Institute of Science Tokyo · Institute for Advanced Studies

Research keywords筋病学・ミトコンドリア・リン脂質・神経内科学・遺伝学

This is a public-data preview. Personalized fit, contact angles, and saved workflows require sign-in.

• Ohori S, Tsuburaya RS, Kinoshita M, Miyagi E, Mizuguchi T, Mitsuhashi S, Frith MC, Matsumoto N. Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. Journal of human genetics. 2021.07; 66 (7): 697-705. ( PubMed , DOI )2021
• Mitsuhashi Satomi, Nakagawa So, Sasaki-Honda Mitsuru, Sakurai Hidetoshi, Frith Martin C., Mitsuhashi Hiroaki. Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells HUMAN MOLECULAR GENETICS. 2021.04; 30 (7): 552-563. ( PubMed , DOI )2021
• Matsuzawa Ayumi, Lee Jiyoung, Nakagawa So, Itoh Johbu, Takahashi Ueda Mahoko, Mitsuhashi Satomi, Kochi Yuta, Kaneko-Ishino Tomoko, Ishino Fumitoshi. HERV-Derived Ervpb1 Is Conserved in Simiiformes, Exhibiting Expression in Hematopoietic Cell Lineages Including Macrophages INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021.05; 22 (9): ( PubMed , DOI )2021
• Frith MC, Mitsuhashi S, Katoh K. lamassemble: Multiple Alignment and Consensus Sequence of Long Reads. Methods in molecular biology (Clifton, N.J.). 2021; 2231 135-145. ( PubMed , DOI )2021

• ナノポアシークエンサーを用いた遺伝性神経疾患の解明
• 細胞融合にかかわる内在性レトロウイルス由来遺伝子の同定および機能解析
• 顔面肩甲上腕型筋ジストロフィーにおける新規エピジェネティック制御因子の探索
• 顔面肩甲上腕型筋ジストロフィー病態に関与する内在性レトロウイルスの探索

• Official profile