Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.E7K
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TRPM4

NM_017636.4:p.E7K

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

40359255 (PubMed )
Supplement: euaf103_supplementary_data.xls › Supplemental_Table_1

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.

Sambuughin N et al.

International Journal of Molecular Sciences, 2024

39457051 (PubMed )
Supplement: ijms-25-11269-s001.zip › Supplemental_Materials.pdf

The odyssey of the TR(i)P journey to the cellular membrane.

Rivera B et al.

Frontiers in Cell and Developmental Biology, 2024

The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution.

Palladino A et al.

Genes, 2022

Theoretical Investigation of the Mechanism by which A Gain-of-Function Mutation of the TRPM4 Channel Causes Conduction Block.

Hu Y et al.

International Journal of Molecular Sciences, 2021

TRP channels in health and disease at a glance.

Yue L et al.

Journal of Cell Science, 2021

An Arrhythmic Mutation E7K Facilitates TRPM4 Channel Activation via Enhanced PIP2 Interaction.

Hu Y et al.

Cells, 2021

Deletion of Trpm4 Alters the Function of the Nav1.5 Channel in Murine Cardiac Myocytes.

Ozhathil LC et al.

International Journal of Molecular Sciences, 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

Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.

Wang H et al.

The Journal of Investigative Dermatology, 2019

Aberrant Deactivation-Induced Gain of Function in TRPM4 Mutant Is Associated with Human Cardiac Conduction Block.

Xian W et al.

Cell Reports, 2018

Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability.

Bianchi B et al.

Frontiers in Physiology, 2018

The S4---S5 linker - gearbox of TRP channel gating.

Hofmann L et al.

Cell Calcium, 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

Inherited progressive cardiac conduction disorders.

Baruteau AE et al.

Current Opinion in Cardiology, 2015

Trpm4 gene invalidation leads to cardiac hypertrophy and electrophysiological alterations.

Demion M et al.

Plos One, 2014

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

TRPM4-linked isolated cardiac conduction defects: bad trafficking causes electrical gridlock.

Mills RW et al.

Circulation. Cardiovascular Genetics, 2010

Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.

Kruse M et al.

The Journal of Clinical Investigation, 2009

Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch.

Brink PA et al.

Cardiovascular Journal of Africa, 0

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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."