Results 101 to 110 of about 9,985 (188)

Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10

Movement Disorders Clinical Practice, EarlyView.
Clément Desjardins, Jiyoon Baik, Lorenzo Bresciani, Christelle Nilles, Cendrine Foucard, Mathieu Georget, Lina Daghsen, Bertrand Degos, Aurélie Méneret, Emmanuel Roze   +9 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

Carotid body overactivity induces respiratory neurone channelopathy contributing to neurogenic hypertension

, 2015
Why sympathetic activity rises in neurogenic hypertension remains unknown. It has been postulated that changes in the electrical excitability of medullary pre-sympathetic neurones are the main causal mechanism for the development of sympathetic ...
Moraes, Davi J A, Machado, Benedito H, Paton, Julian F R   +2 more
core   +1 more source

BK channel activity in skin fibroblasts from patients with neurological disorder

Channels
Seventy-five unique variants in the KCNMA1 gene have been identified from individuals with neurological disorders. However, variant pathogenicity and evidence for disease causality are lacking in most cases.
Ria L. Dinsdale, Thomas R. Middendorf, Deborah Disilvestre, David Adams, William Gahl, Ellen F. Macnamara, Lynne Wolfe, Camilo Toro, Cynthia J. Tifft, Andrea L. Meredith   +9 more
doaj   +1 more source

Extracellular ionic concentration modulates arrhythmias in a simulated population of human ventricular myocytes with long QT syndrome type 3

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic illustrating the in silico study pipeline. A total of 50,000 virtual myocytes were generated, which were then filtered to 7093 myocytes that fit experimentally constrained biomarkers for physiological electrical and calcium behaviour under wild‐type conditions.
Katherine Flannery, Jacob A. Miller, Steven Poelzing, Seth H. Weinberg   +3 more
wiley   +1 more source

Case Report of Andersen–Tawil Syndrome: Rare Presentation of a Rare Disease

Annals of Indian Academy of Neurology
Andersen–Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life.
Himanshu Shakya, Shivangi Bhatnagar, Pratik Babel, Suman Kushwaha, Rajinder K Dhamija   +4 more
doaj   +1 more source

A Propeller with a Flexible Twist: A Computational Analysis of Intrinsically Disordered Regions in PIEZO Gating and PIEZO-Associated Channelopathies

Proteomes
Background: Mechanosensitive ion channels PIEZO1 and PIEZO2 are key mediators of mechanotransduction, which converts physical forces into cellular signals involved in proprioception, touch, vascular function, and other physiological processes.
Shivam Shukla, Mason Elzy, Abiral Shrestha, Vladimir N. Uversky   +3 more
doaj   +1 more source

Voltage‐gated potassium channels mediate thyroid hormone control of skeletal muscle excitability

The Journal of Physiology, EarlyView.
Abstract figure legend Thyroid hormone (TH)‐dependent remodelling of potassium (K+) channel networks regulates skeletal muscle (SkM) excitability. Triiodothyronine (T3), locally generated from thyroxine (T4) by type 2 deiodinase (D2), binds thyroid hormone receptors (TRα/β) and modulates transcription via thyroid response elements (TREs).
Annarita Nappi, Caterina Miro, Annunziata Gaetana Cicatiello, Ilaria Piccialli, Serena Sagliocchi, Lucia Acampora, Federica Restolfer, Rosa Sirica, Melania Murolo, Emery Di Cicco, Daniela Terracciano, Anna Pannaccione, Monica Dentice   +12 more
wiley   +1 more source

Time‐Efficient Interleaved Spin Density‐Weighted and Inversion Recovery 23Na MRI of the Human Calf Muscle at 7 T

Magnetic Resonance in Medicine, Volume 96, Issue 6, Page 2675-2684, December 2026.
ABSTRACT Purpose Spin density‐weighted (SDW) and inversion recovery (IR) 23Na MRI provide different sodium contrasts with complementary information. Therefore, the aim was to develop a time‐efficient sequence scheme capable of providing both contrasts by acquiring SDW and IR 23Na MRI data within a single sequence without additional measurement time ...
Tobias Wilferth, Fiona Meyer, Jordan M. Höhn, Michael Uder, Armin M. Nagel   +4 more
wiley   +1 more source

Predictors of Ventricular Abnormalities in Children with Idiopathic Ventricular Extrasystoles

Children
Background and Objectives: Ventricular extrasystoles, which are the most common arrhythmias in healthy children and adolescents, could be a reliable factor for the prognosis of structural heart diseases.
Rita Kunigeliene, Odeta Kinciniene, Germanas Marinskis, Vytautas Usonis   +3 more
doaj   +1 more source