Results 101 to 110 of about 9,256 (240)

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

Single‐Cell Transcriptomics and Integrated Bioinformatic Analysis Reveal Critical Biomarkers and Immune Infiltration Characteristics in Osteoarthritis

Genetics Research , Volume 2026, Issue 1, 2026.
Background Osteoarthritis (OA) is a complex, progressive joint disease characterized by cartilage degradation and inflammation. Traditional bulk tissue analyses have limited our understanding of the cellular diversity within OA tissues. Methods This study employed scRNA‐seq and integrated bioinformatic analyses to investigate the cellular composition ...
Tiantian Gao, Chongshan Yang, Yikang Bi, Pingzhou Zou, Ma Wan, Shenghui Lan, Yuan Song, Yafeng Xu, Xiaoye Jin   +8 more
wiley   +1 more source

KCNH2 encodes a nuclear-targeted polypeptide that mediates hERG1 channel gating and expression [PDF]

, 2022
Abhilasha Jain, Olivia Stack, Saba Ghodrati, Francisco G. Sanchez-Conde, Chiamaka U. Ukachukwu, Shreya Salwi, Eric N. Jiménez‐Vázquez, Francisco G. Sanchez-Conde   +7 more
openalex   +1 more source

SUDDEN UNEXPLAINED JUVENILE DEATH AND THE ROLE OF MEDICOLEGAL INVESTIGATION: UPDATE ON MOLECULAR AUTOPSY [PDF]

, 2012
In the past few years, contributions of molecular biology assays to the investigation of sudden juvenile death have permitted to clarify some of the pathogenetic aspects of sud-den arrhythmic death, opening the way to preventive action on victims ...
ARGO, Antonina, AVERNA, Letizia, PROCACCIANTI, Paolo, SORTINO, Cettina, ZERBO, Stefania   +4 more
core   +1 more source

Identification of Two Rare Variants in Iranian Families With Familial Sudden Cardiac Death

International Journal of Genomics, Volume 2026, Issue 1, 2026.
Cellular action potential is characterized by a particular sequence of depolarizing and repolarizing ion currents regulated by ion channels. Genetic mutations in these channels disrupt the essential movement of ions, such as Na+, Ca++, and K+, across the cell membrane, leading to dangerous arrhythmias and sudden cardiac death (SCD).
Mahsa Tahmasebivand, Sepideh Mehvari, Fatemeh Ghodratpour, Hamidreza Khoram Khorshid, Reza Malekzadeh, Reza Najafipour, Yasser Riazalhosseini, Mark Lathrop, Hossein Najmabadi, Kimia Kahrizi, Neetu Rawal   +10 more
wiley   +1 more source

Implication of intracellular chloride channel in extracellular matrix remodeling in pressure‐overloaded mice and patients with dilated cardiomyopathy

Physiological Reports, Volume 14, Issue 1, January 2026.
Abstract Chloride intracellular channels (CLICs) are important in cardiac cellular physiology. We aimed to determine the pathophysiological roles of CLICs in the heart. For this, we analyzed CLIC expression in cardiomyocytes in a mouse transverse aortic constriction (TAC) model to induce cardiac hypertrophy and failure, as well as in ventricular ...
Gaku Oguri, Seitaro Nomura, Takafumi Nakajima, Hironobu Kikuchi, Syotaro Obi, Issei Komuro, Norihiko Takeda, Shigeru Toyoda, Toshiaki Nakajima   +8 more
wiley   +1 more source

Upregulation of Functional Kv11.1a Isoform Expression by Modified U1 Small Nuclear RNA

, 2018
The KCNH2 or human ether-a go-go-related gene (hERG) encodes the Kv11.1 potassium channel that conducts the rapidly activating delayed rectifier potassium current in the heart.
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core  

K⁺ チャネルを調節するKCNE1の頻度の多い遺伝子多型、G38Sの潜在的な病原性について [PDF]

, 2013
富山大学・富医薬博甲第116号・山口由明・2013/09/27・★論文非公開 ...
山口 由明
core   +1 more source

Torsades de Pointes electrical storm in children with KCNH2 mutations

BMC Medical Genomics
Congenital long QT syndrome (LQTS) is a genetic heart disorder, which may lead to life-threatening arrhythmias, especially in children. Here, we reported two children who were initially misdiagnosed with epilepsy and experienced Torsades de Pointes (TdP) cardiac electrical storm (ES).
Li Zhang, Meng Xu, Zhen Yan, Yan Han, Xunwei Jiang, Tingting Xiao, Cuilan Hou, Yun Li   +7 more
openaire   +3 more sources

Regulation of Kv11.1 Potassium Channel C-Terminal Isoform Expression by the RNA-Binding Proteins HuR and HuD

, 2018
The potassium voltage-gated channel subfamily H member 2 (KCNH2) gene encodes the Kv11.1 potassium channel, which conducts the rapidly activating delayed rectifier current in the heart.
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core