Results 41 to 50 of about 9,233 (239)

Upregulation of Functional Kv11.1 Isoform Expression by Inhibition of Intronic Polyadenylation with Antisense Morpholino Oligonucleotides

, 2012
The KCNH2 gene encodes the Kv11.1 potassium channel that conducts the rapidly activating delayed rectifier current in the heart. KCNH2 pre-mRNA undergoes alternative processing; intron 9 splicing leads to the formation of a functional, full-length Kv11 ...
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +2 more sources

Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation [PDF]

, 2019
Mutations in several genes encoding ion channels can cause the long-QT (LQT) syndrome with cardiac arrhythmias, syncope and sudden death. Recently, mutations in some of these genes were also identified to cause epileptic seizures in these patients, and
Gessner, Guido, Heinemann, Stefan H., Prüss, Harald, Rimpau, Wilhelm, Ruppert, Ann-Katrin, Rüschendorf, Franz, Sander, Thomas, Schulz, Herbert   +7 more
core   +2 more sources

Discovery of Digenic Mutation, KCNH2 c.1898A >C and JUP c.916dupA, in a Chinese Family with Long QT Syndrome via Whole-Exome Sequencing

Cardiovascular Innovations and Applications, 2020
Long QT syndrome (LQTS), which is caused by an ion channel–related gene mutation, is a malignant heart disease with a clinical course of a high incidence of ventricular fibrillation and sudden cardiac death in the young. Mutations in KCNH2 (which encodes
Yafei Zhai, Jinxin Miao, Ying Peng, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong   +7 more
doaj   +1 more source

iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types. [PDF]

, 2017
Large-scale collections of induced pluripotent stem cells (iPSCs) could serve as powerful model systems for examining how genetic variation affects biology and disease.
Adler, Eric, Aguirre, Aitor, Arias, Angelo D, Benaglio, Paola, Berggren, W Travis, Borja, Victor, Chi, Neil C, Cook, Megan, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Dargitz, Carl T, DeBoever, Christopher, Diffenderfer, Kenneth E, Donovan, Margaret KR, Drees, Frauke, Evans, Sylvia M, Farnam, KathyJean, Feiring, Rachel, Frazer, Kelly A, Garcia, Melvin, Goldstein, Lawrence SB, Greenwald, William W, Grinstein, Jonathan D, Harismendy, Olivier, Hashem, Sherin I, Hishida, Yuriko, Izpisua Belmonte, Juan Carlos, Jakubosky, David A, Jepsen, Kristen, Li, He, Loring, Jeanne F, Matsui, Hiroko, McGarry, Thomas J, Miller, Carl A, Modesto, Veronica, Müller, Franz-Josef, Nariai, Naoki, Nelson, Bradley C, O'Connor, Daniel T, Okubo, Jonathan, Panopoulos, Athanasia D, Rao, Fangwen, Reyna, Joaquin, Schuldt, Bernhard M, Smith, Erin N, Williams, Roy, Yeo, Gene W, Zhao, Chang   +47 more
core   +2 more sources

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel

Orphanet Journal of Rare Diseases, 2022
Background Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed “inherited primary arrhythmia syndromes” and “channelopathies”, which lead to sudden cardiac death.
Jia Chen, Hong Li, Sicheng Guo, Zhe Yang, Shaoping Sun, JunJie Zeng, Hongjuan Gou, Yechang Chen, Feng Wang, Yanping Lin, Kun Huang, Hong Yue, Yuting Ma, Yubi Lin   +13 more
doaj   +1 more source

Neonatal death of siblings with Uhl’s disease and KCNH2 mutation - A rare association

Annals of Pediatric Cardiology
ABSTRACT Uhl’s disease is a rare disorder secondary to the uncontrolled destruction of right ventricular myocytes during the perinatal period. We present here the case of a 1-month-old child who died suddenly of Uhl’s disease, which was only diagnosed at autopsy and histological examination.
Francesco Ventura, Rosario Barranco, Francesca Buffelli, Ezio Fulcheri, Domenico Coviello, Antonella Palmieri   +5 more
openalex   +4 more sources

Potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2) [PDF]

Science-Business eXchange, 2009

openalex   +2 more sources

Quercetin is a foe in the heart by targeting the hERG potassium channel [PDF]

Iranian Journal of Basic Medical Sciences
Objective(s): Quercetin is a plant flavonoid known for its pharmacological activities, such as antioxidant, anti-inflammatory, and anti-cancer properties. However, there is limited information available regarding its potential toxicities.
Zihao Lu, Shuwen Li, Rui Wei, Wenwen Li, Yuqian Huang, Tingting Yang, Meng Yan   +6 more
doaj   +1 more source

Systems Pharmacology [PDF]

, 2008
The slides are from a presentation given by Professor Ravi Iyengar from Mount Sinai School of Medicine at the Drug Forum Meeting #9 that took place in Washington, DC on February 20-21, 2008.
Ravi Iyengar
core   +2 more sources

High-throughput discovery of trafficking-deficient variants in the cardiac potassium channelKCNH2: Deep mutational scan ofKCNH2trafficking [PDF]

, 2020
ABSTRACTBackgroundKCHN2encodes the KV11.1 potassium channel responsible forIKr, a major repolarization current during the cardiomyocyte action potential. Variants inKCNH2that decreaseIKrcan cause Type 2 Long QT syndrome, usually due to mistrafficking to the cell surface.
Kozek, Krystian A., Glazer, Andrew M., Ng, Chai-Ann, Blackwell, Daniel, Egly, Christian L., Vanags, Loren R., Blair, Marcia, Mitchell, Devyn, Matreyek, Kenneth A., Fowler, Douglas M., Knollmann, Bjorn C., Vandenberg, Jamie, Roden, Dan M., Kroncke, Brett M.   +13 more
openaire   +1 more source