Results 111 to 120 of about 9,233 (239)

Novel calmodulin mutations associated with congenital arrhythmia susceptibility. [PDF]

, 2014
BACKGROUND: Genetic predisposition to life-threatening cardiac arrhythmias such as congenital long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) represent treatable causes of sudden cardiac death in young adults and ...
Aiba, T., Beckmann, B.M., Behr, E.R., Bhuiyan, Z.A., Chazin, W.J., Crotti, L., Denjoy, I., Endo, N., George, A.L., Guicheney, P., Homfray, T., Ishikawa, T., Johnson, C.N., Kimura, A., Klug, D., Kääb, S., Lichtner, P., Makita, N., Mastantuono, E., Meitinger, T., Miyamoto, Y., Motomura, H., Nakagawa, H., Ozaki, K., Roh, M.S., Satake, W., Schwartz, P.J., Shigemizu, D., Shimizu, W., Suda, K., Tanaka, T., Theisen, D., Toda, T., Tsuchiya, T., Tsuji, Y., Tsunoda, T., Watanabe, H., Yagihara, N., Yamamoto, H.   +38 more
core   +1 more source

KCNH2 encodes a nuclear-targeted polypeptide that mediates hERG1 channel gating and expression [PDF]

, 2022
Abhilasha Jain, Olivia Stack, Saba Ghodrati, Francisco G. Sanchez-Conde, Chiamaka U. Ukachukwu, Shreya Salwi, Eric N. Jiménez‐Vázquez, Francisco G. Sanchez-Conde   +7 more
openalex   +1 more source

Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation: Meta-Analysis of Three Genome-Wide Association Studies [PDF]

, 2012
To identify loci affecting the electrocardiographic QT interval, a measure of cardiac repolarisation associated with risk of ventricular arrhythmias and sudden cardiac death, we conducted a meta-analysis of three genome-wide association studies (GWAS ...
Arking, Dan E., Asselbergs, Folkert W., Brown, Morris, Carter, Nicholas D., Caulfield, Mark, Connell, John, Dalageorgou, Chrysoula, de Bakker, Paul I Wen, Deloukas, Panos, Dominiczak, Anna, Eijgelsheim, Mark, Farrall, Martin, Fu, Jingyuan, Gwilliam, Rhian, Jamshidi, Yalda, Jeffery, Steve, Lathrop, Mark, Munroe, Patricia B., Newhouse, Stephen J., Newton-Cheh, Christopher Holmes, Nolte, Ilja M., Paterson, Andrew D., Pfeufer, Arne, Rice, Kenneth Robert, Samani, Nilesh J., Sanna, Serena, Savelieva, Irina, Snieder, Harold, Soranzo, Nicole, Spector, Tim D., Tobin, Martin, Waggott, Daryl, Wain, Louise V., Wallace, Chris, Zeggini, Eleftheria, Zheng, Dongling   +35 more
core   +1 more source

Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study [PDF]

, 2007
BACKGROUND: Heritable electrocardiographic (ECG) and heart rate variability (HRV) measures, reflecting pacemaking, conduction, repolarization and autonomic function in the heart have been associated with risks for cardiac arrhythmias.
Guo, Chao-Yu, Larson, Martin G., Levy, Daniel, Newton-Cheh, Christopher, O'Donnell, Christopher J., Wang, Thomas J.   +5 more
core   +4 more sources

Initial investigations into single nucleotide polymorphisms and their association with QTc and left ventricular function in peripartum cardiomyopathy

European Journal of Heart Failure, Volume 27, Issue 12, Page 3297-3303, December 2025.
Gasnat Shaboodien, Charle Viljoen, Polycarp Ndibangwi, Julian Hoevelmann, Lameez Pearce, Susanna Haidari, Margherita Torchio, Federica Dagradi, Carla Spazzolini, Sarah Kraus, Ntobeko A.B. Ntusi, Peter J. Schwartz, Karen Sliwa   +12 more
wiley   +1 more source

Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo Investigación de variantes génicas de canales iónicos en pacientes con síndrome del QT largo Investigation of ion channel gene variants in patients with long QT syndrome

Arquivos Brasileiros de Cardiologia, 2011
FUNDAMENTO: A síndrome do QT longo (SQTL) é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa ...
Ernesto Curty, Fernando Eugênio dos Santos Cruz, Fabiane Santos Lima, Jorge Luiz Albuquerque Coutinho, Rosane Silva, Turán Peter Ürményi, Antônio Carlos Campos Carvalho, Edson Rondinelli   +7 more
doaj  

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo

Arquivos Brasileiros de Cardiologia, 2011
FUNDAMENTO: A síndrome do QT longo (SQTL) é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa ...
Ernesto Curty, Fernando Eugênio dos Santos Cruz, Fabiane Santos Lima, Jorge Luiz Albuquerque Coutinho, Rosane Silva, Turán Peter Ürményi, Antônio Carlos Campos Carvalho, Edson Rondinelli   +7 more
doaj  

Sinus Bradycardia and Long QT Syndrome: Double Heterozygosity for Variants in KCNH2 and HCN4

Cardiogenetics
Introduction: Clinical variability within families harbouring disease-causing genetic variants hampers clinical care and risk stratification. We studied a multigenerational family presenting with sinus bradycardia and long QT syndrome type 2 (LQTS2). The
Jaël S. Copier, Fenna Tuijnenburg, Karolina Andrzejczyk, Alex V. Postma, Saskia N. van der Crabben, Oussama Najih, Caroline Pham, Leander Beekman, Arie O. Verkerk, Ahmad S. Amin, Elisabeth M. Lodder   +10 more
doaj   +1 more source

Selective acquired long QT syndrome (saLQTS) upon risperidone treatment

BMC Psychiatry, 2012
Background Numerous structurally unrelated drugs, including antipsychotics, can prolong QT interval and trigger the acquired long QT syndrome (aLQTS). All of them are thought to act at the level of KCNH2, a subunit of the potassium channel.
Lazarczyk Maciej, Bhuiyan Zahir A, Perrin Nicolas, Giannakopoulos Panteleimon   +3 more
doaj   +1 more source