Publications by authors named "N Kamoshita"
Epithelial cells, which are non-immune cells, not only function as a physical defence barrier but also continuously monitor and eliminate aberrant epithelial cells in their vicinity. In other words, it has become evident that epithelial cells possess immune cell-like functions. In fact, recent research has revealed that epithelial cells recognise the Major Histocompatibility Complex I (MHC-I) of aberrant cells as a mechanism for surveillance.
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- Genetic diagnosis is crucial for hemophilia patients, but some still have unidentified mutations; this study focused on a new approach using induced pluripotent stem cells (iPSCs) to investigate hemophilia A.
- Researchers analyzed siblings with moderate hemophilia, found a deep intronic variant in the F8 gene that likely disrupts splicing, leading to abnormal mRNA and reduced factor VIII production.
- The study successfully used genome editing to correct the splicing issue, restoring F8 mRNA and factor VIII production, demonstrating the potential of personalized gene therapy in treating hemophilia.
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- * Intravenous injection of AAV.GT5 resulted in similar liver transduction in both humanized mice and macaques, but it had a low recovery and short half-life due to its positive charge affecting blood interactions.
- * Enhanced liver transduction was achieved by administering AAV.GT5 directly into the liver, and unlike AAV-Spark100, AAV.GT5 showed a lower tendency to generate neutralizing antibodies, suggesting it
Background: Base editing via CRISPR-Cas9 has garnered attention as a method for correcting disease-specific mutations without causing double-strand breaks, thereby avoiding large deletions and translocations in the host chromosome. However, its reliance on the protospacer adjacent motif (PAM) can limit its use. We aimed to restore a disease mutation in a patient with severe hemophilia B using base editing with SpCas9-NG, a modified Cas9 with the board PAM flexibility.
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