Results 51 to 60 of about 313 (129)

Síndrome do QT longo: mutação trigénica, um caso raro

Revista Portuguesa de Cardiologia, 2015
Resumo: A síndrome do QT longo congénito (SQTLC) é uma doença hereditária rara, com uma incidência de uma em cada 2000 pessoas, caracterizada por uma repolarização ventricular prolongada e por taquiarritmias ventriculares malignas.Reportamos o caso de ...
Marina Fernandes, Sílvia Martins Ribeiro, Victor Sanfins, António Lourenço   +3 more
doaj   +1 more source

Therapeutic and Predicted Significance of PKLR in Patients With Cholangiocarcinoma

Cancer Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background Cholangiocarcinoma (CCA) is a highly heterogeneous malignancy with a poor prognosis. However, the molecular mechanisms underlying CCA and its treatment options remain unclear and limited. Aims This study aims to identify novel prognostic biomarkers and potential therapeutic targets for CCA through transcriptomics and whole‐exome ...
Biyan Gong, Xuejun Xu, Tubing Xu, Dong Zhang, Li Yang, Cailing Li, Tingjun Li, Yuandeng Luo   +7 more
wiley   +1 more source

Key role for Kv11.1 (ether‐a‐go‐go related gene) channels in rat bladder contractility

Physiological Reports, 2023
In addition, to their established role in cardiac myocytes and neurons, ion channels encoded by ether‐a‐go‐go‐related genes (ERG1‐3 or kcnh2,3 and 6) (kcnh2) are functionally relevant in phasic smooth muscle.
Vincenzo Barrese, Zena Wehbe, Alice Linden, Sarah McDowell, Elizabeth Forrester, Oleksander Povstyan, Karen D. McCloskey, Iain A. Greenwood   +7 more
doaj   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, Volume 11, Issue 4, Page 1111-1125, August 2026.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

Generation of a human embryonic stem cell line (WAe009-A-43) carrying a Long QT syndrome related mutation in KCNH2 gene

Stem Cell Research, 2020
The hereditary Long QT syndrome (LQTS) is a life-threaten channelopathy of the heart characterized by prolonged QT intervals and predisposition to occur polymorphic ventricular tachyarrhythmias.
Xiaodan Wu, Yitong Zhao, Xiantao Wang
doaj   +1 more source

Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome [PDF]

Journal of Cellular and Molecular Medicine, 2019
AbstractThe K+ voltage‐gated channel subfamily H member 2 (KCNH2) transports the rapid component of the cardiac delayed rectifying K+ current. The aim of this study was to characterize the biophysical properties of a C‐terminus‐truncated KCNH2 channel, G1006fs/49 causing long QT syndrome type II in heterozygous members of an Italian family.
De Zio Roberta, Gerbino Andrea, Forleo Cinzia, Pepe Martino, Milano Serena, Favale Stefano, Procino Giuseppe, Svelto Maria, Carmosino Monica   +8 more
openaire   +4 more sources

Bisoprolol Treatment and Adherence in Pediatric Patients With Genotype‐Positive Long QT Syndrome

Journal of Arrhythmia, Volume 42, Issue 4, August 2026.
LQTS is commonly treated with non‐selective beta‐blockers. In this study on Finnish pediatric patients with genotype positive LQTS1 or LQTS2, most with a Finnish founder mutation, the beta‐1‐selective bisoprolol was the most commonly used beta‐blocker with good adherence, effective heart rate control, and no cardiac events observed during follow‐up ...
Eemil Taipalus, Minna Mecklin, Antti Tikkakoski, Tuija Poutanen, Kaisa Ylänen   +4 more
wiley   +1 more source

Epilepsy: Epidemiology, Molecular Pathogenesis, and Clinical Management

MedComm, Volume 7, Issue 7, July 2026.
Epilepsy is a heterogeneous and chronically evolving brain network disorder. This review integrates epidemiological burden, psychiatric comorbidities, and cyclic seizure patterns with multiscale pathogenic mechanisms, including ion‐channel dysfunction, synaptic transmission defects, neuroinflammation, metabolic and mitochondrial dysfunction, and ...
Jian Liu, Xinyan Wu, Ting Yin, Feining Huang, Manqi Kong, Yu Yang, Zinan Liu, Jiabin Yu, Tianpeng Zhang   +8 more
wiley   +1 more source

Variable electrophysiology before and after block of the two delayed rectifier potassium channels in groups of isolated rabbit ventricular cells

British Journal of Pharmacology, Volume 183, Issue 13, Page 3685-3705, July 2026.
Abstract Background and Purpose Between‐cell differences in ventricular cardiomyocyte action potential duration (APD) and responses to ion channel block may contribute to pro‐arrhythmic dispersion of myocardial repolarisation. This study quantifies between‐cell physiological and pharmacological variability in the rabbit left ventricle (LV) and uses ...
Rebecca J. Gilchrist, Muhamad Hifzhudin Noor Aziz, Francis L. Burton, Radostin D. Simitev, Rachel C. Myles, Godfrey L. Smith   +5 more
wiley   +1 more source

Single Cell RNA Sequencing Reveals THBS1+CD14+ Monocyte Modulates Inflammatory Activation via NRLP3‐Inflammasome in Congenital Heart Block

Journal of Cellular and Molecular Medicine, Volume 30, Issue 14, July 2026.
ABSTRACT Isolated congenital heart block (iCHB) is defined as atrioventricular block without structural cardiac defects, characterized by irreversible fibrosis of the cardiac conduction system. Maternal autoantibodies may elicit systemic exaggerated immune responses involving type I interferon (IFN) signalling cascade, yet peripheral circulating ...
Sha Lin, Jie Tang, Chuan Wang, Yimin Hua, Haiyan Yu, Kaiyu Zhou, Yifei Li   +6 more
wiley   +1 more source