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
40648780 (PubMed )
Supplement: jcm-14-04408-s001.zip › supplementary_file › supplementary_table_2__MR_group_.xlsx › MR_group_n_88_
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
Zhou WZ et al.
Human Mutation, 2019
30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.
Zennaro MC et al.
The Journal of Endocrinology, 2017
GPR48 increases mineralocorticoid receptor gene expression.
Wang J et al.
Journal of the American Society of Nephrology : Jasn, 2012
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
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
Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity.
Riepe FG et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds.
Viemann M et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.
Tajima T et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
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