Results 11 to 20 of about 2,693,618 (154)

Identification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 Regulation [PDF]

Cell Reports, 2019
Summary: The human ether-a-go-go-related gene KCNH2 encodes the voltage-gated potassium channel underlying IKr, a current critical for the repolarization phase of the cardiac action potential. Mutations in KCNH2 that cause a reduction of the repolarizing
Malou van den Boogaard, Jan Hendrik van Weerd, Amira C. Bawazeer, Ingeborg B. Hooijkaas, Harmen J.G. van de Werken, Federico Tessadori, Wouter de Laat, Phil Barnett, Jeroen Bakkers, Vincent M. Christoffels   +9 more
doaj   +2 more sources

The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG) [PDF]

European Heart Journal, 2008
Atrial fibrillation (AF) is the most frequent arrhythmia in humans. Rare familial forms exist. Recent evidence indicates a genetic susceptibility to common forms of AF. The alpha-subunit of the myocardial I(Kr)-channel, encoded by the KCNH2 gene, is crucial to ventricular and atrial repolarization.
Moritz F, Sinner, Arne, Pfeufer, Mahmut, Akyol, Britt-Maria, Beckmann, Martin, Hinterseer, Annette, Wacker, Siegfried, Perz, Wiebke, Sauter, Thomas, Illig, Michael, Näbauer, Claus, Schmitt, H-Erich, Wichmann, Albert, Schömig, Gerhard, Steinbeck, Thomas, Meitinger, Stefan, Kääb   +15 more
core   +4 more sources

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

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   +2 more sources

The effects of melatonin administration on KCNQ and KCNH2 gene expressions and QTc interval in pinealectomised rats [PDF]

Cellular and Molecular Biology, 2016
Melatonin is a hormone secreted from the pineal gland and has different cardiovascular effects. KCNQ genes expressed in aorta related with vascu- lar tone and KCNH2 gene characterised in left ventricle associated with QT duration. The aim of this study was to investigate the effects of melatonin on the regulation of the blood pressure and the ...
OVALI, MEHMET AKİF, UZUN, METEHAN
openaire   +5 more sources

A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6 [PDF]

Case Reports in Medicine, 2019
We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene).
Annejet Heida, Lisette J. M. E. van der Does, Ahmed A. Y. Ragab, Natasja M. S. de Groot   +3 more
doaj   +4 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

Identification and expression analysis of kcnh2 genes in the zebrafish

Biochemical and Biophysical Research Communications, 2010
Long QT syndrome is a disorder that is characterised by a prolonged QT-interval and can lead to fatal cardiac arrhythmias. Many animal models have been created to study congenital long QT syndrome. Of these, zebrafish models have involved targeting two different KCNH2 gene (long QT syndrome 2) orthologues, termed zerg-2 and zerg-3, with differing ...
Ivone Un San, Leong, Jonathan R, Skinner, Andrew N, Shelling, Donald R, Love   +3 more
openaire   +3 more sources

Aborted Cardiac Arrest in LQT2 Related to Novel KCNH2 (hERG) Variant Identified in One Lithuanian Family [PDF]

Medicina, 2021
Congenital long QT syndrome (LQTS) is a hereditary ion channelopathy associated with ventricular arrhythmia and sudden cardiac death starting from young age due to prolonged cardiac repolarization, which is represented by QT interval changes in ...
Neringa Bileišienė, Jūratė Barysienė, Violeta Mikštienė, Eglė Preikšaitienė, Germanas Marinskis, Monika Keževičiūtė, Algirdas Utkus, Audrius Aidietis   +7 more
doaj   +2 more sources

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

Heart Rhythm, 2008
Sequencing or denaturing high-performance liquid chromatography (dHPLC) analysis of the known genes associated with the long QT syndrome (LQTS) fails to identify mutations in approximately 25% of subjects with inherited LQTS. Large gene deletions and duplications can be missed with these methodologies.The purpose of this study was to determine whether ...
Carey-Anne, Eddy, Judith M, MacCormick, Seo-Kyung, Chung, Jackie R, Crawford, Donald R, Love, Mark I, Rees, Jonathan R, Skinner, Andrew N, Shelling   +7 more
core   +6 more sources

Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation

Frontiers in Genetics
BackgroundLong QT Syndrome (LQTS) is characterized by prolonged QT intervals on electrocardiogram, which may progress into life-threatening polymorphic ventricular tachycardia and sudden cardiac death. Variants in the KCNH2 gene have been associated with
Tianci Wang, Charlene R. Norgan Radler, Mohanakrishnan Sathyamoorthy, Mohanakrishnan Sathyamoorthy, Mohanakrishnan Sathyamoorthy   +4 more
doaj   +3 more sources