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Updated: Jan 11, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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双基PRMT9功能丧失变体会导致一种综合征形式的智力障碍

Ariane Kröll-Hermi1, Corinne Stoetzel2, Christelle Etard3

  • 1Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.

American journal of human genetics
|November 19, 2025
PubMed
概括

蛋白质氨酸甲基转移酶9 (PRMT9) 的功能丧失变体会导致严重的神经发育障碍. 这项研究确定PRMT9对人类大脑发育和功能至关重要.

关键词:
在PRMT9中使用.智力障碍 智力障碍是一种智力障碍.神经发育障碍是一种神经发育障碍.主要的纤毛是主要的纤毛.整体外因子测序的测序斑马鱼是一种斑马鱼.

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