Results 91 to 100 of about 279,908 (354)

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Long QT Syndrome in Adults

Journal of the American College of Cardiology, 2007
The aims of this study were: 1) to evaluate risk factors influencing the clinical course of mutation-confirmed adult patients with long QT syndrome (LQTS), 2) to study life-threatening cardiac events as a specific end point in adults, and 3) to examine the protective effect of beta-blocker therapy on cardiac events in adult LQTS patients with known ...
Sauer, Andrew J., Moss, Arthur J., McNitt, Scott, Peterson, Derick R., Zareba, Wojciech, Robinson, Jennifer L., Qi, Ming, Goldenberg, Ilan, Hobbs, Jenny B., Ackerman, Michael J., Benhorin, Jesaia, Hall, W. Jackson, Kaufman, Elizabeth S., Locati, Emanuela H., Napolitano, Carlo, Priori, Silvia G., Schwartz, Peter J., Towbin, Jeffrey A., Vincent, G. Michael, Zhang, Li   +19 more
openaire   +2 more sources

iMeta Conference 2025: Creating high‐impact international journals

iMeta, EarlyView.
The iMeta Conference 2025, part of the iMeta Conference series, themed “Creating High‐Impact International Journals,” held at the Huangjiahu Campus of Hubei University of Chinese Medicine from August 23rd to 25th, 2025, and focused on frontier topics such as microbiology, medicine, traditional Chinese medicine, botany, and research career development ...
Zhihao Zhu, Lin Zhang, Xiaofang Yao, Meiyin Zeng, Yao Wang, Hao Luo, Yuanping Zhou, Tianyuan Zhang, Jiani Xun, Defeng Bai, Haifei Yang, Shanshan Xu, Yang Zhou, Yunyun Gao, Jinbo Xu, Wei Han, ZiAng Shen, Bangzhou Zhang, Tengfei Ma, Xiu‐Lin Wan, Chuang Ma, Fengjiao Hui, Hao Bai, Lijing Bai, Qing Bai, Qiangguo Bao, Guodong Cao, Peng Cao, Qiqi Cao, Hu Chen, Jiawen Chen, Jiaxu Chen, Lihua Chen, Tingting Chen, Yi Chen, Haipeng Cui, Shaoxing Dai, Xi‐Jian Dai, Xiaofeng Dai, Yanqi Dang, Lei Deng, Yun Deng, Xia Ding, Binhua Dong, Ling Dong, Shujie Dou, Hongzhi Du, Zhencheng Fang, Xiaoxiao Feng, Min Fu, Yuan Gao, Wenping Gong, Xiang Guo, Wenjie Han, Zikai Hao, Zheng‐Guo He, Haibo Hu, Haiming Hu, Xuefei Hu, Liang Huang, Xianya Huang, Xueting Huang, Haochen Hui, Dingjiacheng Jia, Aimin Jiang, Di Jiang, Kun Jiang, Dewei Jiang, Ying Jin, Kunyang Lai, Chun Li, Feng Li, Fuyong Li, Jing Li, Juan Li, Junling Li, Kui Li, Ling Li, Moli Li, Peiwu Li, Peng Li, Runze Li, Shengnan Li, Shujin Li, Wanting Li, Wenting Li, Xiaojing Li, Xinrui Li, Xuemeng Li, Qiqi Liang, Xiaoping Liao, Boyang Liu, Canzhao Liu, Chang Liu, Duanrui Liu, Furong Liu, Jianjun Liu, Jinyao Liu, Siqi Liu, Tianyang Liu, Wenjuan Liu, Yan Liu, Yang Liu, Yi Liu, Yuan Liu, Yunhuan Liu, Zhipeng Liu, Zhiyong Liu, Xin Lu, Xiao Luo, Guanju Ma, Jialin Meng, Yuanfa Meng, Runyu Miao, Linxuan Miao, Yawen Ni, Dongze Niu, Tingting Niu, Hongzhao Pan, Guoqiang Qin, Tiantian Qiu, Yueping Qiu, Hui Qu, Linghang Qu, Na Ren, Qiang Sun, Run Shang, Peize She, Xihui Shen, Bohan Shi, You Shu, Jiawei Song, Weibin Song, Qi Su, Qingzhu Sun, YuPing Sun, Zijin Sun, Bufu Tang, Deqin Tang, Hua Tang, Yongfu Tao, Teng Teng, Yanye Tu, Cheng Wang, Hui Wang, Yunhao Wang, Chunli Wang, Dingjie Wang, Gang Wang, Jin Wang, Kaiyi Wang, Mingbang Wang, Shan Wang, Shixiang Wang, Xiaojie Wang, Xing‐Chang Wang, Yunzhe Wang, Jiale Wang, Zheng Wang, Weijie Wang, Yongjun Wei, Wei Xu, Fan Wu, Junling Wu, Shijuan Wu, Jian Xiao, Weihua Xiao, Yang Xiao, Xi Xiong, Xue Xiong, Feng Xu, Junyu Xu, Wen Xu, Jun Xu, Yao Xu, Jun Yan, Lutian Yao, Jia Yang, Lulu Yang, Xingzhen Yang, Naiyi Yin, Hua You, Min You, Ting Yu, Yongyao Yu, Renqiang Yu, Shuofeng Yuan, Chaoxiong Yue, Xiaoya Zeng, Andong Zha, Leilei Zhai, Chi Zhang, Dong Zhang, Hengguo Zhang, Heng Zhang, Hongyu Zhang, Jiahao Zhang, Jinyang Zhang, Lishan Zhang, Qi Zhang, Xiang Zhang, Xiangyu Zhang, Xuelei Zhang, Yancong Zhang, Yuan Zhang, Zhenyu Zhang, Jiwei Zhao, Jingxuan Zhao, Kai Zhao, Mingjuan Zhao, Yi Zhao, Yunxiang Zhao, Jixin Zhong, Ling Zhong, Xiangjian Zhong, Dan Zhou, Wei Zhou, Wen Zhou, Yiqian Zhou, Zhemin Zhou, Shiquan Zhu, Shuang‐Jiang Liu, Suyin Feng, Shuangxia Jin, Chuanxing Xiao, Ziheng Wang, Peng Luo, Tong Chen, Gang Chen, Yong‐Xin Liu   +229 more
wiley   +1 more source

