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

Tbx5 variants disrupt Nav1.5 function differently in patients diagnosed with Brugada or Long QT Syndrome

5 Feb 2021

Abstract excerpt

AIMS: The transcription factor Tbx5 controls cardiogenesis and drives Scn5a expression in mice. We have identified two variants in TBX5 encoding p. D111Y and p. F206L Tbx5, respectively, in two unrelated patients with structurally normal hearts diagnosed with long QT (LQTS) and Brugada (BrS) syndrome. Here, we characterized the consequences of each variant to unravel the underlying disease mechanisms. METHODS AND...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Congenital heart defects research
Share to Pluripotent Stem Cells Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33576403
DOI: 10.1093/cvr/cvab045

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tbx5 variants disrupt Nav1.5 function differently in patients diagnosed with Brugada or Long QT SyndromePMID 33576403Read ↗

Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization.Semantic proximity Read ↗

TBX5 drives Scn5a expression to regulate cardiac conduction system functionSemantic proximity Read ↗

A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valveSemantic proximity Read ↗

Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm.Semantic proximity Read ↗

The Brugada syndrome associated gene <i>WT1</i> impacts on <i>SCN5A</i> expression and cardiac conductionSemantic proximity Read ↗

Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.Semantic proximity Read ↗

A New TBX5 Loss-of-Function Mutation Contributes to Congenital Heart Defect and Atrioventricular BlockSemantic proximity Read ↗

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.Semantic proximity Read ↗

TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy.Semantic proximity Read ↗

KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation.Semantic proximity Read ↗

Coordinated <i>Tbx3/Tbx5</i> transcriptional control of the adult ventricular conduction systemSemantic proximity Read ↗

A novel mutation in the SCN5A gene is associated with Brugada syndrome.Semantic proximity Read ↗

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