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
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.
Sambuughin N et al.
International Journal of Molecular Sciences, 2024
The odyssey of the TR(i)P journey to the cellular membrane.
Rivera B et al.
Frontiers in Cell and Developmental Biology, 2024
A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.
Levitas A et al.
International Journal of Molecular Sciences, 2023
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 2023
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution.
Palladino A et al.
Genes, 2022
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer.
Fernández-Rozadilla C et al.
Scientific Reports, 2021
Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block.
Dong Y et al.
Biomed Research International, 2021
Domain zipping and unzipping modulates TRPM4's properties in human cardiac conduction disease.
Xian W et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
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
Functional characterization of TRPM4 variants identified in sudden unexpected natural death.
Subbotina E et al.
Forensic Science International, 2018
Aberrant Deactivation-Induced Gain of Function in TRPM4 Mutant Is Associated with Human Cardiac Conduction Block.
Xian W et al.
Cell Reports, 2018
Identification of potent and selective small molecule inhibitors of the cation channel TRPM4.
Ozhathil LC et al.
British Journal of Pharmacology, 2018
The S4---S5 linker - gearbox of TRP channel gating.
Hofmann L et al.
Cell Calcium, 2017
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 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
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
The genetic component of Brugada syndrome.
Nielsen MW et al.
Frontiers in Physiology, 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