Results 41 to 50 of about 9,256 (240)

Sudden cardiac death in young athletes: Literature review of molecular basis [PDF]

, 2020
Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue ...
Barbara Lombardo, Bruno Mirra, Cristina Mazzaccara, Ferdinando Barretta, Giulia Frisso, Olga Scudiero   +5 more
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Integration of genetics into a systems model of electrocardiographic traits using humanCVD BeadChip [PDF]

, 2012
<p>Background—Electrocardiographic traits are important, substantially heritable determinants of risk of arrhythmias and sudden cardiac death.</p> <p>Methods and Results—In this study, 3 population-based cohorts (n=10 526) genotyped ...
Adeniran, I., Amuzu, A., Braund, P.S., Burton, P.R., Casas, J.-P., Day, I.N.M., Drenos, F., Eriksson, P., Folkersen, L., Gaunt, T.R., Hancox, J.C., Hingorani, A.D., Humphries, S.E., Kivimaki, M., Kumari, M., Lawlor, D.A., Macfarlane, P.W., Nelson, C.P., Samani, N.J., Shah, S., Talmud, P.J., Tobin, M.D., Tomaszewski, M., Whittaker, J., Zhang, H.   +24 more
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Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication

Frontiers in Genetics, 2022
Background: Pathogenic mutations in the KCNH2 gene were associated with long QT syndrome 2 (LQT2), which typically manifest in a prolonged QT interval and may lead to recurrent syncopes, seizure, or sudden death.
Jianlong Zhuang, Chunnuan Chen, Yuanbai Wang, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Yingjun Xie, Yingjun Xie, Gaoxiong Wang   +8 more
doaj   +1 more source

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
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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
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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity [PDF]

, 2015
BACKGROUND: With the advent of affordable and comprehensive sequencing technologies, access to molecular genetics for clinical diagnostics and research applications is increasing.
Balding, DJ, Cook, SA, Ruklisa, D, Walsh, R, Ware, JS   +4 more
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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

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

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