Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

The Journal of clinical endocrinology and metabolism - 1 Nov 2006

Riepe Felix G, Finkeldei Johannes, de Sanctis Luisa, Einaudi Silvia, Testa Alberto, Karges Beate, Peter Michael, Viemann Matthias, Grötzinger Joachim, Sippell Wolfgang G, Fejes-Toth Geza, Krone Nils

Abstract excerpt

CONTEXT: Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting syndrome. Mutations in the NR3C2 gene coding for the mineralocorticoid receptor (MR) cause autosomal dominant PHA1. OBJECTIVE: Our objective was to reveal the cause of renal salt loss in six PHA1 patients and analyze the mutants' functional impact on MR function. DESIGN: Our study included the following: clinical and hormonal characterization...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Imaging, Three-Dimensional
Share to Mutant Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Protein Structure, Secondary

Share to Pseudohypoaldosteronism

Share to Rabbits

Share to Receptors, Mineralocorticoid

Share to Tissue Distribution

Share to Transcriptional Activation

Source

Identifiers

PMID: 16954160
DOI: 10.1210/jc.2006-1161

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.PMID 16954160Read ↗

Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.Semantic proximity Read ↗

Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1.Semantic proximity Read ↗

Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1Semantic proximity Read ↗

Clinical and molecular features of type 1 pseudohypoaldosteronism.Semantic proximity Read ↗

Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene.Semantic proximity Read ↗

Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.Semantic proximity Read ↗

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

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

Renal pseudohypoaldosteronism type 1 – an adult case series including a novel gene variantSemantic proximity Read ↗

Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1.Semantic proximity Read ↗

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.