Results 71 to 80 of about 4,086 (181)
Physiological Reports, Volume 14, Issue 11, June 2026.Abstract Heart failure with preserved ejection fraction (HFpEF) is frequently complicated by atrial fibrillation (AF), yet the mechanisms underlying AF vulnerability prior to or independent of extensive structural remodeling remain incompletely understood.
Kohei Kawajiri +6 more
wiley +1 more source
A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1 [PDF]
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-of-function mutations in the same channel cause the short QT3 syndrome.
Binda, Anna +7 more
openaire +4 more sources
, 2007 Andersen-Tawil syndrome is a triad of periodic paralysis, cardiac arrhythmias and dysmorphic features. The causative gene KCNJ2 encoding the Kir2.1 inward-rectifier potassium channel contributes to cell excitability and resting membrane potential in ...
Teodorescu, Georgeta
core +1 more source
, 2019 Correction: Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human ...
PLOS Computational Biology (3212430)
core +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Atrial fibrillation (AF) is one of the common arrhythmia in clinics. Its incidence is high among the elderly. This study aimed to identify a possible connection between ion channel‐related gene polymorphisms and the risk of AF. Methods A total
Xiumin Liu +5 more
doaj +1 more source
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 +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 +3 more
wiley +1 more source
F1000Research, 2017 In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).
Armando Totomoch-Serra +2 more
doaj +1 more source
A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia
Molecular Genetics & Genomic Medicine, 2020 Background Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes, which has been classified into the subtypes A–E.
Mohan Liu +3 more
doaj +1 more source
Advanced Healthcare Materials, Volume 15, Issue 16, 24 April 2026.Patient‐derived cardiac organoids reveal key features of Duchenne muscular dystrophy cardiomyopathy, including apoptosis, oxidative stress, calcium handling defects, and mechanical remodeling. By integrating organoids into alginate–gelatin bioprinted constructs, disease phenotypes are organized into scalable 3D cardiac tissues displaying extracellular ...
Vittoria Marini +15 more
wiley +1 more source