Results 21 to 30 of about 11,955 (223)

The renal channelopathies [PDF]

open access: yesAnnals of Clinical Biochemistry: International Journal of Laboratory Medicine, 2014
Specific channels permit movement of selected ions through cellular membranes, and are of vital importance in a number of physiological processes, particularly in excitable tissues such as nerve and muscle, but also in endocrine organs and in epithelial biology.
K W, Loudon, A C, Fry
openaire   +2 more sources

Inherited arrhythmia syndrome predisposing to sudden cardiac death [PDF]

open access: yesThe Korean Journal of Internal Medicine, 2021
Inherited arrhythmia (IA) is one of the main causes of sudden cardiac death (SCD) in young people, and is reported to be a more prevalent cause of SCD in Asia than in Western countries.
Yun Gi Kim   +3 more
doaj   +1 more source

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Sudden cardiac arrest is the leading mode of death in the United States. Epilepsy affects 1% of Americans; yet epidemiological data show a prevalence of 4% in cases of sudden cardiac arrest.
C. Anwar A. Chahal   +17 more
doaj   +1 more source

Bone Marrow Stromal Cells Alleviate Secondary Damage in the Substantia Nigra After Focal Cerebral Infarction in Rats

open access: yesFrontiers in Cellular Neuroscience, 2019
Transplantation of bone marrow stromal cells (BMSCs) is a promising therapy for ischemic stroke. Previously, we had reported that the secondary degeneration occurred in the ipsilateral substantia nigra (SN) after permanent distal branch of middle ...
Jizi Jin   +13 more
doaj   +1 more source

Challenges and innovation: Disease modeling using human-induced pluripotent stem cell-derived cardiomyocytes

open access: yesFrontiers in Cardiovascular Medicine, 2022
Disease modeling using human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) has both challenges and promise. While patient-derived iPSC-CMs provide a unique opportunity for disease modeling with isogenic cells, the challenge is that ...
Louise Reilly   +4 more
doaj   +1 more source

risk stratification of cardiac channelopathies

open access: yes, 2023
Channelopathies are the leading causes of SCD in patients without structural heart disease. Missing the diagnosis of high-risk but concealed channelopathies could have lethal clinical consequences.
Chan, Kit, Kit Chan
core   +1 more source

Pain as a channelopathy [PDF]

open access: yesJournal of Clinical Investigation, 2010
Mendelian heritable pain disorders have provided insights into human pain mechanisms and suggested new analgesic drug targets. Interestingly, many of the heritable monogenic pain disorders have been mapped to mutations in genes encoding ion channels. Studies in transgenic mice have also implicated many ion channels in damage sensing and pain modulation.
Raouf, Ramin   +2 more
openaire   +3 more sources

An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies

open access: yesFrontiers in Neurology, 2020
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in ...
Fernando Morales, Michael Pusch
doaj   +1 more source

Ion Channels as Therapeutic Targets for Viral Infections: Further Discoveries and Future Perspectives

open access: yesViruses, 2020
Ion channels play key roles in almost all facets of cellular physiology and have emerged as key host cell factors for a multitude of viral infections. A catalogue of ion channel-blocking drugs have been shown to possess antiviral activity, some of which ...
Frank W. Charlton   +6 more
doaj   +1 more source

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

open access: yesFrontiers in Pediatrics, 2021
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark.
Mercedes Serrano, Mercedes Serrano
doaj   +1 more source

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