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Updated: Aug 2, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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增强剂变种破坏转录因子结合和增强剂不活性导致肺高血压

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
概括

与肺动脉高血压 (PAH) 相关的遗传变异降低了内皮细胞中的SOX17表达. 这种减少会损害细胞功能并导致PAH的发展,但药物化合物可以逆转这些影响.

关键词:
SOX17 蛋白质人类高血压肺部疾病

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