Results 91 to 100 of about 3,466 (187)

SCN10A-short gene therapy to restore conduction and protect against malignant cardiac arrhythmias

European Heart Journal
Abstract Background and Aims Life-threatening arrhythmias are a well-established consequence of reduced cardiac sodium current (INa). Gene therapy approaches to increase INa have demonstrated potential benefits to prevent arrhythmias. However, the development of such therapies is hampered by the large
Jianan Wang, Arie O Verkerk, Ronald Wilders, Yingnan Zhang, Kelly Zhang, Adityo Prakosa, Mathilde R Rivaud, E Madelief J Marsman, Arie R Boender, Mischa Klerk, Lianne Fokkert, Berend de Jonge, Klaus Neef, Osne F Kirzner, Connie R Bezzina, Carol Ann Remme, Hanno L Tan, Bastiaan J Boukens, Harsha D Devalla, Natalia A Trayanova, Vincent M Christoffels, Phil Barnett, Gerard J J Boink   +22 more
openaire   +2 more sources

Pharmacogenetics of analgesic drugs [PDF]

, 2013
• Individual variability in pain perception and differences in the efficacy of analgesic drugs are complex phenomena and are partly genetically predetermined.
Branford, R, Cregg, R, Gubbay, A, Russo, G, Sato, H   +4 more
core   +1 more source

The Chemistry and Biology of the Tetrodotoxin Natural Product Family

Angewandte Chemie International Edition, Volume 64, Issue 35, August 25, 2025.
Tetrodotoxin is best known as the poison of the pufferfish, which is a delicacy in Japanese cuisine. Its toxicity arises from the selective blockage of NaV channels, which is depicted for the NaV1.7 pore, highlighting the DEKA motif, which permeates sodium ions.
Benedikt Nißl, Marcel Mülbaier, Francesca Grisoni, Dirk Trauner, Marcel Bermúdez, Clemens Dialer, David B. Konrad   +6 more
wiley   +1 more source

Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants

EP Europace, 2019
Abstract Aims The Brugada syndrome (BrS) is an inherited disease associated with an increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because the NaV1.8 protein is expressed more in both the central and peripheral nervous systems than in ...
Monasky, Michelle M, Micaglio, Emanuele, Vicedomini, Gabriele, Locati, Emanuela T, Ciconte, Giuseppe, Giannelli, Luigi, Giordano, Federica, Crisà, Simonetta, Vecchi, Mattia, Borrelli, Valeria, Ghiroldi, Andrea, D'Imperio, Sara, Di Resta, Chiara, Benedetti, Sara, Ferrari, Maurizio, Santinelli, Vincenzo, Anastasia, Luigi, Pappone, Carlo   +17 more
openaire   +3 more sources

Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension–associated genes

Biomolecules & Biomedicine
Coronary artery disease (CAD) represents a complex interplay of genetic, environmental, and lifestyle factors. In this study, we utilized whole-exome sequencing (WES) on 28 patients with obstructive CAD to identify rare variants that may influence ...
Mohammad Fahad Ullah, Rashid Mir, Jamsheed Javid, Imadeldin Elfaki, Faisal H. Altemani, Jameel Barnawi, Naseh A. Algehainy, Mohammed M. Jalal, Malik A. Altayar, Salem Owaid Albalawi, Syed Khalid Mustafa, Aadil Yousif, Eram Husain, Faris J. Tayeb, Faisel M. AbuDuhier   +14 more
doaj   +1 more source

The voltage-gated sodium channel nav1.8 is expressed in human sperm. [PDF]

PLoS ONE, 2013
The role of Na(+) fluxes through voltage-gated sodium channels in the regulation of sperm cell function remains poorly understood. Previously, we reported that several genes encoding voltage-gated Na(+) channels were expressed in human testis and mature ...
Antonio Cejudo-Roman, Francisco M Pinto, Nerea Subirán, Cristina G Ravina, Manuel Fernández-Sánchez, Natalia Pérez-Hernández, Ricardo Pérez, Alberto Pacheco, Jon Irazusta, Luz Candenas   +9 more
doaj   +1 more source

Interleukin-1 receptor type 1 is over-expressed in neurons but not in glial cells within the rat superficial spinal dorsal horn in complete Freund adjuvant induced inflammatory pain [PDF]

, 2017
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Antal, Miklós, Bakk, Erzsébet, Bardóczi, Zsuzsanna, Ducza, László, Dócs, Klaudia, Hegedűs, Krisztina, Hegyi, Zoltán, Holló, Krisztina, Kis, Gréta, Mészár, Zoltán Mihály, Papp, Ildikó   +10 more
core   +1 more source

The Utility of Notched P‐Wave on the Occurrence of Ventricular Fibrillation in Patients With Brugada Syndrome

Journal of Arrhythmia, Volume 41, Issue 4, August 2025.
Notched P‐waves on 12‐lead ECG are significantly associated with ventricular fibrillation in Brugada syndrome, suggesting their potential relevance in identifying patients at increased arrhythmic risk. ABSTRACT Background Risk stratification for ventricular fibrillation (VF) in patients with Brugada syndrome (BrS) remains a significant clinical ...
Keisuke Yonezu, Tetsuji Shinohara, Masaki Takahashi, Taisuke Harada, Kazuki Mitarai, Masayuki Takano, Kei Hirota, Ichitaro Abe, Hidekazu Kondo, Akira Fukui, Hidefumi Akioka, Yasushi Teshima, Naohiko Takahashi   +12 more
wiley   +1 more source

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

Dynamic GATA4 enhancers shape the chromatin landscape central to heart development and disease. [PDF]

, 2014
How stage-specific enhancer dynamics modulate gene expression patterns essential for organ development, homeostasis and disease is not well understood.
Akiyama, Jennifer A, Gu, Fei, He, Aibin, Hu, Yong, Ma, Qing, Pennacchio, Len A, Pu, William T, Visel, Axel, Ye, Lillian Yi   +8 more
core   +2 more sources