Results 31 to 40 of about 2,693,618 (154)

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

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation

Frontiers in Genetics, 2022
Background: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, long QT syndrome (LQTS) is a rare ion channel disease, and simultaneous occurrence of both is even rarer.
Hairui Sun, Xiaowei Liu, Xiaoyan Hao, Xiaoxue Zhou, Jingyi Wang, Jiancheng Han, Mengmeng Liang, Hongjia Zhang, Yihua He   +8 more
doaj   +1 more source

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 ...
Nelson, C.P., Whittaker, John, Kumari, Meena, Folkersen, Lasse, Lasse Folkersen, Drenos, F., Drenos, Fotios, Kumari, M., Nelson, Christopher P, Amuzu, A., Mika Kivimaki, Nilesh J. Samani, Braund, P.S., Folkersen, L., Whittaker, J., Juan-Pablo Casas, John Whittaker, Eriksson, Per, Burton, P.R., Christopher P. Nelson, Meena Kumari, Zhang, H., Tom R. Gaunt, Debbie A. Lawlor, Casas, J.-P., Peter S. Braund, Adeniran, Ismail, Samani, Nilesh J, Sonia Shah, Samani, N.J., Antoinette Amuzu, Amuzu, Antoinette, Humphries, S.E., Zhang, Henggui, Henggui Zhang, Philippa J. Talmud, Day, I.N.M., Hancox, Jules C, Hancox, J.C., Tomaszewski, M., Hingorani, Aroon D, Burton, Paul R, Maciej Tomaszewski, Lawlor, D.A., Jules C. Hancox, Ian N.M. Day, Steve E. Humphries, Kivimaki, Mika, Kivimaki, M., Tobin, Martin D, Lawlor, Debbie A, Hingorani, A.D., Per Eriksson, Eriksson, P., Tomaszewski, Maciej, Peter W. Macfarlane, Humphries, Steve E, Shah, S., Ismail Adeniran, Day, Ian NM, Macfarlane, P.W., Martin D. Tobin, Paul R. Burton, Day, Ian N M, Gaunt, Tom R, Macfarlane, Peter W, Adeniran, I., Fotios Drenos, Shah, Sonia, Talmud, Philippa J, Gaunt, T.R., Tobin, M.D., Casas, Juan-Pablo, Talmud, P.J., Braund, Peter S, Tomaszewski, Maciej; id_orcid, Aroon D. Hingorani, Nelson, CP, Tobin, M., Hancox, Jules C., Casas, J-P, Shah, S, Casas, J., Drenos, F, Folkersen, L, Samani, Nilesh J., Burton, Paul R., Nelson, C., Hancox, J., Talmud, Philippa J., Macfarlane, Peter W., Gaunt, TR, Braund, P., Lawlor, D., Lawlor, DA, Gaunt, T., Burton, P., et al., Braund, Peter S., Day, Ian N.M., Adeniran, I, Tobin, Martin D., Humphries, S., Talmud, P., Lawlor, Debbie A., Amuzu, A, Braund, PS, Hingorani, Aroon D., Humphries, Steve E.   +108 more
core   +1 more source

Congenital Long QT Syndrome with Compound Mutations in KCNH2 Gene

Journal of Arrhythmia, 2011
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, Toshiyuki Niki, Kenya Kusunose, Koji Yamaguchi, Yoshio Taketani, Iwase Takashi, Hirotsugu Yamada, Tetsuzo Wakatsuki, Wataru Simizu, Masataka Sata   +10 more
openaire   +1 more source

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode

Frontiers in Genetics
BackgroundLong QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H Member 2 (KCNH2) gene are known to cause Long QT syndrome through an autosomal ...
Peng Chen, Peng Chen, Zainul Zampawala, Hong Wang, Luyun Wang   +4 more
doaj   +1 more source

Congenital Long QT Syndrome, Coinciding With Cavitary Mycobacterium avium Lung Infection, Led to Cardiac Arrest

JACC: Case Reports, 2023
Congenital long QT syndrome is a cardiac disorder leading to arrhythmias and sudden cardiac death. We present a case of a 55-year-old woman with altered mental status experiencing cardiac arrest caused by congenital long QT syndrome, coincidentally found
Muhammad Ghallab, MD, Nazaakat Ahmed, MD, Zakaria Alagha, MD, Daniel Miller, MD, Nso Nso, MD, Most Sirajum Munira, MD   +5 more
doaj   +1 more source

A rare KCNE1 polymorphism, D85N, as a genetic modifier of long QT syndrome

Journal of Arrhythmia, 2014
Background: The gene KCNE1 encodes the β-subunit of cardiac voltage-gated K+ channels and causes long QT syndrome (LQTS). LQTS is characterized by the prolongation of QT interval and lethal arrhythmias such as torsade de pointes (TdP).
Kanae Hasegawa, MD, Seiko Ohno, MD, PhD, Hideki Itoh, MD, PhD, Takeru Makiyama, MD, PhD, Takeshi Aiba, MD, PhD, Yasutaka Nakano, MD, PhD, Wataru Shimizu, MD, PhD, Hiroshi Matsuura, MD, PhD, Naomasa Makita, MD, PhD, Minoru Horie, MD, PhD   +9 more
doaj   +1 more source

Molecular cloning and functional expression of the equine K+ channel KV11.1 (ether à go-go-related/KCNH2 gene) and the regulatory subunit KCNE2 from equine myocardium Figure 9

, 2015
Molecular cloning and functional expression of the equine K+ channel KV11.1 (ether à go-go-related/KCNH2 gene) and the regulatory subunit KCNE2 from equine ...
Kirstine Calloe (790540)
core   +1 more source

AAV9-mediated KCNH2 suppression-replacement gene therapy in a transgenic rabbit model of type 1 short QT syndrome.

Background And Aims Type 1 short QT syndrome (SQT1) is a genetic channelopathy caused by gain-of-function variants in KCNH2. This shortens cardiac repolarization and QT intervals, predisposing patients to ventricular arrhythmias and sudden cardiac death.
Ördög, Balázs, Garcia Casalta, Luisana Gisela, Alerni, Nicolò, Tester, David J, Nimani, Saranda, Bego, Mariana, Christoforou, Nicolas, Casoni, Daniela, Lopez, Ruben, Pinkstaff, Jason, Meier, Stefan, Ye, Dan, Beslac, Olgica, Barbieri, Miriam, Perez-Feliz, Stefanie, Bains, Sahej, Zehender, Manfred, Louradour, Julien, Brunner, Michael, Egle, Manuel, Matas, Lluis, Vashanthakumar, Varjany, Keyes, Lisa, Horváth, András, Giammarino, Lucilla, Praz, Fabien, Parodi, Chiara, Christoph, Jan, Heijman, Jordi, Zhou, Wei, Jurgensen, Jacqulyn, Kim, C S John, Ackerman, Michael J, Brooks, Gabriel, Haeberlin, Andreas, Owens, Jane, Odening, Katja E., Barry, Michael A   +37 more
core   +2 more sources

Key role for Kv11.1 (ether‐a‐go‐go related gene) channels in rat bladder contractility

Physiological Reports, 2023
In addition, to their established role in cardiac myocytes and neurons, ion channels encoded by ether‐a‐go‐go‐related genes (ERG1‐3 or kcnh2,3 and 6) (kcnh2) are functionally relevant in phasic smooth muscle.
Vincenzo Barrese, Zena Wehbe, Alice Linden, Sarah McDowell, Elizabeth Forrester, Oleksander Povstyan, Karen D. McCloskey, Iain A. Greenwood   +7 more
doaj   +1 more source