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Updated: May 5, 2026

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
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スミス・マゲニス症候群のヒト幹細胞由来皮質神経モデルにおける分子および発達的欠陥

Yu-Ju Lee1, Ya-Ting Chang1, Yoobin Cho1

  • 1Department of Neurology and Neurosurgery, Centre for Research in Neuroscience, The Research Institute of the McGill University Health Centre, Montreal, QC H3G 1A3, Canada.

American journal of human genetics
|August 29, 2025
PubMed
まとめ

スミス・マゲニス症候群 (SMS) は,ヒトの皮質の発達を阻害するゲノム疾患です. 人間の幹細胞モデルでは 17p11.2の削除が脳構造,遺伝子発現,神経機能にどのように影響するか示しています.

キーワード:
CNV についてHi-C についてRAI1 についてSMS についてスミス・マゲニス症候群自閉症皮質オルガノイド人間の幹細胞iPSC についてレチノ酸誘発 1

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