Published papers
Academic conference presentation
Research grants & projects
Research areas
Academic society memberships
Academic & professional experience
    （Last updated : 2024-03-27 16:27:38）
  東　剣虹
   Department   Research Institutes and Facilities, Research Institutes and Facilities  Institute for Comprehensive Medical Sciences
   Position   Assistant Professor
■ Published papers
1. Original article　 Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease 2023/09/01
2. Original article　 A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2 2023/04/13
3. Case report　 Dystonic Tremor in Adult-onset DYT-KMT2B: A Case Report. 2022/01/13 Link
4. Case report　 Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases. 2020/10
5. Original article　 Predisposed genomic instability in pre-treatment bone marrow evolves to therapy-related myeloid neoplasms in malignant lymphoma. 2020/07
Display all(19)
■ Academic conference presentation
1. Whole exome sequencing for clinically suspected MODY in Japanese  2020/11/18
■ Research grants & projects
1. 2020/04～2022/03  Population analysis of mutation frequencies and trends of DYT gene groups in dystonia cases.  (Key Word : )
2. 2017/04～2019/03  Elucidation of the role of chromatin regulation by small RNAs in drug resistance in hematopoietic tumors.  (Key Word : )
■ Research areas
Dystonia, Molecular biology 
■ Academic society memberships
1. 2019/11～ The Japan Society of Human Genetics Link
■ Academic & professional experience
1. 2018/04～ Tokyo women's medical university Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS) Assistant Professor