Results 31 to 40 of about 313 (129)

Knock-in Kcnh2 rabbit model of long QT syndrome type-2, epilepsy, and sudden death

Journal of Translational Medicine
Background Long QT Syndrome Type-2 (LQT2) is due to loss-of-function KCNH2 variants. KCNH2 encodes Kv11.1 that forms a delayed-rectifier potassium channel in the brain and heart.
Veronica Singh, Kyle T. Wagner, Laura G. Williams, Justin M. Ryan, Katherine R. Keller, Jonathan D. Mohnkern, Robert S. Gardner, Louis T. Dang, Julie M. Ziobro, Richard J. H. Wojcikiewicz, Nathan R. Tucker, David S. Auerbach   +11 more
doaj   +1 more source

Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early‐onset long QT syndrome and sinoatrial node dysfunction

Annals of Noninvasive Electrocardiology, 2022
Introduction Long QT syndrome (LQTS) is a life‐threatening inherited channelopathy, and prolonged QT intervals easily trigger malignant arrhythmias, especially torsades de pointes and ventricular fibrillation.
Zhe Yang, Yuting Ma, Jiana Huang, Jianzhong Xian, Yin Huang, Linbo Wu, WenLiang Zhu, Feng Wang, Liang Chen, Xiufang Lin, Yubi Lin   +10 more
doaj   +1 more source

Microbial metabolite indole‐3‐propionic acid preserves astrocytic mitochondrial mitofusin 2 to limit neuroinflammation after traumatic brain injury

Interdisciplinary Medicine, EarlyView.
Following traumatic brain injury, indole‐3‐propionic acid (IPA) directly targets the aryl hydrocarbon receptor on astrocytes in the peri‐lesional cortex; this suppresses interferon regulatory factor 1‐driven transcription of the E3 ubiquitin ligase RFFL (ring finger and FYVE‐like domain containing E3 ubiquitin protein ligase).
Ziwen Zhang, Kai Wang, Liangbo Wang, Wencong Li, Hao Guo, Meng Xu, Tinghao Wang, Jiahui Ren, Ting Zhu, Jiahui Wang, Wenxing Cui, Jinpeng Zhou, Yang Tian, Liying Han, Chengxuan Guo, Shuoyao Ma, Qiang Wang, Zhihong Li, Yaning Cai, Jingyu Dong, Xun Wu, Haixiao Liu, Yan Qu   +22 more
wiley   +1 more source

Circulating KCNH2 current-activating factor in patients with heart failure and ventricular tachyarrhythmia. [PDF]

PLoS ONE, 2011
It is estimated that approximately half of the deaths in patients with HF are sudden and that the most likely causes of sudden death are lethal ventricular tachyarrhythmias such as ventricular tachycardia (VT) or fibrillation (VF).
Hiroki Sugiyama, Kazufumi Nakamura, Hiroshi Morita, Satoshi Akagi, Yoshinori Tani, Yusuke Katayama, Nobuhiro Nishii, Toru Miyoshi, Satoshi Nagase, Kunihisa Kohno, Kengo Fukushima Kusano, Tohru Ohe, Junko Kurokawa, Tetsushi Furukawa, Hiroshi Ito   +14 more
doaj   +1 more source

Signal detection and characterisation of a novel drug–drug interaction between methadone and a synthetic cannabinoid receptor agonist

British Journal of Pharmacology, EarlyView.
Background and Purpose Little is known about how synthetic cannabinoid receptor agonist (SCRA) co‐use with other psychoactive substances may exacerbate risk of death. This study aimed to characterise the polypharmacy of deaths where SCRAs were detected at post‐mortem, investigate the cardiotoxicity of SCRAs and probe their inhibition of human ether‐a ...
Kirsten L. Rock, Louise M. Hesketh, Hongwei Cheng, Shuoqi Chen, Simon Hudson, Graeme Henderson, Jules C. Hancox, Michael J. Shattock, Michael J. Curtis, Caroline S. Copeland   +9 more
wiley   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, EarlyView.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

Establishment of a human-induced pluripotent stem cell line, KSCBi014-A, from a long QT syndrome type 2 patient harboring a KCNH2 mutation

Stem Cell Research, 2021
Long QT syndrome type 2 (LQT2) is a heart disorder caused by a loss-of-function mutation in the KCNH2 gene that is an essential factor in cardiac repolarization and affects the heart rate. This study has generated a human-induced stem cell line (KSCBi014-
Youngsun Lee, Soo Kyung Koo, Jung-Hyun Kim   +2 more
doaj   +1 more source

Cellular mechanisms of radiation‐induced myocyte dysfunction: effects on calcium handling, ion channel regulation and mitochondrial energetics

The Journal of Physiology, EarlyView.
Abstract figure legend Dose‐dependent effects of radiation on cardiac electrophysiology and arrhythmia susceptibility. At low radiation doses (left), increased reactive oxygen species (ROS) initiate an ROS–Ca2+ positive feedback loop involving calcium/calmodulin‐dependent protein kinase II (CaMKII) activation, enhanced L‐type Ca2+ current (ICaL ...
Hannah M. Zukowski, Colleen E. Clancy
wiley   +1 more source

Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report

Frontiers in Genetics
IntroductionLong QT syndrome (LQTS) is an autosomal dominant inherited cardiac condition characterized by a QT interval prolongation and risk of sudden death. There are 17 subtypes of this syndrome associated with genetic variants in 11 genes. The second
Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Patricia Guevara-Ramirez, Santiago Cadena-Ullauri, Elius Paz-Cruz, Viviana A. Ruiz-Pozo, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ana Karina Zambrano   +9 more
doaj   +1 more source

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Human Molecular Genetics, 2022
Abstract Background: Variants in KCNH2, encoding the human ether a-go-go (hERG) channel that is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to long QT syndrome type 2 (LQTS2). We identified eight index patients with a new variant of unknown significance (VUS), KCNH2:c.2717C >
J.S. Copier, M. Bootsma, C. Ng, A.A.M. Wilde, R.A. Bertels, H. Bikker, I. Christiaans, S.N. van der Crabben, J.A. Hol, T.T. Koopmann, J. Knijnenburg, A.A.J. Lommerse, J.J. van der Smagt, C.R. Bezzina, J.I. Vandenberg, A.O. Verkerk, D.Q.C.M. Barge-Schaapveld, E.M. Lodder   +17 more
openaire   +9 more sources