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Updated: Jul 7, 2026

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
08:09

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Published on: June 7, 2018

WDR59は,オートソーム・リセッシブ・シンドローム・ディラテッド・カルジオミオパシーを持つ個体において変異している

Lama Alabdi1, Benjamin Cogne2,3,4, Ali S Almasood5

  • 1Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Clinical genetics
|February 20, 2026
PubMed
まとめ

WDR59の遺伝子変異は,小児における重度の小児拡張心筋病 (DCM) を引き起こします. この発見は,DCMの病原性におけるGATOR2-mTORC1経路を暗示し,研究のための新しい道を開く.

キーワード:
WDR59は,WDR59で表示されています.RNA-seqqが使われています.カーディオミオパシー カーディオミオパシー非正規の変種は,非正規の変種である.

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