Phenotype-guided whole genome analysis in a patient with genetically elusive long QT syndrome yields a novel TRDN-encoded triadin pathogenetic substrate for triadin knockout syndrome and reveals a novel primate-specific cardiac TRDN transcript-Reference-Cited by-同舟云学术

Phenotype-guided whole genome analysis in a patient with genetically elusive long QT syndrome yields a novel TRDN-encoded triadin pathogenetic substrate for triadin knockout syndrome and reveals a novel primate-specific cardiac TRDN transcript

Published:2020-06 Issue:6 Volume:17 Page:1017-1024
ISSN:1547-5271
Container-title:Heart Rhythm
language:en
Short-container-title:Heart Rhythm

Author:

Clemens Daniel J.,Tester David J.,Marty Isabelle,Ackerman Michael J.

Funder

Mayo Clinic

Publisher

Elsevier BV

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine

Reference23 articles.

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2. Identification of triadin 1 as the predominant triadin isoform expressed in mammalian myocardium;Kobayashi;J Biol Chem,1999

3. Biochemical characterization and molecular cloning of cardiac triadin;Guo;J Biol Chem,1996

4. New roles of calsequestrin and triadin in cardiac muscle;Knollmann;J Physiol,2009

5. Triadin regulates cardiac muscle couplon structure and microdomain Ca2+ signalling: a path towards ventricular arrhythmias;Chopra;Cardiovasc Res,2013

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1. EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias;European Journal of Human Genetics;2023-07-13

2. Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes;Stem Cell Reports;2023-05

3. The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease;Frontiers in Cardiovascular Medicine;2022-06-15

4. Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant;Heart Rhythm;2022-06

5. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing;Frontiers in Genetics;2022-01-24