Fumio Takada 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（11 件）

• [2025] Deep intronic variant in TYR causes OCA1A in Japanese families through pseudoexon activation
  DOI: https://doi.org/10.1016/j.jdermsci.2025.09.003
• [2025] Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer
  DOI: https://doi.org/10.1038/s10038-025-01365-7
• [2025] Novel OTOG Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort
  DOI: https://doi.org/10.3390/genes16010060
• [2024] Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome
  DOI: https://doi.org/10.1016/j.gimo.2024.101838
• [2022] [Clinical Outcome of Microsatellite Instability-High Patients Treated with Pembrolizumab and Genetic Counseling].
• [2022] Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants
  DOI: https://doi.org/10.1530/ec-22-0151
• [2022] Molecular Basis for Hypochondroplasia in Japan
  DOI: https://doi.org/10.3390/endocrines3030034
• [2022] A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia
  DOI: https://doi.org/10.1038/s41439-022-00186-w
• [2022] Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
  DOI: https://doi.org/10.1038/s10038-022-01025-0
• [2021] A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
  DOI: https://doi.org/10.1038/s41439-021-00166-6

科研費（0 件）

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所属学会・役職（0 件）

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