Results 31 to 40 of about 16,843 (240)

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

Monomorphic Ventricular Arrhythmias in Athletes. [PDF]

, 2019
Ventricular arrhythmias are challenging to manage in athletes with concern for an elevated risk of sudden cardiac death (SCD) during sports competition. Monomorphic ventricular arrhythmias (MMVA), while often benign in athletes with a structurally normal
Aboulhosn, Jamil A, Boyle, Noel G, Bradfield, Jason S, Dave, Ravi H, Horwich, Tamara B, Hsu, Jeffrey J, Nsair, Ali, Shannon, Kevin M, Shivkumar, Kalyanam   +8 more
core   +2 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

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

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

Atrial fibrillation and electrophysiology in transgenic mice with cardiac-restricted overexpression of FKBP12 [PDF]

, 2019
Cardiomyocyte-restricted overexpression of FK506-binding protein 12 transgenic (αMyHC-FKBP12) mice develop spontaneous atrial fibrillation (AF). The aim of the present study is to explore the mechanisms underlying the occurrence of AF in αMyHC-FKBP12 ...
Ai, Tomohiko, Chang, Po-Cheng, Chen, Hanying, Chen, Peng-Sheng, Fishbein, Michael C., Homsi, Mohamed, Li, Bai-Yan, Lin, Shien-Fong, Liu, Jijia, Liu, Ying, Maruyama, Mitsunori, Pan, Zhenwei, Rubart, Michael, Shou, Weinian, Xiao, Deyong   +14 more
core   +1 more source

Chloride channelopathies

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2009
Channelopathies, defined as diseases that are caused by mutations in genes encoding ion channels, are associated with a wide variety of symptoms. Impaired chloride transport can cause diseases as diverse as cystic fibrosis, myotonia, epilepsy, hyperekplexia, lysosomal storage disease, deafness, renal salt loss, kidney stones and osteopetrosis.
Planells-Cases, Rosa, Jentsch, Thomas J.
openaire   +3 more sources

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

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

Episodic and electrical nervous system disorders caused by nonchannel genes. [PDF]

, 2015
As noted in the separate introduction to this special topic section, episodic and electrical disorders can appear quite different clinically and yet share many overlapping features, including attack precipitants, therapeutic responses, natural history ...
Fu, Ying-Hui, Lee, Hsien-yang, Ptáček, Louis J   +2 more
core   +1 more source