Results 71 to 80 of about 6,365 (192)

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

open access: yesAnnals 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   +4 more
doaj   +1 more source

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

open access: yesActa 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

Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture [PDF]

open access: yesNature Genetics, 2019
The genome is organized in three-dimensional units called topologically associating domains (TADs), through a process dependent on the cooperative action of cohesin and the DNA-binding factor CTCF. Genomic rearrangements of TADs have been shown to cause gene misexpression and disease, but genome-wide depletion of CTCF has no drastic effects on ...
Alexandra Despang   +11 more
openaire   +4 more sources

The research of ion channel‐related gene polymorphisms with atrial fibrillation in the Chinese Han population

open access: yesMolecular 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

Opening closed inward rectifier potassium channel doors

open access: yesBritish 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

Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome [version 1; referees: 2 approved]

open access: yesF1000Research, 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

The next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity [PDF]

open access: yes, 2016
Background The ability to capture and sequence large contiguous DNA fragments represents a significant advancement towards the comprehensive characterization of complex genomic regions. While emerging sequencing platforms are capable of producing several
Ariella Sasson   +10 more
core   +3 more sources

Patient‐Derived 3D Bioprinted Cardiac Organoid Constructs Reveal Key Pathological Features of Duchenne Muscular Dystrophy

open access: yesAdvanced 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

Modulation of gene expression in endothelial cells in response to high LET nickel ion irradiation [PDF]

open access: yes, 2014
Ionizing radiation can elicit harmful effects on the cardiovascular system at high doses. Endothelial cells are critical targets in radiation-induced cardiovascular damage.
Aerts, An   +15 more
core   +1 more source

Cardiac Manifestations of KCNK17 Mutations and/or Polymorphisms: A Systematic Review

open access: yesHealth Science Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background and Aims The KCNK17 gene encodes k2p17.1 channels (TASK‐4 or TALK‐2) with dominant expressions in the atria and the Purkinje fibers. Emerging studies have suggested possible associations between KCNK17 variants and cardiovascular as well as cerebrovascular diseases. This review aimed to systematically evaluate the evidence on KCNK17
Amir Askarinejad   +4 more
wiley   +1 more source

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