Results 21 to 30 of about 2,693,618 (154)

Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C)

Stem Cell Research
Long QT syndrome type 2 (LQT2), caused by mutations in the KCNH2 gene, is an inherited ion channel disorder associated with sudden death in adolescents. In this study, we generated a patient-specific induced pluripotent stem cell (iPSC) line XXMUFAi001-A
Xiaolei Li, Junbiao Zhang, Xiaofeng Wang, Dawei Pu, Zhenling Zhang, Yifang Niu, Shuai Zhang, Zhenping Fan, Yuxuan Li, Peicheng Li, Hui Liu, Fenghua Lv, Yongchun Zhang, Ya’nan Li   +13 more
doaj   +2 more sources

Digenic heterozygosity in KCNQ1 and KCNH2 genes causes severe long QT phenotype

, 2010
Long QT syndrome (LQTS) is an inherited arrhythmic disorder associated with QT interval prolongation on ECG, syncope, torsade de pointes and sudden cardiac death in young patients. Heritable LQTS is classified in 12 types depending on mutations in a specific gene.
A. Zullo, FRISSO, GIULIA, DETTA, NICOLA, B. Sarubbi, E. Romeo, R. Calabrò, A. L. George, SALVATORE, FRANCESCO   +7 more
openaire   +3 more sources

Association between polymorphisms in NOS3 and KCNH2 and social memory [PDF]

Frontiers in Neuroscience, 2015
Social memory, including the ability to recognize faces and voices, is essential for social relationships. It has a large heritable component, but the knowledge about the contributing genes is sparse.
Susanne eHenningsson, Anna eZettergren, Anna eZettergren, Daniel eHovey, Lina eJonsson, Joakim eSvärd, Diana Sanchez Cortes, Jonas eMelke, Natalie C Ebner, Natalie C Ebner, Petri eLaukka, Hakan eFischer, Hakan eFischer, Lars eWestberg   +13 more
doaj   +2 more sources

Anesthetic Care of a Child Harboring the KCNH2 Gene

Journal of Medical Cases, 2022
Epilepsy is a heterogeneous group of disorders characterized by recurrent and generally unprovoked seizures. Genetic mutations may play an important role in the etiology of epilepsy. Over the past few years, genetic mutations in various genes have been identified in patients with epilepsy.
Ghimire, Anuranjan, Banoub, Rita W., Tobias, Joseph D.   +2 more
openaire   +2 more sources

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance [PDF]

, 2023
BACKGROUND: Variants in KCNH2, encoding the human ether a-go-go (hERG) channel that is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to long QT syndrome type 2 (LQTS2).
Verkerk, AO, Vandenberg, J.I., Verkerk, A.O., Hol, Janna A., Barge-Schaapveld, Daniela Q.C.M., Ng, C.A., Christiaans, Imke, Wilde, AAM, Lommerse, A.A.J., Bezzina, C.R., Lommerse, Aafke A.J., Bezzina, CR, Wilde, A.A.M., Ng, Chai A., Barge-Schaapveld, DQCM, Knijnenburg, J, Koopmann, T.T., van der Smagt, JJ, Lodder, Elisabeth M., Koopmann, Tamara T., Copier, JS, Knijnenburg, J., Lodder, E.M., Lommerse, AAJ, Bootsma, M., Bikker, Hennie, Bertels, RA, Smagt, J.J. van der, Christiaans, I, Vandenberg, JI ; https://orcid.org/, Bootsma, M, Bikker, H., van der Crabben, SN, Bezzina, Connie R., Bootsma, Marianne, van der Smagt, Jasper J., Vandenberg, Jamie I., Koopmann, TT, Verkerk, Arie O., Hol, JA, Bertels, R.A., Wilde, Arthur A.M., Christiaans, Imke; id_orcid, Copier, Jaël S., Barge-Schaapveld, D.Q.C.M., Christiaans, I., Bikker, H, Copier, J.S., Hol, J.A., van der Crabben, Saskia N., Ng, CA ; https://orcid.org/, Knijnenburg, Jeroen, Bertels, Robin A., Crabben, S.N. van der, Lodder, EM   +54 more
core   +3 more sources

Novel mutation in the KCNH2 gene associated with long QT syndrome

Revista Portuguesa de Cardiologia, 2013
Doroteia Silva, Gabriel Miltenberger-Miltenyi, Maria José Correia, António Nunes Diogo   +3 more
doaj   +3 more sources

Tbx20 controls the expression of the KCNH2 gene and of hERG channels [PDF]

Proceedings of the National Academy of Sciences, 2017
Significance Tbx20 is a transcription factor whose critical role in cardiogenesis is well-established. Here we functionally analyzed the electrophysiological effects produced by a mutation (p.R311C) in Tbx20 found in some affected individuals belonging to a family with long QT syndrome (an inherited cardiac ...
Ricardo Caballero, Raquel G. Utrilla, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, David Tinaquero, Silvia Alfayate, Paloma Nieto-Marín, Guadalupe Guerrero-Serna, Qing-hua Liu, Roberto Ramos-Mondragón, Daniela Ponce-Balbuena, Todd Herron, Katherine F. Campbell, David Filgueiras-Rama, Rafael Peinado, José L. López-Sendón, José Jalife, Eva Delpón, Juan Tamargo   +19 more
openaire   +3 more sources

Preclinical efficacy and safety of KCNH2-G628S gene therapy for postoperative atrial fibrillation [PDF]

The Journal of Thoracic and Cardiovascular Surgery, 2017
Postoperative atrial fibrillation (POAF) is the most common complication occurring after cardiac surgery. Multiple studies have shown significantly increased risks of stroke, myocardial infarction, and death associated with POAF. Current prophylaxis strategies are inadequate to eliminate this problem.
Zhao, Liu, Julie A, Hutt, Barur, Rajeshkumar, Yoshihiro, Azuma, Kailai L, Duan, J Kevin, Donahue   +5 more
openaire   +2 more sources

Spectrum of mutations and their phenotypic manifestations in children and adults with long QT syndrome

Российский кардиологический журнал, 2021
Aim. To determine the spectrum of mutations in the genes responsible for the long QT syndrome (LQTS) and study their phenotypic manifestations in patients with LQTS in different age groups.Materials and methods.
N. N. Chakova, S. M. Komissarova, E. A. Zasim, T. V. Dolmatovich, E. S. Rebeko, S. S. Niyazova, E. V. Zaklyazminskaya, L. I. Plashchinskaya, M. V. Dudko   +8 more
doaj   +1 more source

Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 KCNH2 (hERG) Mutations and Identifying New Patients

Biomolecules, 2020
Significant advances in our understanding of the molecular mechanisms that cause congenital long QT syndrome (LQTS) have been made. A wide variety of experimental approaches, including heterologous expression of mutant ion channel proteins and the use of
Makoto Ono, Don E. Burgess, Elizabeth A. Schroder, Claude S. Elayi, Corey L. Anderson, Craig T. January, Bin Sun, Kalyan Immadisetty, Peter M. Kekenes-Huskey, Brian P. Delisle   +9 more
doaj   +1 more source