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

Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4.

International journal of molecular medicine - 1 Dec 2004

Ludwig Michael, Bidlingmaier Frank, Reissinger Annette

Abstract excerpt

Pseudohypoaldosteronism type 1 (PHA1), a rare disorder of infancy, presents with potential life-threatening salt wasting and failure to thrive. Thus far, PHA1 has been attributed to mutations affecting the mineralocorticoid receptor or any of the three subunits assembling the amiloride-sensitive epithelial sodium channel (ENaC). However, a lot of patients with a phenotype resembling PHA1, show no defects in these...

Read the complete abstract on PubMed

Topics

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

Share to Endosomal Sorting Complexes Required for Transport
Share to Mutation

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

Share to Nedd4 Ubiquitin Protein Ligases

Share to Pseudohypoaldosteronism

Share to Serine Endopeptidases

Share to Spectrin

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 15547682

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

Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4.PMID 15547682Read ↗

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

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

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

Pseudohypoaldosteronisms, report on a 10-patient series.Semantic proximity Read ↗

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

A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1Semantic proximity Read ↗

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.Semantic proximity Read ↗

Localisation of Pseudohypoaldosteronism Genes to Chromosome 16p12.2–13.11 and 12p13.1-Pter by Homozygosity MappingSemantic proximity Read ↗

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

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

A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1.Semantic proximity Read ↗

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