Results 1 to 10 of about 8,166 (199)

Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report

Frontiers in Pediatrics, 2022
Early repolarization syndrome is rare in children. Mutation of genes encoding ion channels could display mixed electrophysiological phenotype of Kv4.3 including both cardiac phenotype (early repolarization syndrome, atrial fibrillation) and cerebral ...
Yi Zhang, He Jiang, Xiao-mei Li
exaly   +3 more sources

Channelopathy Genes in Pulmonary Arterial Hypertension

Biomolecules, 2022
Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. The underlying pathogenetic mechanisms are heterogeneous and current therapies aim to decrease pulmonary vascular ...
Carrie Welch, Wendy Chung
exaly   +3 more sources

Whole genome sequencing in paediatric channelopathy and cardiomyopathy

Frontiers in Cardiovascular Medicine
BackgroundPrecision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel and exome-based testing, whole genome sequencing (WGS) offers additional coverage at the ...
Anna Ka-Yee Kwong, Christopher C Y Mak
exaly   +3 more sources

Epigenetic regulation of beta-endorphin synthesis in hypothalamic arcuate nucleus neurons modulates neuropathic pain in a rodent pain model

Nature Communications, 2023
Although beta-endorphinergic neurons in the hypothalamic arcuate nucleus (ARC) synthesize beta-endorphin (β-EP) to alleviate nociceptive behaviors, the underlying regulatory mechanisms remain unknown.
Yu Tao, Yuan Zhang, Xiaohong Jin, Nan Hua, Hong Liu, Renfei Qi, Zitong Huang, Yufang Sun, Dongsheng Jiang, Terrance P. Snutch, Xinghong Jiang, Jin Tao   +11 more
doaj   +1 more source

Sex differences in global disability-adjusted life years due to ischemic stroke: findings from global burden of diseases study 2019

Scientific Reports, 2022
To investigate the sex differences in disability-adjusted life years (DALYs) due to ischemic stroke (IS) by year, location and age. We extracted sex-specific data on DALYs number, age-standardized DALYs rate (ASDR) and all-age DALYs rate of IS by year ...
Miaomiao Cao, Bolin Li, Jie Rong, Qian Li, Chaofeng Sun   +4 more
doaj   +1 more source

Trace amine-associated receptor 1 regulation of Kv1.4 channels in trigeminal ganglion neurons contributes to nociceptive behaviors

The Journal of Headache and Pain, 2023
Background Trace amines, such as tyramine, are endogenous amino acid metabolites that have been hypothesized to promote headache. However, the underlying cellular and molecular mechanisms remain unknown.
Yuan Zhang, Hua Wang, Yufang Sun, Zitong Huang, Yu Tao, Yiru Wang, Xinghong Jiang, Jin Tao   +7 more
doaj   +1 more source

Evaluation of subcutaneous implantable cardioverter-defibrillator performance in patients with ion channelopathies from the EFFORTLESS cohort and comparison with a meta-analysis of transvenous ICD outcomes

Heart Rhythm O2, 2020
Background: The subcutaneous implantable cardioverter-defibrillator (S-ICD) is an alternative to conventional transvenous ICD (TV-ICD) therapy to reduce lead complications.
Pier D. Lambiase, MBChB, PhD, FHRS, Lars Eckardt, MD, Dominic A. Theuns, PhD, Timothy R. Betts, MD, Andreas L. Kyriacou, MBChB, FRCP, PhD, CCDS, Elizabeth Duffy, MS, Reinoud Knops, MD, PhD, CCDS   +6 more
doaj   +1 more source

1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants

Human Genomics, 2022
Background The prevalence and genetic spectrum of cardiac channelopathies exhibit population-specific differences. We aimed to understand the spectrum of cardiac channelopathy-associated variations in India, which is characterised by a genetically ...
Anjali Bajaj, Vigneshwar Senthivel, Rahul Bhoyar, Abhinav Jain, Mohamed Imran, Mercy Rophina, Mohit Kumar Divakar, Bani Jolly, Ankit Verma, Anushree Mishra, Disha Sharma, Siddharthan Deepti, Gautam Sharma, Raghav Bansal, Rakesh Yadav, Vinod Scaria, Nitish Naik, Sridhar Sivasubbu   +17 more
doaj   +1 more source

The safety of sports in children with inherited arrhythmia substrates

Frontiers in Pediatrics, 2023
Sudden cardiac death (SCD) is a rare and devastating event in children and remains a leading cause of death in young athletes. Channelopathies and cardiomyopathies, in particular long QT syndrome (LQTS), catecholaminergic polymorphic ventricular ...
Abhay Katyal, Christopher O. Y. Li, Sonia Franciosi, Shubhayan Sanatani   +3 more
doaj   +1 more source

Calmodulin Mutations in Human Disease

Channels, 2023
Calcium ions (Ca2+) are the basis of a unique and potent array of cellular responses. Calmodulin (CaM) is a small but vital protein that is able to rapidly transmit information about changes in Ca2+ concentrations to its regulatory targets.
John W. Hussey, Worawan B. Limpitikul, Ivy E. Dick   +2 more
doaj   +1 more source