Results 61 to 70 of about 4,086 (181)

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

Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome [PDF]

Channels, 2011
Andersen-Tawil syndrome is characterized by periodic paralysis, ventricular ectopy, and dysmorphic features. Approximately 60% of patients exhibit loss-of-function mutations in KCNJ2, which encodes the inwardly rectifying K(+) channel pore forming subunit Kir2.1.
Marrus, Scott B, Cucilich, Phillip S, Wang, Wei, Nerbonne, Jeanne M   +3 more
openaire   +3 more sources

Investigation of the Effects of the Short QT Syndrome D172N Kir2.1 Mutation on Ventricular Action Potential Profile Using Dynamic Clamp

Frontiers in Pharmacology, 2022
The congenital short QT syndrome (SQTS) is a cardiac condition that leads to abbreviated ventricular repolarization and an increased susceptibility to arrhythmia and sudden death.
Chunyun Du, Randall L. Rasmusson, Randall L. Rasmusson, Glenna C. Bett, Glenna C. Bett, Glenna C. Bett, Brandon Franks, Henggui Zhang, Jules C. Hancox, Jules C. Hancox   +9 more
doaj   +1 more source

Conformable Microelectrode Arrays Integrated with a Scoop‐Shaped Slide‐Well for Dynamic Electrophysiological Profiling of Patient‐Derived Cardiac Organoids

Advanced Science, Volume 13, Issue 31, 4 June 2026.
A flexible, ultrathin multi‐channel microelectrode array (MEA) conformally integrated onto a curved slide‐well enables stable electrical interfacing with 3D cardiac organoids. The geometry‐guided self‐alignment allows simultaneous recording of extracellular field potentials and contractile motion from irregular, beating tissues.
Ye Seul Kim, Jeonghwa Jeong, Gyeonghwa Heo, Young Woo Kwon, Jeongha Lee, Yoon Ji Jeong, Gyu Tae Park, Seongdo Jeong, Ki Won Hwang, Murim Choi, Jinhong Shin, Suck Won Hong, Jae Ho Kim   +12 more
wiley   +1 more source

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome [PDF]

Journal of Medical Genetics, 2006
Background: Andersen-Tawil syndrome (ATS) is a rare inherited disorder, characterised by periodic paralysis, cardiac dysarrhythmias, and dysmorphic features, and is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel, Kir2.1.
C-W, Lu, J-H, Lin, Y S, Rajawat, H, Jerng, T G, Rami, X, Sanchez, G, DeFreitas, B, Carabello, F, DeMayo, D L, Kearney, G, Miller, H, Li, P J, Pfaffinger, N E, Bowles, D S, Khoury, J A, Towbin   +15 more
openaire   +2 more sources

Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities [PDF]

Arquivos de Neuro-Psiquiatria, 2006
Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea ...
Célia H. Tengan, Antonio C. Antunes, José R. Bauab, Gilmar F. Prado, Gilberto M. Manzano, Alberto A. Gabbai   +5 more
doaj   +1 more source

Case report: Mexiletine suppresses ventricular arrhythmias in Andersen-Tawil syndrome

Frontiers in Cardiovascular Medicine, 2022
It is arduous to determine clinical solutions for Andersen-Tawil syndrome (ATS) in patients intolerant of β-blocker. Here, we present the case of a 7-year-old boy with periodic paralysis and dysmorphic features who experienced syncope four times during ...
Jing Yang, Jing Yang, Kun Li, Tingting Lv, Ying Xie, Fang Liu, Ping Zhang, Ping Zhang   +7 more
doaj   +1 more source

PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression

Journal of Biomedical Science, 2017
Background The inward rectifier potassium current IK1 contributes to a stable resting membrane potential and phase 3 repolarization of the cardiac action potential.
Yuan Ji, Marlieke G. Veldhuis, Jantien Zandvoort, Fee L. Romunde, Marien J. C. Houtman, Karen Duran, Gijs van Haaften, Eva-Maria Zangerl-Plessl, Hiroki Takanari, Anna Stary-Weinzinger, Marcel A. G. van der Heyden   +10 more
doaj   +1 more source

Successful treatment of arrhythmia with β‐blocker and flecainide combination in pregnant patients with Andersen–Tawil syndrome: A case report and literature review

Annals of Noninvasive Electrocardiology, 2021
Andersen–Tawil syndrome (ATS) is a rare disorder characterized by a triad of ventricular arrhythmia (VA), dysmorphic features, and periodic paralysis.
Pongprueth Rujirachun, Apichaya Junyavoraluk, Manop Pithukpakorn, Bhoom Suktitipat, Arjbordin Winijkul   +4 more
doaj   +1 more source

Alleviating the Effects of Short QT Syndrome Type 3 by Allele-Specific Suppression of the KCNJ2 Mutant Allele. [PDF]

Int J Mol Sci
Short QT syndrome type 3 (SQTS3 or SQT3), which is associated with life-threatening cardiac arrhythmias, is caused by heterozygous gain-of-function mutations in the KCNJ2 gene.
Wilders R.
europepmc   +2 more sources