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Updated: Aug 2, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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SOX17 増強剤の変種は転写因子結合を妨害し,増強剤の不活性が肺高血圧を誘発する

Rachel Walters1, Eleni Vasilaki1, Jurjan Aman1,2

  • 1National Heart and Lung Institute, Hammersmith Hospital, Imperial College, London, United Kingdom (R.W., E.V., J.A., C.-N.C., Y.W., A.A., O.D., L.Z., F.S., M.R.W., L.Z., C.J.R.).

Circulation
|April 17, 2023
PubMed
まとめ

肺動脈高血圧 (PAH) に関する遺伝的変異は,内皮細胞におけるSOX17発現を減少させる. この減少は細胞機能を低下させ,PAHの発症に寄与しますが,薬剤化合物はこれらの効果を逆転させることができます.

キーワード:
SOX17タンパク質人間高血圧肺疾患

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