← 返回

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 日期: 2026-05-25 PMID: 42190933 浏览: 45
Anonymous (2026). 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.. Heart rhythm.
Anonymous. 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.. Heart rhythm. 2026; PMID: 42190933
Anonymous. 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.[J]. Heart rhythm. 2026.
@article{paper2026,
  author = {Anonymous},
  title = {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.},
  journal = {Heart rhythm},
  year = {2026},
  note = {PMID: 42190933},
}
TY  - JOUR
AU  - Anonymous
TI  - 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.
T2  - Heart rhythm
PY  - 2026
AN  - PMID:42190933
ER  - 

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

AI 智能解读

相关文献

返回分类: 心血管
已选择 0 篇文献