Results 61 to 70 of about 10,273 (224)

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, Ezekiel R Rozmus, C. Anderson, C. January, L. Eckhardt, B. Delisle   +8 more
semanticscholar   +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

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
core   +4 more sources

Comprehensive translational assessment of human-induced pluripotent stem cell derived cardiomyocytes for evaluating drug-induced arrhythmias [PDF]

, 2016
Induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) hold promise for assessment of drug-induced arrhythmias and are being considered for use under the comprehensive in vitro proarrhythmia assay (CiPA).
Blinova, Ksenia, Brock, Mathew, Chan, Dulciana, Chvatal, Stacie, Crumb, William J., Galeotti, Loriano, Hortigon-Vinagre, Maria P., Johannesen, Lars, Lyn-Cook, Beverly, Millard, Daniel, Pang, Li, Ross, James, Smith, Godfrey, Stockbridge, Norman, Stohlman, Jayna, Strauss, David G., Vicente, Jose, Zamora Rodriguez, Victor   +17 more
core   +1 more source

KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort

Life, 2022
Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated with susceptibility to ventricular arrhythmias due to malfunction of ion channels in cardiomyocytes, that could lead to sudden death (SD).
R. Lorca, Alejandro Junco-Vicente, Alicia Pérez-Pérez, I. Pascual, Yvan R. Persia-Paulino, Francisco González-Urbistondo, E. Cuesta-Llavona, Bárbara C. Fernández-Barrio, C. Morís, J. Rubín, E. Coto, Juan Gómez, J. J. R. Reguero   +12 more
semanticscholar   +1 more source

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. [PDF]

, 2017
BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology.
Ackerman, Aken, Antzelevitch, Arthur A.M. Wilde, Bagnall, Bagnall, Bee Y. Soh, Behr, Behr, Behr, Bezzina, Bezzina, Bo G. Winkel, Cerrone, Chee J. Pua, Christian van der Werf, Connie R. Bezzina, Della Cole, Donald R. Love, Efstathios Papatheodorou, Elijah R. Behr, Elisabeth M. Lodder, Gladding, Greg Mellor, Hariharan Raju, Hayashi, Herman, Hertz, Jackie Crawford, Jacob Tfelt-Hansen, James S. Ware, Jan Till, Jaydutt D. Bhalshankar, Jonathan R. Skinner, Kircher, Lahrouchi, Maria Tome-Esteban, Marta C. Cohen, Mary N. Sheppard, Mellor, Methner, Michael Papadakis, Miles, Najim Lahrouchi, Nunn, Priori, Pua, Rafik Tadros, Richards, Risha Govind, Rizzo, Sanjay Sharma, Semsarian, Skinner, Stuart A. Cook, Task Force for the Diagnosis and Management of Syncope, European Society of Cardiology (ESC), European Heart Rhythm Association (EHRA), Walsh, Wang, Winkel, Wu, Yanushi D. Wijeyeratne, Zhan   +61 more
core   +3 more sources

Population-specific variations in KCNH2 predispose patients to delayed ventricular repolarization upon dihydroartemisinin-piperaquine therapy

Antimicrobial Agents and Chemotherapy
Dihydroartemisinin-piperaquine is efficacious for the treatment of uncomplicated malaria and its use is increasing globally. Despite the positive results in fighting malaria, inhibition of the Kv11.1 channel (hERG; encoded by the KCNH2 gene) by ...
Mahamadou D. Camara, Yitian Zhou, Antoine Dara, Mamadou Tékété, Taís Nóbrega de Sousa, Sekou Sissoko, L. Dembélé, Nouhoun Ouologuem, Amadou Hamidou Togo, M. Alhousseini, Bakary Fofana, I. Sagara, Abdoulaye A. Djimde, Pedro J Gil, V. Lauschke   +14 more
semanticscholar   +1 more source

Decreased RYR2 Cluster Size and Abnormal SR Ca2+ Release Contribute to Arrhythmogenesis in TMEM43‐Related ARVC

Advanced Science, EarlyView.
The TMEM43 ‐ P386S mutation causes arrhythmogenic right ventricular cardiomyopathy (ARVC) by mislocalizing itself from nuclear envelope (NE) to cytoplasm, disrupting lamin B2 (a novel TMEM43 interactor) localization, NE integrity and chromatin accessibility, causing hyper ‐ phosphorylation and reduced expression/clustering of ryanodine receptor type 2 (
Jiaxi Shen, Xiaochen Wang, Hangping Fan, Yaxun Sun, Tingyu Gong, Hangyuan Qiu, Jue Wang, Ziwei Pan, Yanna Dang, Hongkun Wang, Danni Zhou, Tianyi Zhu, Hao Wang, Xianzhen Chen, Lizhen Xu, Jun Su, Fan Yang, Yiquan Tang, Xuguang Li, Bing Yang, Lenan Zhuang, Wei Wang, Chenyang Jiang, Ping Liang   +23 more
wiley   +1 more source

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia [PDF]

, 2013
Primary cardiac arrhythmias are often caused by defects, predominantly in the genes responsible for generation of cardiac electrical potential, i.e., cardiac rhythm generation.
Al-Aama, J., Al-Shahrani, S., Bhuiyan, Z.A., Momenah, T.S., Wilde, A.A.M.   +4 more
core   +1 more source

Bioprinted Excitable Tissues with Multistimulation Systems for Promoting Function and Maturation

Advanced NanoBiomed Research, EarlyView.
This review provides an overview of stimulation strategies used to enhance the functional maturation of bioprinted excitable tissues. It addresses key limitations in physiological performance of bioprinted excitable tissues, outlines major stimulation modalities—including electrical, mechanical, optical, magnetic, ultrasound, and hybrid—and examines ...
Uijung Yong, Jinseon Park, Jinah Jang
wiley   +1 more source