Results 81 to 90 of about 9,233 (239)
Key role for Kv11.1 (ether‐a‐go‐go related gene) channels in rat bladder contractility
Physiological Reports, 2023 In addition, to their established role in cardiac myocytes and neurons, ion channels encoded by ether‐a‐go‐go‐related genes (ERG1‐3 or kcnh2,3 and 6) (kcnh2) are functionally relevant in phasic smooth muscle.
Vincenzo Barrese +7 more
doaj +1 more source
Frontiers in Physiology, 2021 Genetic mutations in genes encoding for potassium channel protein structures have been recently associated with episodes of atrial fibrillation in asymptomatic patients.
Rebecca Belletti +5 more
doaj +1 more source
Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations [PDF]
, 2016 Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processing, leading to nuclear lamina alterations, severe cardiovascular pathology, and premature death.
Benítez Iglesias, Raúl +14 more
core +2 more sources
Annals of Noninvasive Electrocardiology, Volume 31, Issue 1, January 2026.Sex hormones significantly influence ventricular repolarization in women treated with QT‐prolonging drugs, with estrogen prolonging and progesterone/testosterone shortening QT measures. These findings highlight a hormonal mechanism for sex‐specific arrhythmia risk and support closer monitoring of reproductive‐age women receiving QT‐prolonging therapies.
Aneliya San +11 more
wiley +1 more source
, 2014 The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming +2 more
core +1 more source
Clinical and Translational Science, Volume 19, Issue 1, January 2026.ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen +3 more
wiley +1 more source
Stem Cell Research, 2020 The hereditary Long QT syndrome (LQTS) is a life-threaten channelopathy of the heart characterized by prolonged QT intervals and predisposition to occur polymorphic ventricular tachyarrhythmias.
Xiaodan Wu, Yitong Zhao, Xiantao Wang
doaj +1 more source
Genotype-Phenotype Relationships in Long QT Syndrome : Role of Mental Stress, Adrenergic Activity and a Common KCNH2 Polymorphism [PDF]
, 2006 Long QT syndrome is a congenital or acquired arrhythmic disorder which manifests as a prolonged QT-interval on the electrocardiogram and as a tendency to develop ventricular arrhythmias which can lead to sudden death.
Paavonen, Kristian
core
Genetics Research , Volume 2026, Issue 1, 2026.Background Osteoarthritis (OA) is a complex, progressive joint disease characterized by cartilage degradation and inflammation. Traditional bulk tissue analyses have limited our understanding of the cellular diversity within OA tissues. Methods This study employed scRNA‐seq and integrated bioinformatic analyses to investigate the cellular composition ...
Tiantian Gao +8 more
wiley +1 more source
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death [PDF]
Forensic Science, Medicine and Pathology, 2018 We report a case of a woman who experienced intrauterine fetal death at full term pregnancy, and then died suddenly soon after learning about the death of her fetus. At autopsy, previously undiagnosed neurofibromatosis and an adrenal gland pheochromocytoma were discovered in the mother.
Tuveng, Jon M. +7 more
openaire +3 more sources