Results 71 to 80 of about 9,256 (240)

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

Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations [PDF]

, 2016
Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processing, leading to nuclear lamina alterations, severe cardiovascular pathology, and premature death.
Benítez Iglesias, Raúl, Caballero, Ricardo, Cabello, Nuria, Calvo, Conrado J., González Gómez, Cristina, Gordon, Leslie B., Guadix, Juan A., Gúzman Martínez, Gabriela, Herraiz Martínez, Adela, Jiménez Borreguero, Luís J., Llach, Anna, López Otín, Carlos, Osorio, Fernando G., Riveras Torres, Jose, Vallmitjana Lees, Alexander   +14 more
core   +2 more sources

Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights

The Journal of Physiology, EarlyView.
Abstract figure legend This white paper integrates mechanistic discoveries across ion channel biology, Ca2+ signalling and multiscale cardiovascular physiology to highlight new opportunities for accelerating research and guiding next‐generation therapies. Printed with permission from ®Anita Impagliazzo Medical Illustration. [Correction added on 2 March
Silvia Marchianò, Miguel Martín‐Aragón Baudel, Charlotte E. R. Smith, Gonzalo Hernandez Hernandez, Donald M. Bers, Patrick M. Boyle, Dobromir Dobrev, Shanna Hamilton, Osama F. Harraz, Na Li, Thomas A. Longden, William E. Louch, Madeline Nieves‐Cintron, Matthew A. Nystoriak, Walter Lee Murfee, Przemysław B. Radwański, Swapnil K. Sonkusare, Manuel F. Navedo, Eleonora Grandi   +18 more
wiley   +1 more source

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention. [PDF]

, 2016
Epidemiologic studies clearly document the public health burden of sudden unexpected death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic cardiorespiratory dysfunction, both interictally and at the time of sudden death due ...
Ackerman, Albert, Anderson, Ansakorpi, Arking, Arking, Auerbach, Aurlien, Bagnall, Bastiaenen, Bateman, Behr, Behr, Behr, Behr, Benarroch, Bezzina, Bezzina, Bird, Brackenbury, Burke, Carvill, Chadwick, Cheah, Chen, Crotti, Davis, Dekker, Delogu, Epi4K Consortium, Ergul, Faingold, Faingold, Fodstad, Genton, Glasscock, Glasscock, Goldman, Hartmann, Hawkins, Heron, Hindocha, Hodges, Holth, International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address e-auea, Iwasa, Jamshidi, Jeffs, Johnson, Jouven, Kaab, Kalume, Kao, Kapplinger, Kash, Keller, Klassen, Klassen, Krahn, Larsen, Lehnart, Liu, Lopez-Santiago, Lossius, Ludwig, Marionneau, Marsman, Massey, Meuth, Monteggia, Mullally, Nashef, Nashef, Nashef, Noam, Novy, O'Brien, Ogiwara, Ogiwara, Papadakis, Partemi, Persson, Plant, Postma, Priori, Priori, Raju, Raju, Richerson, Roden, Rugg-Gunn, Russell, Sakauchi, Scheffer, Semsarian, Skluzacek, Sowers, Splawski, Stieber, Swan, Tecott, Tester, Tester, Tester, Tu, Tu, Tupal, Uteshev, Veeramah, Veeramah, Viskin, Wallace, Weckhuysen, Westenskow, Wilde, Yoshikane, Zaidi   +116 more
core   +1 more source

Age‐ and sex‐specific modulation of human cardiac electrophysiology by doxorubicin

The Journal of Physiology, EarlyView.
Abstract figure legend DOX differentially impacts cardiac electrophysiology based on sex and age. Sex differences were primarily observed among younger hearts, where action potential duration (APD) prolongation was observed in females, but not in males. Created using BioRender. George, S. (2026) https://BioRender.com/wresf1k Abstract Acute doxorubicin (
Sharon A. George, Amber V. Mills, Erin O'Neill, Sofian N. Obaid, Igor R. Efimov, Tatiana Efimova   +5 more
wiley   +1 more source

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation

Frontiers in Genetics, 2022
Background: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, long QT syndrome (LQTS) is a rare ion channel disease, and simultaneous occurrence of both is even rarer.
Hairui Sun, Xiaowei Liu, Xiaoyan Hao, Xiaoxue Zhou, Jingyi Wang, Jiancheng Han, Mengmeng Liang, Hongjia Zhang, Yihua He   +8 more
doaj   +1 more source

Bilateral Cardiac Sympathetic Denervation in Inherited Cardiac Arrhythmias

Journal of Arrhythmia, Volume 42, Issue 2, April 2026.
The figure shows the outcomes and adverse effects experienced by five patients who underwent BCSD for inherited arrhythmias, including CPVT and LQTS. BCSD resulted in significant or partial effects and favorable outcomes. Case 1: In a patient with CPVT, polymorphic ventricular tachycardia was not induced after BCSD.
Hisaaki Aoki, Michiko Minegishi, Katsunori Okajima, Takashi Kumamoto, Daiji Takeuchi   +4 more
wiley   +1 more source

Potassium voltage-gated channel subfamily H member 2 (KCNH2) is a promising target for incretin secretagogue therapies

Signal Transduction and Targeted Therapy
Derived from enteroendocrine cells (EECs), glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic peptide (GIP) are pivotal incretin hormones crucial for blood glucose regulation.
Ying-Chao Yuan, Hao Wang, Ze-Ju Jiang, Chang Liu, Qi Li, Si-Rui Zhou, Jin-Kui Yang   +6 more
doaj   +1 more source

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

Association between antihypertensive drugs and oral cancer: a drug target Mendelian randomization study

Frontiers in Pharmacology, 2023
Background: Recent reports have suggested that antihypertensive drugs may play an oncogenic role in common cancers, but it is still uncertain whether this could influence the risk of oral cancer. Through two-sample Mendelian randomization (MR), we sought
Junfeng Guo, Junfeng Guo, Rongxing Liu, Fangfang Sheng, Qiuxiang Wu, Rufu Xu, Haitao He, Gang Zhang, Junjie Huang, Zhe Zhang, Rong Zhang   +10 more
doaj   +1 more source