Results 11 to 20 of about 6,642 (199)

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations [PDF]

BMC Medical Genetics, 2008
Background KCNQ1 and KCNH2 are the two most common potassium channel genes causing long QT syndrome (LQTS), an inherited cardiac arrhythmia featured by QT prolongation and increased risks of developing torsade de pointes and sudden death.
Oberti Carlos, Redfearn Sharon, Bryant Randall M, Liu Mugen, Zhang Li, Chen Shenghan, Zhang Xianqin, Vincent G Michael, Wang Qing K   +8 more
doaj   +6 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   +5 more sources

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

Human Molecular Genetics, 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   +12 more sources

Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome

Stem Cell Research, 2021
Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death.
Gema Mondéjar-Parreño, James W.S. Jahng, Nadjet Belbachir, Blake C. Wu, Xiaolan Zhang, Marco V. Perez, Nitish Badhwar, Joseph C. Wu   +7 more
doaj   +2 more sources

Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome [PDF]

Journal of Cellular and Molecular Medicine, 2019
The K+ voltage-gated channel subfamily H member 2 (KCNH2) transports the rapid component of the cardiac delayed rectifying K+ current. The aim of this study was to characterize the biophysical properties of a C-terminus-truncated KCNH2 channel, G1006fs ...
Procino, Giuseppe, Monica Carmosino, De Zio, Roberta, Gerbino, Andrea, Giuseppe Procino, Maria Svelto, Pepe, Martino, Svelto, Maria, Roberta De Zio, Carmosino, Monica, Forleo, Cinzia, Milano, Serena, Serena Milano, Favale, Stefano, Stefano Favale, Andrea Gerbino, Martino Pepe, Cinzia Forleo, De Zio R., Gerbino A., De Zio Roberta, Milano Serena, Forleo C., Favale Stefano, Pepe Martino, Procino Giuseppe, Svelto Maria, Carmosino Monica, Svelto M., Carmosino M., Gerbino Andrea, Milano S., Favale S., Pepe M., Procino G., Forleo Cinzia   +35 more
core   +8 more sources

The KCNH2 genetic polymorphism (1956, C>T) is a novel biomarker that is associated with CCB and α,β-ADR blocker response in EH patients in China.

PLoS ONE, 2013
BackgroundKCNH2 (hERG) potassium channels have an integral role in regulating the excitability of smooth muscle cells. Some pathways driven by angiotensin II, nitric oxide and adrenergic receptors blocker are involved in modulating the properties of ...
Fazhong He, Jianquan Luo, Zhiying Luo, Lan Fan, Yijing He, Dingliang Zhu, Jinping Gao, Sheng Deng, Yan Wang, Yuesheng Qian, Honghao Zhou, Xiaoping Chen, Wei Zhang   +12 more
doaj   +2 more sources

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.
Ro, S., Horowitz, B., Farrelly, A. M., Callaghan, B. P., Khoyi, M. A., Keef, K. D., Sanders, K. M., Fleming, N.   +7 more
core   +6 more sources

Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome. [PDF]

PLoS ONE
We identified two different inherited mutations in KCNH2 gene, or human ether-a-go-go related gene (hERG), which are linked to Long QT Syndrome. The first mutation was in a 1-day-old infant, whereas the second was in a 14-year-old girl.
Anthony Owusu-Mensah, Jacqueline Treat, Joyce Bernardi, Ryan Pfeiffer, Robert Goodrow, Bright Tsevi, Victoria Lam, Michel Audette, Jonathan M Cordeiro, Makarand Deo   +9 more
doaj   +2 more sources

Síndrome de QT largo: Nueva mutación en el gen KCNH2

Iatreia, 2010
Se presenta el caso de un paciente masculino de 10 años, con cuadro clínico y electrocardiográfico concordante con síndrome de QT largo, en quien se realizó secuenciación de los genes KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), KCNE2 (LQT6 ...
Luis Arturo Lizcano Gil, Karina Mancera
doaj   +1 more source

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

Eur Heart J
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.
Nimani S, Bains S, Alerni N, Ördög B, Horváth A, Matas L, Louradour J, Giammarino L, Tester DJ, Beslac O, Lopez R, Meier S, Egle M, Christoforou N, Barbieri M, Vashanthakumar V, Perez-Feliz S, Parodi C, Garcia Casalta LG, Kim CSJ, Zhou W, Ye D, Jurgensen J, Barry MA, Bego M, Keyes L, Owens J, Pinkstaff J, Christoph J, Zehender M, Brunner M, Heijman J, Casoni D, Praz F, Haeberlin A, Brooks G, Ackerman MJ, Odening KE.   +37 more
europepmc   +3 more sources