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In vivo analysis of trafficking and functional impact of hERG pore-domain missense variants in a CRISPR/Cas9-engineered C. elegans model of long QT syndrome.

📚 期刊: Heart rhythm 📅 发表: 🔬 PMID: 42190933 👁️ 浏览: 14

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📝 摘要

Loss-of-function variants in KCNH2, which encodes hERG, are responsible for long QT syndrome type 2 (LQT2), a major cause of sudden cardiac death. Most hERG pore-domain missense variants are associated with severe LQT2. However, functional heterogeneity exists among these variants, with a small subset associated with milder phenotypes. Only a limited number of these atypical variants have been functionally characterized. Caenorhabditis elegans expresses UNC-103, a voltage-gated K
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