Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.T59R
Back to variants list

TRDN

NM_006073.4:p.T59R

Associated Papers

Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome.

Rabbani B et al.

American Journal of Medical Genetics. Part A, 2021

Generation of a Triadin KnockOut Syndrome Zebrafish Model.

Vecchi VM et al.

International Journal of Molecular Sciences, 2021

Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia.

Wleklinski MJ et al.

The Journal of Physiology, 2020

Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse.

Cacheux M et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2020

Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation.

Sarquella-Brugada G et al.

Frontiers in Pediatrics, 2020

International Triadin Knockout Syndrome Registry.

Clemens DJ et al.

Circulation. Genomic and Precision Medicine, 2019

A unique triadin exon deletion causing a null phenotype.

O'Callaghan BM et al.

Heartrhythm Case Reports, 2018

Calcium Signaling and Cardiac Arrhythmias.

Landstrom AP et al.

Circulation Research, 2017

Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.

Walsh MA et al.

Pacing and Clinical Electrophysiology : Pace, 2016

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.

Altmann HM et al.

Circulation, 2015

New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.

Jabbari J et al.

Circulation. Cardiovascular Genetics, 2013

24025405 (PubMed )
Supplement: 000118_supplemental_material.pdf

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.

Roux-Buisson N et al.

Human Molecular Genetics, 2012

Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care.

Siu A et al.

Annals of Pediatric Cardiology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."