関連する実験動画

Updated: Sep 9, 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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TAOK2は,16p11.2の削除と重複のキャリアにおける対抗性シリア長さの赤字を誘導する

Sujin Byeon1, Amy Ferreccio2, Moira Cornell2

  • 1Department of Pharmacology, University of Washington, Seattle, WA 98195, USA; Graduate Program in Neuroscience, University of Washington, Seattle, WA 98195, USA.

Stem cell reports
|August 29, 2025
PubMed
まとめ

16p11.2場所の複製数の変動は,主シリアの長さを変化させることで脳サイズに影響します. TAOK2キナーゼによって調節される異常なシリアの長さは,16p11.2の複製数変異の病理学に関係しています.

キーワード:
16p11.2 CNV について16p11. 2 CNVに関連した神経発達障害TAOK2 について自閉症ニューラルプロジェニター細胞ニューラルプロジェニタ主要なニキビプライマリ・シリウム

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