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

A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.

The EMBO journal - 3 Mar 1997

Gründer S, Firsov D, Chang S S, Jaeger N F, Gautschi I, Schild L, Lifton R P, Rossier B C

Abstract excerpt

Pseudohypoaldosteronism type 1 (PHA-1) is an inherited disease characterized by severe neonatal salt-wasting and caused by mutations in subunits of the amiloride-sensitive epithelial sodium channel (ENaC). A missense mutation (G37S) of the human ENaC beta subunit that causes loss of ENaC function and PHA-1 replaces a glycine that is conserved in the N-terminus of all members of the ENaC gene family. We now report...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Conserved Sequence

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

Share to Molecular Sequence Data

Share to Mutagenesis, Site-Directed

Share to Mutation

Share to Oocytes

Share to Phosphorylation

Share to Sequence Homology, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 9118951
DOI: 10.1093/emboj/16.5.899
PMCID: PMC1169690

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

A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel.PMID 9118951Read ↗

Voltage-dependent gating underlies loss of ENaC function in Pseudohypoaldosteronism type 1.Semantic proximity Read ↗

Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its α subunitSemantic proximity Read ↗

A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism.Semantic proximity Read ↗

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.Semantic proximity Read ↗

A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.Semantic proximity Read ↗

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

A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.Semantic proximity Read ↗

Activation of autosomal recessive Pseudohypoaldosteronism1 ENaC with aldosterone.Semantic proximity Read ↗

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

Clinical and genetic analysis of multi-system pseudohypoaldosteronism type 1 caused by a novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC)Semantic proximity Read ↗

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem DysfunctionSemantic proximity Read ↗

A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.Semantic proximity Read ↗

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