論文 - 詳細
| RRC ID | 88078 |
|---|---|
| 著者 | Delinière A, Boulin T, Jospin M, Janin A, Millat G, Chevalier P, Andrini O. |
| タイトル | Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes. |
| ジャーナル | J Physiol |
| Abstract |
Inherited primary arrhythmia syndromes (IPAS) are genetic heart diseases associated with an elevated risk of sudden cardiac death, particularly in young individuals. Modelling these rare and serious conditions is essential to elucidate their mechanisms and to identify new treatments. Most genes involved in IPAS (e.g., congenital long-QT syndrome, catecholaminergic polymorphic ventricular tachycardia, calcium-release deficiency syndrome, Andersen-Tawil syndrome, Timothy syndrome, calmodulinopathies, and short-QT syndrome) are conserved in Caenorhabditis elegans, a model organism that offers powerful genetic tools for precise gene manipulation, including knock-in, knock-out, and knock-down approaches. In vivo studies in C. elegans can be used to characterize the consequences of genetic variants (at molecular, cellular, tissue, and behavioural scales), to identify new regulatory proteins, and to perform drug testing. Here we summarize the characteristics of human IPAS and highlight the accumulating evidence that supports the utility of C. elegans as a simple yet powerful in vivo model for these diseases, capable of filling the gap between in vitro studies and complex transgenic animal models. |
| 公開日 | 2025-12-4 |
| DOI | 10.1113/JP289661 |
| PMID | 41342285 |
| オルトメトリクス指標 |
オルトメトリクス指標項目
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| 最多言及媒体 | X(Twitter) |
| 各媒体での言及数の合計 | 2 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| 線虫 | tm542 |