Results 51 to 60 of about 6,848 (166)

Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes

International Journal of Molecular Sciences, 2022
The electrocardiogram (ECG) empowered clinician scientists to measure the electrical activity of the heart noninvasively to identify arrhythmias and heart disease.
P. Kekenes-Huskey, D. Burgess, Bin Sun, Daniel C Bartos, E. Rozmus, C. Anderson, C. January, L. Eckhardt, B. Delisle   +8 more
semanticscholar   +1 more source

Size‐Modulated Mesoderm‐Endoderm Divergence and Myocardial Cavitation in Micropatterned Cardioids

Advanced Science, EarlyView.
Micropatterned cardioids, CRISPR‐engineered reporter hiPSCs, deep‐tissue imaging, and single‐cell RNA sequencing are integrated to model mesoderm‐endoderm co‐development. Heart‐foregut crosstalk promotes single large cavitation inside cardioids, resembling early heart chamber formation. ABSTRACT The human heart, originating from the splanchnic mesoderm,
Plansky Hoang, David W. McKellar, Andrew Kowalczewski, Nhu Y. Mai, Meng Chai, Xiaojun L. Lian, Yi Zheng, Jeffrey Amack, Nathan Tucker, Iwijn De Vlaminck, Huaxiao Yang, Benjamin D. Cosgrove, Zhen Ma   +12 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

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

A calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome

bioRxiv, 2021
Purpose Modern sequencing technologies have revolutionised our detection of gene variants. In most genes, including KCNH2, the majority of missense variants are currently classified as variants of uncertain significance (VUS). The aim of this study is to
Connie Jiang, E. Richardson, Jessica Farr, A. Hill, R. Ullah, B. Kroncke, S. Harrison, K. Thomson, J. Ingles, J. Vandenberg, C. Ng   +10 more
semanticscholar   +1 more source

Variable electrophysiology before and after block of the two delayed rectifier potassium channels in groups of isolated rabbit ventricular cells

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Between‐cell differences in ventricular cardiomyocyte action potential duration (APD) and responses to ion channel block may contribute to pro‐arrhythmic dispersion of myocardial repolarisation. This study quantifies between‐cell physiological and pharmacological variability in the rabbit left ventricle (LV) and uses ...
Rebecca J. Gilchrist, Muhamad Hifzhudin Noor Aziz, Francis L. Burton, Radostin D. Simitev, Rachel C. Myles, Godfrey L. Smith   +5 more
wiley   +1 more source

KCNH2 encodes a nuclear-targeted polypeptide that mediates hERG1 channel gating and expression

bioRxiv, 2022
KCNH2 encodes hERG1, the voltage-gated potassium channel that conducts the rapid delayed rectifier potassium current (IKr) in human cardiac tissue. hERG1 is one of the first channels expressed during early cardiac development, and its dysfunction is ...
Abhilasha Jain, Olivia Stack, Saba Ghodrati, Francisco G. Sanchez-Conde, Chiamaka U. Ukachukwu, Shreya Salwi, Eric N. Jimenez-Vazquez, David K. Jones   +7 more
semanticscholar   +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

Mefloquine improves pulmonary fibrosis by inhibiting the KCNH2/Jak2/Stat3 signaling pathway in macrophages.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
Idiopathic pulmonary fibrosis (IPF) is a life-threatening disease characterized by severe pulmonary fibrosis, for which there is an urgent need for effective therapeutic agents. Mefloquine (Mef) is a quinoline compound primarily used for the treatment of
Jiawei Zhou, Xuelian Yang, Yafeng Liu, Jianqiang Guo, Ziqin Liu, Yunyun Li, Ying Bai, Yingru Xing, Jing Wu, Dong Hu   +9 more
semanticscholar   +1 more source