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

SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.

Circulation - 1 Aug 2006

Poelzing Steven, Forleo Cinzia, Samodell Melissa, Dudash Lynn, Sorrentino Sandro, Anaclerio Matteo, Troccoli Rossella, Iacoviello Massimo, Romito Roberta, Guida Pietro, Chahine Mohamed, Pitzalis Mariavittoria, Deschênes Isabelle

Abstract excerpt

BACKGROUND: Brugada syndrome is associated with a high risk of sudden cardiac death and is caused by mutations in the cardiac voltage-gated sodium channel gene. Previously, the R282H-SCN5A mutation in the sodium channel gene was identified in patients with Brugada syndrome. In a family carrying the R282H-SCN5A mutation, an asymptomatic individual had a common H558R-SCN5A polymorphism and the mutation on separate...

Read the complete abstract on PubMed

Topics

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

Share to Pedigree
Share to Cell Line

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

Share to Gene Expression Regulation

Share to Immunohistochemistry

Share to Polymorphism, Single Nucleotide

Share to Proteins

Share to Risk Factors

Source

Identifiers

PMID: 16864729
DOI: 10.1161/CIRCULATIONAHA.105.601294

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

SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.PMID 16864729Read ↗

A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.Semantic proximity Read ↗

p.D372H: A novel SCN5A mutation associated with Brugada syndromeSemantic proximity Read ↗

De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.Semantic proximity Read ↗

p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.Semantic proximity Read ↗

A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugsSemantic proximity Read ↗

Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.Semantic proximity Read ↗

Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.Semantic proximity Read ↗

A Novel Disease Gene for Brugada SyndromeSemantic proximity Read ↗

Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.Semantic proximity Read ↗

Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.Semantic proximity Read ↗

A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.Semantic proximity Read ↗

Identification of a novel missense SCN5A mutation in a Chinese Han family with Brugada syndrome.Semantic proximity Read ↗

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