September 2016 in “Journal of Dermatological Science” This case report describes the first documented instance of epidermal nevus syndrome caused by a postzygotic KRAS G12C mutation in a three-year-old Japanese girl.
December 2022 in “International Journal of Molecular Sciences” This study used machine learning to identify FDA-approved drugs afatinib, neratinib, and zanubrutinib as potential KRASG12C inhibitors for resistant non-small-cell lung cancer, highlighting the potential of AI in drug repurposing.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” In this study, peptide-based nanoparticles were successfully used to deliver the CRISPR-Cas9 system into cancer cells, effectively targeting and editing KRAS mutations, suggesting promising therapeutic potential for cancer treatment.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.