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Gain-of-function KCNH2 mutations in patients with Brugada syndrome

Gain-of-function KCNH2 mutations in patients with Brugada syndrome
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Suppression and Replacement Gene Therapy for KCNH2 -Mediated Arrhythmias

Circulation: Genomic and Precision Medicine, 2022
Background: KCNH2 -mediated arrhythmia syndromes are caused by loss-of-function (type 2 long QT syndrome [LQT2]) or gain-of-function (type 1 short QT syndrome [SQT1]) pathogenic variants in the KCNH2 -encoded K v 11.1 potassium channel, which ...
Sahej Bains, Wei Zhou, Steven M. Dotzler, Katherine Martinez, CS John Kim, David J. Tester, Dan Ye, Michael J. Ackerman   +7 more
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Role of the R1135H KCNH2 mutation in Brugada syndrome

International Journal of Cardiology, 2010
Abstract Recently, a novel mutation, R1135H, in KCNH2 , the gene encoding the α-subunit of the rapid delayed rectifier K + channel ( I Kr ), has been identified in a patient with short QT interval as well as Brugada-type ECG. Voltage clamp experiments revealed larger tail currents and slowed deactivation of mutant I Kr channels.
Wilders, Ronald, Verkerk, Arie O.
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KCNH2 polymorphism and methadone dosage interact to enhance QT duration

Drug and Alcohol Dependence, 2014
Many drugs increase the duration of the QT interval of patients, potentially leading to harmful effects such as polymorphic ventricular arrhythmias. Most of these drugs do so by inhibiting the rapid component IKr of the delayed rectifier potassium current IK.
Aline, Hajj, Kamilia, Ksouda, Katell, Peoc'h, Emmanuel, Curis, Anne, Messali, Laurence Labat, Deveaux, Vanessa, Bloch, Nathalie, Prince, Stéphane, Mouly, Jean-Michel, Scherrmann, Jean-Pierre, Lépine, Jean-Louis, Laplanche, Milou-Daniel, Drici, Florence, Vorspan   +13 more
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Identification and expression analysis of kcnh2 genes in the zebrafish

Biochemical and Biophysical Research Communications, 2010
Long QT syndrome is a disorder that is characterised by a prolonged QT-interval and can lead to fatal cardiac arrhythmias. Many animal models have been created to study congenital long QT syndrome. Of these, zebrafish models have involved targeting two different KCNH2 gene (long QT syndrome 2) orthologues, termed zerg-2 and zerg-3, with differing ...
Ivone Un San, Leong, Jonathan R, Skinner, Andrew N, Shelling, Donald R, Love   +3 more
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Regulation of HERG (KCNH2) potassium channel surface expression by diacylglycerol

Cellular and Molecular Life Sciences, 2009
The HERG (KCNH2) channel is a voltage-sensitive potassium channel mainly expressed in cardiac tissue, but has also been identified in other tissues like neuronal and smooth muscle tissue, and in various tumours and tumour cell lines. The function of HERG has been extensively studied, but it is still not clear what mechanisms regulate the surface ...
Cia, Ramström, Hugh, Chapman, Tero, Viitanen, Emad, Afrasiabi, Heli, Fox, Johanna, Kivelä, Sanna, Soini, Laura, Korhonen, Dan, Lindholm, Michael, Pasternack, Kid, Törnquist   +10 more
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Expression and function of KCNH2 (HERG) in the human jejunum

American Journal of Physiology-Gastrointestinal and Liver Physiology, 2003
Previous studies suggest that ether-a-go-go related gene (ERG) KCNH2 potassium channels contribute to the control of motility patterns in the gastrointestinal tract of animal models. The present study examines whether these results can be translated into a role in human gastrointestinal muscles.
Farrelly, A. M., Ro, S., Callaghan, B. P., Khoyi, M. A., Fleming, N., Horowitz, B., Sanders, K. M., Keef, K. D.   +7 more
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Congenital long QT syndrome with compound mutations in the KCNH2 gene

Heart and Vessels, 2013
Congenital long QT syndrome is a genetic disorder encompassing a family of mutations that can lead to aberrant ventricular electrical activity. We report on two brothers with long QT syndrome caused by compound mutations in the KCNH2 gene inherited from parents who had no prolonged QT interval on electrocardiography.
Sachiko, Bando, Takeshi, Soeki, Tomomi, Matsuura, Toshiyuki, Niki, Takayuki, Ise, Koji, Yamaguchi, Yoshio, Taketani, Takashi, Iwase, Hirotsugu, Yamada, Tetsuzo, Wakatsuki, Masashi, Akaike, Takeshi, Aiba, Wataru, Shimizu, Masataka, Sata   +13 more
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Gain‐of‐Function KCNH2 Mutations in Patients with Brugada Syndrome

Journal of Cardiovascular Electrophysiology, 2014
Novel KCNH2 Mutations in Brugada SyndromeBackgroundBrugada syndrome (BrS) is an inherited disease characterized by right precordial ST segment elevation on electrocardiograms (ECGs) that predisposes patients to sudden cardiac death as a result of polymorphic ventricular tachyarrhythmia or ventricular fibrillation (VF). In BrS patients, except for SCN5A,
Q I, Wang, Seiko, Ohno, Wei-Guang, Ding, Megumi, Fukuyama, Akashi, Miyamoto, Hideki, Itoh, Takeru, Makiyama, Jie, Wu, Jiayu, Bai, Kanae, Hasegawa, Tetsuji, Shinohara, Naohiko, Takahashi, Akihiko, Shimizu, Hiroshi, Matsuura, Minoru, Horie   +14 more
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hERG (KCNH2 or Kv11.1) K+ Channels: Screening for Cardiac Arrhythmia Risk

Current Drug Metabolism, 2008
Testing new compounds for pro-arrhythmic potential has focused in recent years on avoiding activity at the hERG K+ channel, as hERG block is a common feature of many pro-arrhythmic compounds associated with Torsades de Pointes in humans. Blockers of hERG are well known to prolong cardiac action potentials and lead to long QT syndrome, and activators ...
Mark R, Bowlby, Ravi, Peri, Howard, Zhang, John, Dunlop   +3 more
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