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Updated: Oct 7, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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一般的な祖先特異的なイオンチャネル変異は,薬物誘発性不律症に誘発する

Yuko Wada, Tao Yang1, Christian M Shaffer1

  • 1Department of Medicine (Y.W., T.Y., C.M.S., L.L.D., A.M.G., G.E.D.), Vanderbilt University Medical Center, Nashville, TN.

Circulation
|January 7, 2022
PubMed
まとめ

常見のSCN5A変異は,ベースラインのリポラライゼーションに影響を及ぼさないが,IKrが阻害された場合,QT延長のリスクが増加する. これは 薬物反応の研究において 多様な集団の必要性を強調しています

キーワード:
トルサデス・ド・ポイントス薬物関連副作用および副作用誘導された多能幹細胞長いQTシンドローム筋細胞,心臓カリウムチャネルナトリウムチャネル

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