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Updated: Jun 14, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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QSOX2 缺陷引起的矮身,胃肠功能障碍和免疫功能障碍

Avinaash V Maharaj1, Miho Ishida2, Anna Rybak3

  • 1Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, Charterhouse Square, London, UK. a.v.maharaj@qmul.ac.uk.

Nature communications
|September 28, 2024
PubMed
概括

在QSOX2中,衰退变异通过破坏生长激素信号传递和线粒体功能,导致生长失败. 这项研究表明,复合胰岛素样生长因子-1作为相关多系统性疾病的潜在治疗方法.

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