025
Clinical features and molecular basis of pseudohypoaldosteronism type 1.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.
Kanda K et al.
Bmc Nephrology, 2009
Association of a mineralocorticoid receptor gene polymorphism with hypertension in a Spanish population.
Martinez F et al.
American Journal of Hypertension, 2009
Clinical and molecular features of type 1 pseudohypoaldosteronism.
Riepe FG
Hormone Research, 2009
Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase.
Yip YL et al.
Human Mutation, 2008
Molecular pathogenesis of renal pseudohypoaldosteronism type 1.
Riepe FG
Expert Review of Endocrinology & Metabolism, 2007
[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].
Fernandes-Rosa FL et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
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
New naturally occurring missense mutations of the human mineralocorticoid receptor disclose important residues involved in dynamic interactions with deoxyribonucleic acid, intracellular trafficking, and ligand binding.
Sartorato P et al.
Molecular Endocrinology (baltimore, Md.), 2004
Mineralocorticoid resistance.
Zennaro MC et al.
Trends in Endocrinology and Metabolism: Tem, 2004
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.
Sartorato P et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Development and Diseases of the Collecting Duct System.
Chen L et al.
Results and Problems in Cell Differentiation, 0