Hepatopulmonary syndrome in children and adolescents with portal hypertension in Brazil: A multicenter study

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives To describe the clinical and laboratory characteristics and outcomes of pediatric hepatopulmonary syndrome (HPS) secondary to portal hypertension (PH) in Brazil. Methods Fifty‐four pediatric patients diagnosed with PH and HPS according to the European Respiratory Society criteria were included in this multicenter retrospective study.
Leticia Drumond Alberto, Eleonora Druve Tavares Fagundes, Adriana Teixeira Rodrigues, Thaís Costa Nascentes Queiroz, Gustavo Valverde de Castro, Carlos Oscar Kieling, Sandra Maria Gonçalves Vieira, Natália Lamounier dos Martires Guerra, Natascha Silva Sandy, Gilda Porta, Irene Kazue Miura, Maria Ângela Bellomo Brandão, Gabriel Hessel, Adriana Maria Alves de Tommaso, Alexandre Rodrigues Ferreira   +14 more
wiley   +1 more source

Andersen-Tawil Syndrome [PDF]

, 2006
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Fish, Frank A, Kannankeril, Prince J, Smith, Andrew H   +2 more
core   +2 more sources

Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports

JPGN Reports, EarlyView.
Abstract Alagille syndrome (ALGS) is a rare, autosomal dominant disorder which presents with a broad range of clinical manifestations, including cholestatic pruritus. A unique manifestation of ALGS is the presence of xanthomas in 24%–42% of patients, which can lead to liver transplantation.
Geetanjali Bora, Ruben E. Quiros‐Tejeira, Bernadette Vitola   +2 more
wiley   +1 more source

Characterization of a variant in the KCNH2 gene in an Ecuadorian patient with long QT syndrome: A case report

Medwave
Long QT syndrome is a rare cardiac channelopathy characterized by prolonged QT intervals and altered T wave morphology. The etiology of long QT syndrome is multifactorial, including environmental and genetic factors.
Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Elius Paz-Cruz, Viviana A. Ruiz-Pozo, Daniel Simancas-Racines, Ana Karina Zambrano   +8 more
doaj   +1 more source

T-wave alternans in long QT syndrome

Annals of Pediatric Cardiology, 2018
Long QT syndrome (LQTS) is a congenital disorder characterized by prolongation of QT interval in the electrocardiogram (ECG) and a propensity to develop ventricular arrhythmias, which may lead to syncope, cardiac arrest or sudden death. T-wave alternans (
Siddharth Narayan Gadage
doaj   +1 more source

Molecular and clinical determinants of drug-induced long QT syndrome: an iatrogenic channelopathy. [PDF]

, 2004
More than 70 drugs present on the Swiss market can cause drug-induced long QT syndrome (LQTS), which is associated with torsades de pointes (TdP) arrhythmias, potentially leading to sudden cardiac death. Basic and clinical investigations performed during
Abriel, H., Biollaz, J., Buclin, T., Gavillet, B., Kappenberger, L., Keller, D.I., Schläpfer, J., Stoller, R.   +7 more
core