G-Protein coupled receptor signalling in pluripotent stem cell-derived cardiovascular cells: Implications for disease modelling [PDF]
Human pluripotent stem cell derivatives show promise as an in vitro platform to study a range of human cardiovascular diseases. A better understanding of the biology of stem cells and their cardiovascular derivatives will help to understand the strengths
Dolatshad, NF +4 more
core +1 more source
The potassium voltage-gated channel subfamily H member 2 (KCNH2) gene encodes the Kv11.1 potassium channel, which conducts the rapidly activating delayed rectifier current in the heart.
Gong, Qiuming +2 more
core
Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study [PDF]
BACKGROUND: Heritable electrocardiographic (ECG) and heart rate variability (HRV) measures, reflecting pacemaking, conduction, repolarization and autonomic function in the heart have been associated with risks for cardiac arrhythmias.
Guo, Chao-Yu +5 more
core +4 more sources
Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China [PDF]
BACKGROUND: Individual response to medications varies significantly among different populations, and great progress in understanding the molecular basis of drug action has been made in the past 50 years.
Chao Chen +7 more
core +1 more source
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance [PDF]
Jaël S. Copier +17 more
openalex +3 more sources
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. [PDF]
BACKGROUND: Genetic predisposition to life-threatening cardiac arrhythmias such as congenital long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) represent treatable causes of sudden cardiac death in young adults and ...
Aiba, T. +38 more
core +1 more source
Aborted Cardiac Arrest in LQT2 Related to Novel KCNH2 (hERG) Variant Identified in One Lithuanian Family [PDF]
Neringa Bileišienė +7 more
openalex +1 more source
High-throughput discovery of trafficking-deficient variants in the cardiac potassium channelKCNH2: Deep mutational scan ofKCNH2trafficking [PDF]
Krystian A. Kozek +27 more
openalex +1 more source
FUNDAMENTO: A síndrome do QT longo (SQTL) é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa ...
Ernesto Curty +7 more
doaj
Selective acquired long QT syndrome (saLQTS) upon risperidone treatment
Background Numerous structurally unrelated drugs, including antipsychotics, can prolong QT interval and trigger the acquired long QT syndrome (aLQTS). All of them are thought to act at the level of KCNH2, a subunit of the potassium channel.
Lazarczyk Maciej +3 more
doaj +1 more source

