Teruhiko Yoshida

No ORCID on file · 2 papers in corpus

case-report 2025

Clarification of the clinical significance of an intron variant in a case of Peutz-Jeghers syndrome with abnormal RNA splicing of STK11

Molecular cytogenetics ·doi:10.1186/s13039-025-00710-x

Peutz–Jeghers syndrome is an autosomal dominant disease characterized by intestinal polyposis, mucocutaneous pigmentation, and an increased risk of various types of cancer. Germline mutations in STK11 (LKB1), which encodes serine/threonine …

observational 2020

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

Nature genetics ·doi:10.1038/s41588-020-0640-3

The overwhelming majority of participants in current genetic studies are of European ancestry. To elucidate disease biology in the East Asian population, we conducted a genome-wide association study (GWAS) with 212,453 Japanese individuals …