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Updated: Feb 22, 2026

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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FSD1Lのバイアレル変異は,神経学的関与があるか否かに関わらず,レチニティス・ピグメントーザを引き起こす

Siying Lin1, Francesca Cancellieri2, Yexuan Cao3

  • 1Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital & Department of Ophthalmology, Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK; UCL Institute of Ophthalmology, University College London, London, UK.

American journal of human genetics
|February 20, 2026
PubMed
まとめ

新しい研究では,FSD1L遺伝子の希少変異が,遺伝性網膜疾患 (IRD),特に網膜色素炎 (RP) の原因であると特定されています. この発見は,遺伝的識別が欠けているRP患者のための潜在的な分子診断を提供します.

キーワード:
FSD1L (FSD1L) とはシリア シリア シリアゲノムシーケンシング遺伝性網膜変形症 (遺伝性網膜変形症) とはナノポーアのシーケンシング網膜に濃縮されたアイソフォーム.網膜トランスクリプトロミクスレチニティス・ピグメントーザ単細胞トランスクリプトームスプライス・バリエーションのスプライス・バリエーションです.

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