Results 21 to 30 of about 3,487 (142)

Phenotype Variability in Patients CarryingKCNJ2Mutations [PDF]

Circulation: Cardiovascular Genetics, 2012
Background—Mutations ofKCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, cause Andersen-Tawil syndrome (ATS), a disease exhibiting ventricular arrhythmia, periodic paralysis, and dysmorphic features. However, someKCNJ2mutation carriers lack the ATS triad and sometimes share the phenotype of catecholaminergic polymorphic ...
Hiromi, Kimura, Jun, Zhou, Mihoko, Kawamura, Hideki, Itoh, Yuka, Mizusawa, Wei-Guang, Ding, Jie, Wu, Seiko, Ohno, Takeru, Makiyama, Akashi, Miyamoto, Nobu, Naiki, Qi, Wang, Yu, Xie, Tsugutoshi, Suzuki, Shigeru, Tateno, Yoshihide, Nakamura, Wei-Jin, Zang, Makoto, Ito, Hiroshi, Matsuura, Minoru, Horie   +19 more
openaire   +6 more sources

Expression of a Mutant kcnj2 Gene Transcript in Zebrafish. [PDF]

ISRN molecular biology, 2013
Long QT 7 syndrome (LQT7, also known as Andersen-Tawil syndrome) is a rare autosomal-dominant disorder that causes cardiac arrhythmias, periodic paralysis, and dysmorphic features. Mutations in the human KCNJ2 gene, which encodes for the subunit of the potassium inwardly-rectifying channel (IK1), have been associated with the disorder.
Leong, Ivone U. S., Skinner, Jonathan R., Shelling, Andrew N., Love, Donald R.   +3 more
openaire   +2 more sources

Proarrhythmia in KCNJ2-linked short QT syndrome: insights from modelling [PDF]

Cardiovascular Research, 2012
One form of the short QT syndrome (SQT3) has been linked to the D172N gain-in-function mutation to Kir2.1, which preferentially increases outward current through channels responsible for inward rectifier K(+) current (I(K1)). This study investigated mechanisms by which the Kir2.1 D172N mutation facilitates and perpetuates ventricular arrhythmias.The ...
Adeniran, Ismail, El Harchi, Aziza, Hancox, Jules C, Zhang, Henggui   +3 more
openaire   +4 more sources

Sour Taste SNP KCNJ2-rs236514 and Differences in Nutrient Intakes and Metabolic Health Markers in the Elderly

Frontiers in Nutrition, 2021
Single nucleotide polymorphisms (SNPs) in taste receptors influence dietary choices that contribute to health and quality of life. Individual differences in sour taste perception and preference have been linked to heritable genetics, yet the impact of ...
Celeste Ferraris, Alexandria Turner, Christopher J. Scarlett, Martin Veysey, Martin Veysey, Mark Lucock, Tamara Bucher, Tamara Bucher, Tamara Bucher, Emma L. Beckett, Emma L. Beckett, Emma L. Beckett   +11 more
doaj   +1 more source

A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy

Frontiers in Neurology, 2023
Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy.
Xiuqin Zhao, Hengbing Zu, Kai Yao
doaj   +1 more source

Upregulation of Potassium Voltage-Gated Channel Subfamily J Member 2 Levels in the Lungs of Patients with Idiopathic Pulmonary Fibrosis

Canadian Respiratory Journal, 2020
Background. Fibroblast dysfunction is the main pathogenic mechanism underpinning idiopathic pulmonary fibrosis (IPF). Potassium voltage-gated channel subfamily J member 2 (KCNJ2) plays critical roles in the proliferation of myofibroblasts and in the ...
Jong-Uk Lee, Hun Soo Chang, Chang An Jung, Ryun Hee Kim, Choon-Sik Park, Jong-Sook Park   +5 more
doaj   +1 more source

Patients with Dilated Cardiomyopathy and Sustained Monomorphic Ventricular Tachycardia Show Up-Regulation of KCNN3 and KCNJ2 Genes and CACNG8-Linked Left Ventricular Dysfunction. [PDF]

PLoS ONE, 2015
Disruptions in cardiac ion channels have shown to influence the impaired cardiac contraction in heart failure. We sought to determine the altered gene expression profile of this category in dilated cardiomyopathy (DCM) patients and relate the altered ...
Ana Ortega, Estefanía Tarazón, Esther Roselló-Lletí, Carolina Gil-Cayuela, Francisca Lago, Jose-Ramón González-Juanatey, Juan Cinca, Esther Jorge, Luis Martínez-Dolz, Manuel Portolés, Miguel Rivera   +10 more
doaj   +1 more source

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan

Frontiers in Neurology, 2023
IntroductionGenetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan.MethodsWe obtained a Japanese nationwide case series of 119 ...
Jun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, Masahiro Ando, Akiko Yoshimura, Tomonori Nakamura, Yu Hiramatsu, Yusuke Sakiyama, Hiroshi Takashima   +8 more
doaj   +1 more source

Overexpression of KCNJ2 in induced pluripotent stem cell-derived cardiomyocytes for the assessment of QT-prolonging drugs

Journal of Pharmacological Sciences, 2017
Human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes hold great potentials to predict pro-arrhythmic risks in preclinical cardiac safety screening, although the hiPSC cardiomyocytes exhibit rather immature functional and structural ...
Min Li, Yasunari Kanda, Takashi Ashihara, Tetsuo Sasano, Yuji Nakai, Masami Kodama, Erina Hayashi, Yuko Sekino, Tetsushi Furukawa, Junko Kurokawa   +9 more
doaj   +1 more source

Soluble Epoxide Hydrolase Inhibitors Regulate Ischemic Arrhythmia by Targeting MicroRNA-1

Frontiers in Physiology, 2021
Background: Soluble epoxide hydrolase inhibitors (sEHis) inhibit the degradation of epoxyeicosatrienoic acids (EETs) in cells, and EETs have antiarrhythmic effects.
Yanying Chen, Qiong Liu, Tian Yang, Li Shen, Danyan Xu   +4 more
doaj   +1 more source