Associated Papers
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
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
The odyssey of the TR(i)P journey to the cellular membrane.
Rivera B et al.
Frontiers in Cell and Developmental Biology, 2024
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
Inherited Cardiac Arrhythmia Syndromes: Focus on Molecular Mechanisms Underlying TRPM4 Channelopathies.
Amarouch MY et al.
Cardiovascular Therapeutics, 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
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Sahlin E et al.
Plos One, 2019
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
Novel Alleles of gon-2, a C. elegans Ortholog of Mammalian TRPM6 and TRPM7, Obtained by Genetic Reversion Screens.
Lambie EJ 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