JUNTENDO UNIVERSITY

C22.1: KS1 iPSCs showed lower functional KMT2D expression, H3K4me1/2 levels, and differential gene expression related to KS1 phenotypes. C22.2: Single-cell genomics identified cell-type variation in expression and chromatin, regulatory elements, and eQTLs, facilitating precision medicine for neuropsychiatric disorders. C22.3: XDP-TE in TAF1 gene linked to XDP; ZNF91 establishes H3K9me3 and DNA methylation, crucial for TAF1 regulation. C22.4: MORC2 mutations cause diverse neurological disorders; multi-omics analysis revealed DNA methylation and transcriptome signatures, linking epigenetic silencing to phenotypic manifestation. C22.5: SIRT6 knockdown in Drosophila neurons reduced movement; in neuroblasts, it was lethal, highlighting its role in neurodevelopment. C22.6: Long-read genome sequencing improved diagnostic sensitivity, identified ZFHX3 GGC-repeat expansion as SCA4 cause, and demonstrated abnormal autophagy in affected cells.

PAI-1 4G/5G polymorphism influences COVID-19 severity by affecting fibrinolysis, thrombosis, and inflammation, guiding personalized treatments.