Results 31 to 40 of about 11,955 (223)

Preface

Cardiogenetics, 2011
On behalf of the Working Group on Cellular and Molecular Biology of the Italian Society of Cardiology, we are glad to present this special issue devoted to Channelopathies, the genetically transmitted ion channel diseases.The relevance of Channelopathies
Lia Crotti
doaj   +1 more source

hiPSC-Derived Cardiomyocyte Model of LQT2 Syndrome Derived from Asymptomatic and Symptomatic Mutation Carriers Reproduces Clinical Differences in Aggregates but Not in Single Cells

Cells, 2020
Mutations in the HERG gene encoding the potassium ion channel HERG, represent one of the most frequent causes of long QT syndrome type-2 (LQT2). The same genetic mutation frequently presents different clinical phenotypes in the family. Our study aimed to
Disheet Shah, Chandra Prajapati, Kirsi Penttinen, Reeja Maria Cherian, Jussi T. Koivumäki, Anna Alexanova, Jari Hyttinen, Katriina Aalto-Setälä   +7 more
doaj   +1 more source

Calcium Transport in the Kidney and Disease Processes

Frontiers in Endocrinology, 2022
Calcium is a key ion involved in cardiac and skeletal muscle contractility, nerve function, and skeletal structure. Global calcium balance is affected by parathyroid hormone and vitamin D, and calcium is shuttled between the extracellular space and the ...
Ramy M. Hanna, Rebecca S. Ahdoot, Kamyar Kalantar-Zadeh, Lena Ghobry, Ira Kurtz, Ira Kurtz   +5 more
doaj   +1 more source

Autoimmune channelopathies

Nature Clinical Practice Neurology, 2005
Autoimmune disorders of the neuromuscular junction remain a paradigm for our understanding of autoimmunity. Since the role of autoantibodies to acetylcholine receptors in the pathogenesis of myasthenia gravis was first recognized in the 1970s, a range of antibody-mediated disorders of the neuromuscular junction have been described, each associated with
Buckley, C, Vincent, A
openaire   +3 more sources

Overlapping Autoimmune Syndromes in Patients With Glial Fibrillary Acidic Protein Antibodies

Frontiers in Neurology, 2018
BackgroundGlial fibrillary acidic protein (GFAP) astrocytopathy, an autoimmune central nervous system disorder with a specific GFAP-IgG, often coexists with other antibodies.ObjectiveThe aim of this article was to study overlapping syndromes in ...
Xinguang Yang, Xinguang Yang, Huiming Xu, Huiming Xu, Meilin Ding, Qingmei Huang, Qingmei Huang, Baikeng Chen, Baikeng Chen, Huacai Yang, Huacai Yang, Tianni Liu, Tianni Liu, Youming Long, Youming Long, Cong Gao, Cong Gao   +16 more
doaj   +1 more source

Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies

Journal of Biomedical Science, 2017
Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition.
Simona Magi, Vincenzo Lariccia, Marta Maiolino, Salvatore Amoroso, Santo Gratteri   +4 more
doaj   +1 more source

Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes

Clinical Medicine Insights: Cardiology, 2017
Cardiac ion channelopathies are an important cause of sudden death in the young and include long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, and short QT syndrome.
Thomas M Roston, Taylor Cunningham, Anna Lehman, Zachary W Laksman, Andrew D Krahn, Shubhayan Sanatani   +5 more
doaj   +1 more source

A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

Frontiers in Physiology, 2020
Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K+ channel subunits, are responsible for early−onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from benign ...
Francesco Miceli, Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L. Heinzen, Erin L. Heinzen, Arthur M. Mandel, Natalie Lippa, Louise Bier, David B. Goldstein, Edward C. Cooper, Maria Roberta Cilio, Maurizio Taglialatela, Tristan T. Sands, Tristan T. Sands   +14 more
doaj   +1 more source

TRPM3 in Brain (Patho)Physiology

Frontiers in Cell and Developmental Biology, 2021
Already for centuries, humankind is driven to understand the physiological and pathological mechanisms that occur in our brains. Today, we know that ion channels play an essential role in the regulation of neural processes and control many functions of ...
Katharina Held, Katharina Held, Balázs István Tóth   +2 more
doaj   +1 more source

Cardiac channelopathies: genetic and molecular mechanisms

, 2013
Channelopathies are diseases caused by dysfunctional ion channels, due to either genetic or acquired pathological factors. Inherited cardiac arrhythmic syndromes are among the most studied human disorders involving ion channels.
Zaklyazminskaya, Elena V, Abriel, Hugues
core   +1 more source