Results 1 to 10 of about 9,233 (239)

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   +11 more sources

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing

Journal of Arrhythmia, 2023
Background Long QT syndrome (LQTS) is a lethal cardiac condition. However, the clinical implementation of genetic testing has now made LQTS eminently treatable.
Amir Farjam Fazelifar, Maryam Pourirahim, Tannaz Masoumi, Alireza Biglari, Majid Maleki, Samira Kalayinia   +5 more
doaj   +2 more sources

Knock-in Kcnh2 rabbit model of long QT syndrome type-2, epilepsy, and sudden death [PDF]

Journal of Translational Medicine
Background Long QT Syndrome Type-2 (LQT2) is due to loss-of-function KCNH2 variants. KCNH2 encodes Kv11.1 that forms a delayed-rectifier potassium channel in the brain and heart.
Veronica Singh, Kyle T. Wagner, Laura G. Williams, Justin M. Ryan, Katherine R. Keller, Jonathan D. Mohnkern, Robert S. Gardner, Louis T. Dang, Julie M. Ziobro, Richard J. H. Wojcikiewicz, Nathan R. Tucker, David S. Auerbach   +11 more
doaj   +2 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. [PDF]

PLoS ONE, 2013
KCNH2 (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 KCNH2 ...
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   +3 more sources

KCNH2‐L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance [PDF]

Molecular Genetics & Genomic Medicine
Background Congenital long QT syndrome (LQTS) is an inherited arrhythmia characterized by QT prolongation and increased risk of ventricular arrhythmias. Type 2 LQTS (LQT2) results from mutations in the KCNH2 gene encoding the hERG potassium channel. With
Xi‐Fan Zheng, Qiu Chen, Xiang‐Ting Lu, Hai‐Long Dai, Xue‐Feng Guang   +4 more
doaj   +2 more sources

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   +3 more sources

Potassium voltage-gated channel subfamily H member 2 (KCNH2) is a promising target for incretin secretagogue therapies [PDF]

Signal Transduction and Targeted Therapy
Derived from enteroendocrine cells (EECs), glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic peptide (GIP) are pivotal incretin hormones crucial for blood glucose regulation.
Ying-Chao Yuan, Hao Wang, Ze-Ju Jiang, Chang Liu, Qi Li, Si-Rui Zhou, Jin-Kui Yang   +6 more
doaj   +2 more sources

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

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   +2 more sources

Calibrated Functional Data Decrease Clinical Uncertainty for <i>KCNH2</i>-Related Long-QT Syndrome. [PDF]

Circ Genom Precis Med
Ng CA, O'Neill MJ, Padigepati SR, Ting YL, Facio FM, Vatta M, Poll SR, Reuter JA, Vandenberg JI, Kroncke BM.   +9 more
europepmc   +3 more sources

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

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