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Author

Naoko Matsumoto

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Open access Aug 2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Pathogenic variants in AGO1 and AGO2, core components of the Argonaute family, have emerged as causes of rare neurodevelopmental disorders characterized by intellectual disability, marked language impairment, behavioral abnormalities, and distinctive craniofacial features. Reported variants cluster at the L1-PAZ bounda...

Munetsugu Hara, Nobuhiko Okamoto, Yukihiro Kitai et al. · 0 citations
Aug 2026

Imbalanced p53-RB signaling triggers cGAS-STING-mediated immune activation in early oral cancer development.

Analysis of the TCGA-HNSC cohort showed that combined TP53/CDKN2A alterations significantly separated overall survival and were associated with distinct survival patterns, revealing a previously unrecognized mechanism by which imbalanced p53-RB signaling triggers tumor immunity during the early stages of oral carcinoge...

Zi-Chao Lu, Yasuhiro Mouri, Wenhua Shao et al. · 0 citations

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