Results 51 to 60 of about 860 (142)

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

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

Population‐Based Study Found Low Risk of Misdiagnosing Long QT Syndrome as Breath‐Holding Spells in Swedish Children

Acta Paediatrica, Volume 115, Issue 5, Page 1116-1125, May 2026.
ABSTRACT Aim An electrocardiogram is commonly recommended in breath‐holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath‐holding spells in a paediatric population in southern Sweden.
Sanna Hellström Schmidt, Ida Jeremiasen, Erik A. Eklund, Cornelis Jan Pronk   +3 more
wiley   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Severe exacerbation of Andersen–Tawil syndrome secondary to thyrotoxicosis [PDF]

Journal of Human Genetics, 2014
Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of weakness. Although TPP has been described in patients all over the world, it is especially frequent in Asiatic patients. Recently, two genomewide association studies have found a susceptibility locus on chromosome 17q24.3 near the KCNJ2 gene ...
Diaz-Manera J, Querol L, Alejaldre A, Rojas-Garcia R, Ramos-Fransi A, Gallardo E, Illa I   +6 more
openaire   +4 more sources

Hyperthyroid Hypokalemic Periodic Paralysis in a Nepali Male; A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Hyperthyroid Hypokalemic Periodic Paralysis (HHPP), marked by acute weakness and hypokalemia. Prompt potassium replacement and hyperthyroidism management are essential to prevent life‐threatening outcomes. This case highlights its presentation in a Nepali male, reinforcing the need for high clinical suspicion.
Ashish Tamang, Prakash Sapkota, Sankalpa Humagain, Kemisha Dhakal, Chhavi Sachdeva, Deshant Shah, Prakriti Lamsal   +6 more
wiley   +1 more source

Chronic Propafenone Application Increases Functional K_IR2.1 Expression In Vitro

Pharmaceuticals, 2023
Expression and activity of inwardly rectifying potassium (KIR) channels within the heart are strictly regulated. KIR channels have an important role in shaping cardiac action potentials, having a limited conductance at depolarized potentials but ...
Encan Li, Willy Kool, Liset Woolschot, Marcel A. G. van der Heyden   +3 more
doaj   +1 more source

Exploring the perspectives and voices of students with autism on the academic adjustments they receive: A systematic review

Journal of Research in Special Educational Needs, Volume 25, Issue 4, Page 958-972, October 2025.
Abstract As the number of students with autism enrolled in general education increases, there remains a need to support their academic achievement. While much of the existing literature presents the ways that teachers can support the social, emotional or sensory needs of students with autism, research into the academic supports for school‐aged students
Aidan McKeegan, Jessica Zoe Zanuttini
wiley   +1 more source

Development of new Kir2.1 channel openers from propafenone analogues

British Journal of Pharmacology, Volume 182, Issue 3, Page 633-650, February 2025.
Background and Purposes Reduced inward rectifier potassium channel (Kir2.1) functioning is associated with heart failure and may cause Andersen‐Tawil Syndrome, among others characterized by ventricular arrhythmias. Most heart failure or Andersen–Tawil Syndrome patients are treated with β‐adrenoceptor antagonists (β‐blockers) or sodium channel blockers;
Encan Li, Najla Boujeddaine, Marien J. C. Houtman, Renee G. C. Maas, Joost P. G. Sluijter, Gerhard F. Ecker, Anna Stary‐Weinzinger, Willem B. van Ham, Marcel A. G. van der Heyden   +8 more
wiley   +1 more source

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1

Frontiers in Cellular Neuroscience, 2018
Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-
Anna Binda, Ilaria Rivolta, Chiara Villa, Elisa Chisci, Massimiliano Beghi, Cesare M. Cornaggia, Roberto Giovannoni, Romina Combi   +7 more
doaj   +1 more source