Results 31 to 40 of about 3,372 (135)

Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities [PDF]

Arquivos de Neuro-Psiquiatria, 2006
Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea ...
Célia H. Tengan, Antonio C. Antunes, José R. Bauab, Gilmar F. Prado, Gilberto M. Manzano, Alberto A. Gabbai   +5 more
doaj   +1 more source

Experimental study on inhibition of rat ventricular Ik1 by RNA interference targeting the KCNJ2 gene

BioScience Trends, 2012
The dominant-negative inhibition of KCNJ2-encoded inward rectifier potassium channels (Kir2) is currently considered the best approach to biological pacemakers. We hypothesized that inhibition of the inward rectifier potassium current (IK1) in ventricular myocytes by RNA interference (RNAi) would convert ventricular myocytes into pacemaker cells.
B, Hu, X L, Zhu, Q X, Fan, H X, Li, C W, Zou   +4 more
openaire   +2 more sources

Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis

Frontiers in Neurology, 2023
Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by variants in CACNA1S or SCN4A genes, or secondary to ...
Zhi Zhang, Banghui Xiao
doaj   +1 more source

Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome [version 1; referees: 2 approved]

F1000Research, 2017
In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).
Armando Totomoch-Serra, Manlio F. Marquez, David E. Cervantes-Barragán   +2 more
doaj   +1 more source

Investigation of the Effects of the Short QT Syndrome D172N Kir2.1 Mutation on Ventricular Action Potential Profile Using Dynamic Clamp

Frontiers in Pharmacology, 2022
The congenital short QT syndrome (SQTS) is a cardiac condition that leads to abbreviated ventricular repolarization and an increased susceptibility to arrhythmia and sudden death.
Chunyun Du, Randall L. Rasmusson, Randall L. Rasmusson, Glenna C. Bett, Glenna C. Bett, Glenna C. Bett, Brandon Franks, Henggui Zhang, Jules C. Hancox, Jules C. Hancox   +9 more
doaj   +1 more source

Negative regulation of angiogenesis and the MAPK pathway may be a shared biological pathway between IS and epilepsy.

PLoS ONE, 2023
Ischemia stroke and epilepsy are two neurological diseases that have significant patient and societal burden, with similar symptoms of neurological deficits. However, the underlying mechanism of their co-morbidity are still unclear.
Longhui Fu, Beibei Yu, Boqiang Lv, Yunze Tian, Yongfeng Zhang, Huangtao Chen, Shijie Yang, Yutian Hu, Pengyu Ren, Jianzhong Li, Shouping Gong   +10 more
doaj   +1 more source

A Lung Transcriptomic Analysis for Exploring Host Response in COVID-19

Journal of Pure and Applied Microbiology, 2020
Severe Acute Respiratory Syndrome Corona Virus-2 (SARS-CoV-2) rose without precedent for Wuhan, China, in December 2019. It is a kind of exceptionally pathogenic human coronavirus (HCoV) which causes zoonotic sicknesses and represents a significant ...
Aditya Saxena, Uma Chaudhary, Alok Bharadwaj, Nitin Wahi, Jitender Reddy Kalli, Shravya Gupta, Sparsh Kumar, Somya Gupta, Utkarsh Raj   +8 more
doaj   +1 more source

Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing

BMC Neurology, 2019
Background Primary periodic paralysis is characterized by recurrent quadriplegia typically associated with abnormal serum potassium levels. The molecular diagnosis of primary PP previously based on Sanger sequencing of hot spots or exon-by-exon screening
Sushan Luo, Minjie Xu, Jian Sun, Kai Qiao, Jie Song, Shuang Cai, Wenhua Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, Xiaohua Ni, Tonghai Dou, Chongbo Zhao   +12 more
doaj   +1 more source

KCNJ2 is Required for NLRP3 Inflammasome Activation That Drives Allergic Airway Inflammation and Remodeling

Advanced Science, EarlyView.
This study aims to evaluate the impact of the potassium channel KCNJ2 on asthma development. KCNJ2 promotes NLRP3 inflammasome activation through both Ca2+ influx and K+ efflux in airway epithelial cells, which drives allergic airway inflammation and remodeling, suggesting a promising therapeutic target for asthma.
Yachao Cui, Shumei Wu, Yang Peng, Yiqi Liu, Li Che, Shiying Chen, Feng Zhang, Dajiang Qin, Shiyue Li, Pixin Ran, Wenguang Yin   +10 more
wiley   +1 more source

The research of ion channel‐related gene polymorphisms with atrial fibrillation in the Chinese Han population

Molecular Genetics & Genomic Medicine, 2019
Background Atrial fibrillation (AF) is one of the common arrhythmia in clinics. Its incidence is high among the elderly. This study aimed to identify a possible connection between ion channel‐related gene polymorphisms and the risk of AF. Methods A total
Xiumin Liu, Yujie Li, Huan Zhang, Yuqiang Ji, Zhao Zhao, Changyu Wang   +5 more
doaj   +1 more source