Results 41 to 50 of about 3,372 (135)

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Disease-associated astrocytes and microglia markers are upregulated in mice fed high fat diet

Scientific Reports, 2023
High-fat diet (HFD) is associated with Alzheimer’s disease (AD) and type 2 diabetes risk, which share features such as insulin resistance and amylin deposition.
Li Lin, Rashmita Basu, Debolina Chatterjee, Andrew T. Templin, Jonathan N. Flak, Travis S. Johnson   +5 more
doaj   +1 more source

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

Epilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon, Shuyun Wang, Qinghua Liu, Chunling Chen, Alexander M. Greiner, Abigail M. Marx, Maya Shih, Jack M. Parent, Barry London, Lori L. Isom   +9 more
wiley   +1 more source

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

Equine Veterinary Journal, EarlyView.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska, Jowita Grzędzicka‐Agko, Paula Kiełbik, Michał Trela, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

Current topics in catecholaminergic polymorphic ventricular tachycardia

Journal of Arrhythmia, 2016
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is induced by emotions or exercise in patients without organic heart disease and may be polymorphic or bidirectional in nature.
Naokata Sumitomo, MD, PhD
doaj   +1 more source

Changes in motor unit conduction velocity after unilateral lower‐limb suspension and active recovery are correlated with muscle ion channel gene expression

Experimental Physiology, EarlyView.
Abstract The effects of muscle disuse on the propagation of action potentials along motor unit (MU) muscle fibres, a key process for effective muscle activation and force generation, remain poorly understood. The aim of this study was to investigate changes in action potential propagation and to identify biological factors influencing these changes ...
Giacomo Valli, Fabio Sarto, Francesco Negro, Elena Monti, Giuseppe Sirago, Matteo Paganini, Sandra Zampieri, Martino V. Franchi, Andrea Casolo, Julián Candia, Luigi Ferrucci, Marco V. Narici, Giuseppe De Vito   +12 more
wiley   +1 more source

A cohort-based study of host gene expression: tumor suppressor and innate immune/inflammatory pathways associated with the HIV reservoir size.

PLoS Pathogens, 2023
The major barrier to an HIV cure is the HIV reservoir: latently-infected cells that persist despite effective antiretroviral therapy (ART). There have been few cohort-based studies evaluating host genomic or transcriptomic predictors of the HIV reservoir.
Ashok K Dwivedi, Germán G Gornalusse, David A Siegel, Alton Barbehenn, Cassandra Thanh, Rebecca Hoh, Kristen S Hobbs, Tony Pan, Erica A Gibson, Jeffrey Martin, Frederick Hecht, Christopher Pilcher, Jeffrey Milush, Michael P Busch, Mars Stone, Meei-Li Huang, Julieta Reppetti, Phuong M Vo, Claire N Levy, Pavitra Roychoudhury, Keith R Jerome, Florian Hladik, Timothy J Henrich, Steven G Deeks, Sulggi A Lee   +24 more
doaj   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. [PDF]

PLoS ONE, 2015
The use of next-generation sequencing enables a rapid analysis of many genes associated with sudden cardiac death in diseases like Brugada Syndrome. Genetic variation is identified and associated with 30-35% of cases of Brugada Syndrome, with nearly 20 ...
Catarina Allegue, Mònica Coll, Jesus Mates, Oscar Campuzano, Anna Iglesias, Beatriz Sobrino, Maria Brion, Jorge Amigo, Angel Carracedo, Pedro Brugada, Josep Brugada, Ramon Brugada   +11 more
doaj   +1 more source

Can flecainide totally eliminate bidirectional ventricular tachycardia in pediatric patients with Andersen-Tawil syndrome?

Türk Kardiyoloji Derneği Arşivi, 2018
Andersen-Tawil syndrome (ATS) is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm, and developmental abnormalities.
Yakup Ergül, Senem Özgür, Sertaç Hanedan Onan, Volkan Tuzcu   +3 more
doaj   +1 more source