Results 101 to 110 of about 11,955 (223)

Potential health benefits of cold‐water immersion: the central role of PGC‐1α

The Journal of Physiology, EarlyView.
Abstract figure legend Cold‐water immersion (CWI) elicits autonomic, somato‐motoric (shivering thermogenesis), endocrine and metabolic, sensory transduction, and local biophysical effects that may converge on the transcriptional co‐activator PGC‐1α (centre).
Erich Hohenauer, Wafa Douzi, Johannes Burtscher   +2 more
wiley   +1 more source

Precision Medicine and Cardiac Channelopathies: Human iPSCs Take the Lead

, 2023
Sudden cardiac death (SCD) is one of the leading causes of death worldwide, usually involving young people. SCD remains a critical public health problem accounting for 185,000-450,000 deaths annually, representing around 7%-18% of all deaths globally. As
Dolack, Lee, Panthangi, Venkatesh, Sethi, Yashendra, Affas, Ziad R, Sebastian, Sneha Annie, Padda, Inderbir, Mareddy, Chinmaya, Johal, Gurpreet, Khan, Ubaid   +8 more
core   +1 more source

Genetic Variants as a Potentially Arrhythmogenic Substrate in Mitral Annular Disjunction: Case Report and a Systematic Review of the Literature

Cardiogenetics
Mitral annular disjunction (MAD) is associated with an increased risk of ventricular arrhythmias and sudden cardiac death, yet its genetic background remains poorly defined. We report the case of a 50-year-old man with MAD who survived cardiac arrest and
Lorenzo Bianchi, Marialaura Buscemi, Domenico Coviello, Massimiliano Cecconi, Andrea Minghini, Stefano Cornara, Matteo Astuti, Francesco Pentimalli, Pietro Bellone, Emmanuel Androulakis, Alberto Somaschini   +10 more
doaj   +1 more source

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

[Electrophysiological testing in muscle channelopathies].

, 2004
Electrodiagnostic testing should always be tailored to the clinical setting; in the muscle channelopathies, provocative tests are essential to demonstrate the modifications of the muscle excitability.
Kuntzer T
core   +1 more source

Human‐derived cardiac‐neural microtissues reveal catecholaminergic polymorphic ventricular tachycardia is also a disease of the sympathetic neuron

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic diagram illustrating the proposed pathway in which regulatory defects might occur in sympathetic neurons derived from hiPSC in catecholaminergic polymorphic ventricular tachycardia (CPVT). Specifically, enhanced calcium transients appeared to derive from three sources: enhanced membrane excitability (due to loss of ...
Ni Li, Chenchen Zhang, Mengying Xu, YoonYoung Choi, Davi Sidarta‐Oliveira, Ruirui Dong, Xinyu Hu, Enrique M. Toledo, Cesar A. Prada‐Medina, Finbar Argus, Kun Liu, Mingyu Li, Linna Zhou, Hagan Bayley, Corey Smith, Chris Denning, Ana I. Domingos, Guoliang Hao, Dan Li, David J. Paterson   +19 more
wiley   +1 more source

Calcium in Brugada Syndrome: Questions for Future Research

Frontiers in Physiology, 2018
The Brugada syndrome (BrS) is characterized by coved-type ST-segment elevation in the right precordial leads on the electrocardiogram (ECG) and increased risk of sudden cardiac death (SCD).
Michelle M. Monasky, Carlo Pappone, Marco Piccoli, Andrea Ghiroldi, Emanuele Micaglio, Luigi Anastasia, Luigi Anastasia   +6 more
doaj   +1 more source

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

Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]

, 2016
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Spillane, J, Kullmann, DM, Hanna, MG
core