Ryota Souzaki

Learn More
Aberrant methylation at imprinted differentially methylated regions (DMRs) in human 11p15.5 has been reported in many tumors including hepatoblastoma. However, the methylation status of imprinted DMRs in imprinted loci scattered through the human genome has not been analyzed yet in any tumors. The methylation statuses of 33 imprinted DMRs were analyzed in(More)
Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in childhood. Here we studied 60 RMSs using whole-exome/-transcriptome sequencing, copy number (CN) and DNA methylome analyses to unravel the genetic/epigenetic basis of RMS. On the basis of methylation patterns, RMS is clustered into four distinct subtypes, which exhibits remarkable correlation(More)
In neuroblastoma (NB), one of the most common paediatric solid tumours, activation of anaplastic lymphoma kinase (ALK) is often associated with poor outcomes. Although genetic studies have identified copy number alteration and nonsynonymous mutations of ALK, the regulatory mechanism of ALK signalling at protein levels is largely elusive. Neuronal(More)
PURPOSE This study aimed to identify detailed differences in laparoscopic surgical processes between expert and novice surgeons in a training environment and demonstrate that surgical process modeling can be used for such detailed analysis. METHODS Eleven expert surgeons each of whom had performed [Formula: see text] laparoscopic procedures were compared(More)
PURPOSE We developed and evaluated a visual compensation system that allows surgeons to visualize obscured regions in real time, such that the surgical instrument appears virtually transparent. METHODS The system consists of two endoscopes: a main endoscope to observe the surgical environment, and a supporting endoscope to render the region hidden from(More)
2q37 deletion syndrome is a rare congenital disorder that is characterized by facial dysmorphism, obesity, vascular and skeletal malformations, and a variable degree of intellectual disability. To date, common but variable phenotypes, such as skeletal or digit malformations and obesity, have been associated with the deleted size or affected genes at(More)
  • 1