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Article

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

The Journal of endocrinology - 1 Jul 2017

Zennaro Maria-Christina, Fernandes-Rosa Fabio

Abstract excerpt

Aldosterone and the mineralocorticoid receptor (MR) are key elements for maintaining fluid and electrolyte homeostasis as well as regulation of blood pressure. Loss-of-function mutations of the MR are responsible for renal pseudohypoaldosteronism type 1 (PHA1), a rare disease of mineralocorticoid resistance presenting in the newborn with weight loss, failure to thrive, vomiting and dehydration, associated with...

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Identifiers

PMID: 28348114
DOI: 10.1530/JOE-17-0089

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.PMID 28348114Read ↗

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].Semantic proximity Read ↗

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.Semantic proximity Read ↗

Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.Semantic proximity Read ↗

Aldosterone resistance: structural and functional considerations and new perspectives.Semantic proximity Read ↗

Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature ReviewSemantic proximity Read ↗

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Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.Semantic proximity Read ↗

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