Atsuko Imai‐Okazaki 研究室

AI 要約（直近 5 年の研究成果）

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

研究成果（14 件）

• [2026] Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers
  DOI: https://doi.org/10.1038/s41569-026-01301-y
• [2025] Identification of Intronic Variants in <i>NDUFA3</i> as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing
  DOI: https://doi.org/10.1212/nxg.0000000000200330
• [2025] Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia
  DOI: https://doi.org/10.3390/ijns11030061
• [2025] Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction
  DOI: https://doi.org/10.1038/s10038-025-01356-8
• [2025] Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis
  DOI: https://doi.org/10.1016/j.ymgme.2025.109113
• [2025] Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis
  DOI: https://doi.org/10.1002/mgg3.70048
• [2023] Strategic validation of variants of uncertain significance in <i>ECHS1</i> genetic testing
  DOI: https://doi.org/10.1136/jmg-2022-109027
• [2023] Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G &gt; A MT-TS2 pathogenic variant in a Japanese family
  DOI: https://doi.org/10.1016/j.ymgmr.2023.100966
• [2022] Impact of measuring heteroplasmy of a pathogenic mitochondrial <scp>DNA</scp> variant at the single‐cell level in individuals with mitochondrial disease
  DOI: https://doi.org/10.1002/jimd.12547
• [2021] Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G &gt; A
  DOI: https://doi.org/10.1016/j.mito.2021.12.005

科研費（0 件）

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所属学会・役職（0 件）

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