نتایج جستجو برای: kcnq1

تعداد نتایج: 1121  

2010
Toshihiko Ohshige Yasushi Tanaka Shin-ichi Araki Tetsuya Babazono Masao Toyoda Tomoya Umezono Hirotaka Watada Daisuke Suzuki Yasuhiko Iwamoto Ryuzo Kawamori Yusuke Nakamura Shiro Maeda

OBJECTIVE Genetic factors have been considered to contribute to the development and progression of diabetic nephropathy. The KCNQ1 gene (potassium voltage-gated channel, KQT-like subfamily, member 1) was originally identified as a strong susceptibility gene for type 2 diabetes in two Japanese genome-wide association studies. In this study, we examined the association of single nucleotide polymo...

Journal: :Circulation research 2007
Guiscard Seebohm Nathalie Strutz-Seebohm Ria Birkin Ghislaine Dell Cecilia Bucci Maria R Spinosa Ravshan Baltaev Andreas F Mack Ganna Korniychuk Amit Choudhury David Marks Richard E Pagano Bernard Attali Arne Pfeufer Robert S Kass Michael C Sanguinetti Jeremy M Tavare Florian Lang

Stress-dependent regulation of cardiac action potential duration is mediated by the sympathetic nervous system and the hypothalamic-pituitary-adrenal axis. It is accompanied by an increased magnitude of the slow outward potassium ion current, I(Ks). KCNQ1 and KCNE1 subunits coassemble to form the I(Ks) channel. Mutations in either subunit cause long QT syndrome, an inherited cardiac arrhythmia ...

Journal: :American journal of physiology. Heart and circulatory physiology 2004
Hanne Borger Rasmussen Morten Møller Hans-Günther Knaus Bo Skaaning Jensen Søren-Peter Olesen Nanna Koschmieder Jørgensen

In the heart, several K(+) channels are responsible for the repolarization of the cardiac action potential, including transient outward and delayed rectifier K(+) currents. In the present study, the cellular and subcellular localization of the two delayed rectifier K(+) channels, KCNQ1 and ether-a-go-go-related gene-1 (ERG1), was investigated in the adult rat heart. Confocal immunofluorescence ...

Journal: :The Journal of General Physiology 2004
Gilad Gibor Daniel Yakubovich Asher Peretz Bernard Attali

The pore properties and the reciprocal interactions between permeant ions and the gating of KCNQ channels are poorly understood. Here we used external barium to investigate the permeation characteristics of homomeric KCNQ1 channels. We assessed the Ba(2+) binding kinetics and the concentration and voltage dependence of Ba(2+) steady-state block. Our results indicate that extracellular Ba(2+) ex...

2016
Syeda Sadia Fatima Bushra Chaudhry Taseer Ahmed Khan Saad Farooq

BACKGROUND AND OBJECTIVE Genetic studies on gestational diabetes (GDM) are relatively scarce; moreover, limited data is available for KCNQ1 polymorphism in Pakistani pregnant women. We aimed to determine the frequency of KCNQ1 rs2237895 in GDM and normal pregnant controls and its association with GDM-related phenotypes. METHODS A total of 637 pregnant females (429 controls and 208 cases) in t...

Journal: :Human molecular genetics 2015
Ana M Gómez-Úriz Fermín I Milagro María L Mansego Paúl Cordero Itziar Abete Ana De Arce Estíbaliz Goyenechea Vanessa Blázquez Maite Martínez-Zabaleta José Alfredo Martínez Adolfo López De Munain Javier Campión

Obesity and stroke are multifactorial diseases in which genetic, epigenetic and lifestyle factors are involved. The research aims were, first, the description of genes with differential epigenetic regulation obtained by an 'omics' approach in patients with ischemic stroke and, second, to determine the importance of some regions of these selected genes in biological processes depending on the bo...

2014
Fabien C. Coyan Fayal Abderemane-Ali Mohamed Yassine Amarouch Julien Piron Jérôme Mordel Céline S. Nicolas Marja Steenman Jean Mérot Céline Marionneau Annick Thomas Robert Brasseur Isabelle Baró Gildas Loussouarn

INTRODUCTION Phosphatidylinositol-4,5-bisphosphate (PIP2) is a cofactor necessary for the activity of KCNQ1 channels. Some Long QT mutations of KCNQ1, including R243H, R539W and R555C have been shown to decrease KCNQ1 interaction with PIP2. A previous study suggested that R539W is paradoxically less sensitive to intracellular magnesium inhibition than the WT channel, despite a decreased interac...

Journal: :Diabetes 2009
Jonathan T. Tan Siti Nurbaya Daphne Gardner Sandra Ye E. Shyong Tai Daniel P.K. Ng

OBJECTIVE The potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1) has been found through a genome-wide association study to be a strong candidate for conferring susceptibility to type 2 diabetes in East Asian and European populations. Our objective was to describe the association between polymorphisms at the KCNQ1 locus with insulin resistance, beta-cell function, and other ty...

2013
Myoung Kyun Son Chang-Seok Ki Seung-Jung Park June Huh June Soo Kim Young Keun On

Mutation or common intronic variants in cardiac ion channel genes have been suggested to be associated with sudden cardiac death caused by idiopathic ventricular tachyarrhythmia. This study aimed to find mutations in cardiac ion channel genes of Korean sudden cardiac arrest patients with structurally normal heart and to verify association between common genetic variation in cardiac ion channel ...

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