Peripheral blood <i>GATA2</i> expression impacts <i>RNF213</i> mutation penetrance and clinical severity in moyamoya disease
Peripheral blood <i>GATA2</i> expression was associated with increased penetrance of the <i>RNF213</i> mutation and more severe clinical manifestations in MMD.
Authors
- Yuki Oichi (ORCID: https://orcid.org/0000-0002-0225-8158)
- Takahiko Kamata
- Kouji H. Harada
- Noriaki Sato
- Yasushi Okuno (ORCID: https://orcid.org/0000-0003-3596-4208)
- Akio Koizumi (ORCID: https://orcid.org/0000-0002-4827-4014)
- Yoshiki Arakawa (ORCID: https://orcid.org/0000-0003-4626-4645)
- Yohei Mineharu (ORCID: https://orcid.org/0000-0002-6346-3999)
- Takeshi Funaki (ORCID: https://orcid.org/0000-0001-9489-7469)
- Susumu Miyamoto (ORCID: https://orcid.org/0000-0002-3648-3572)
- Yoshinori Tamada (ORCID: https://orcid.org/0000-0003-3483-9712)
- Tetsuaki Kimura (ORCID: https://orcid.org/0000-0002-2010-104X)
- Mei Tomoto
- Ituro Inoue (ORCID: https://orcid.org/0000-0003-1706-8493)
Institutions
- National Institute of Genetics (JP)
- Hirosaki University (JP)
- Kyoto University (JP)
- Ijinkai Takeda General Hospital (JP)
- RIKEN Center for Computational Science (JP)
- Hyogo Prefectural Amagasaki General Medical Center (JP)
- Kyoto University Hospital (JP)
- Kyoto Prefectural Institute of Public Health and Environment (JP)
- National Center for Geriatrics and Gerontology (JP)
- The University of Tokyo (JP)
Publication Details
- Journal
- Stroke and Vascular Neurology
- Published
- 2025-04-23
- DOI
- https://doi.org/10.1136/svn-2024-003970
- Citations
- 2
- Primary Topic
- Moyamoya disease diagnosis and treatment
- Type
- article
- Field-Weighted Citation Impact
- 3.34
Funders
- Japan Agency for Medical Research and Development
- Ministry of Education, Culture, Sports, Science and Technology
- Japan Society for the Promotion of Science