Kazuhiro R. Nitta

This study validates variants of uncertain significance in ECHS1 using functional assays and multi-omics analysis, identifying new pathogenic variants and cases of mitochondrial disease.

The paper functionally annotates human long non-coding RNAs by systematically knocking down 285 lncRNAs and analyzing molecular phenotypes using CAGE sequencing.

The paper investigates how transcription factors interact with nucleosomal DNA, finding that most have less access to it than free DNA and that nucleosome structure affects motif positioning and orientation.

The paper shows that spacer sequences between transcription factor binding motifs influence enhancer activity and that randomizing these spacers can awaken dormant genomic clusters of TFBM.