Associated Papers
Persistent activation of TRPM4 triggers necrotic cell death characterized by sodium overload.
Fu W et al.
Nature Chemical Biology, 2025
Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.
Shah RA et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025
IMPACT OF ABCC8 AND TRPM4 GENETIC VARIATION IN CENTRAL NERVOUS SYSTEM DYSFUNCTION ASSOCIATED WITH PEDIATRIC SEPSIS.
Kernan KF et al.
Shock (augusta, Ga.), 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
The odyssey of the TR(i)P journey to the cellular membrane.
Rivera B et al.
Frontiers in Cell and Developmental Biology, 2024
Role of genetic testing in young patients with idiopathic atrioventricular conduction disease.
Auricchio A et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2023
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 2023
The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution.
Palladino A et al.
Genes, 2022
The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.
Vanzo RJ et al.
Journal of Personalized Medicine, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Molecular and genetic insights into progressive cardiac conduction disease.
Asatryan B et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2019
Aberrant Deactivation-Induced Gain of Function in TRPM4 Mutant Is Associated with Human Cardiac Conduction Block.
Xian W et al.
Cell Reports, 2018
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
TRPM4 non-selective cation channel variants in long QT syndrome.
Hof T et al.
Bmc Medical Genetics, 2017
Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block.
Syam N et al.
Journal of the American Heart Association, 2016
Recent advances in therapeutic strategies that focus on the regulation of ion channel expression.
Ohya S et al.
Pharmacology & Therapeutics, 2016
Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.
Daumy X et al.
International Journal of Cardiology, 2016
Casein kinase-mediated phosphorylation of serine 839 is necessary for basolateral localization of the Ca²⁺-activated non-selective cation channel TRPM4.
Cerda O et al.
Pflugers Archiv : European Journal of Physiology, 2015
Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.
Celestino-Soper PB et al.
Plos One, 2015
Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel.
Liu H et al.
Plos One, 2013
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.
Stallmeyer B et al.
Human Mutation, 2012
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease.
Liu H et al.
Circulation. Cardiovascular Genetics, 2010
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.
Gualandi F et al.
Cardiology, 0