A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

doi:10.1073/pnas.92.25.11495

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

Back to search

Article

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

Proceedings of the National Academy of Sciences of the United States of America - 5 Dec 1995

Hansson J H, Schild L, Lu Y, Wilson T A, Gautschi I, Shimkets R, Nelson-Williams C, Rossier B C, Lifton R P

Abstract excerpt

Liddle syndrome is a mendelian form of hypertension characterized by constitutively elevated renal Na reabsorption that can result from activating mutations in the beta or gamma subunit of the epithelial Na channel. All reported mutations have deleted the last 45-76 normal amino acids from the cy...

Topics

Amino Acid Sequence
Animals
Base Sequence
Black People
Child
Epithelial Sodium Channels
Epithelium
Exons
Female
Humans
Hypertension

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutagenesis

Mutation

Pedigree

Polymorphism, Single-Stranded Conformational

Rats

Source

Open in PubMed Open full text

Identifiers

PMID: 8524790
DOI: 10.1073/pnas.92.25.11495
PMCID: PMC40428

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8524790-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.PMID 8524790Read ↗

Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.Semantic proximity Read ↗

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.Semantic proximity Read ↗

A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system.Semantic proximity Read ↗

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle SyndromeSemantic proximity Read ↗

Liddle’s Syndrome Caused by a Novel Mutation in the Proline-Rich PY Motif of the Epithelial Sodium Channel β-SubunitSemantic proximity Read ↗

A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.Semantic proximity Read ↗

Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension.Semantic proximity Read ↗

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.Semantic proximity Read ↗

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.Semantic proximity Read ↗

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.Semantic proximity Read ↗

The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel.Semantic proximity Read ↗

A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.Semantic proximity Read ↗

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