Yoko Aoki
Professor
Department of Medical Genetics
Tohoku University
Japan
Biography
Dr. Yoko Aoki, is a Professor of Medical Genetics, at Tohoku University School of medicine. She is M.D. and Ph.D. Her research themes are Molecular analysis of disorders with dysregulation of signaling pathways Genetic analysis of intractable and rare diseases using massive parallel sequencing Generation of mouse modeling and development of therapeutic approaches to treat genetic disorders Research Keywords for her are signaling pathway, proto-oncogene, intractable and rare disease, Human development, RASopathies.
Research Interest
genetic analysis, massively parallel sequencing, therapeutic approach, mouse modeling, cell culture
Publications
-
Gripp, K. W., Lin, A. E., Stabley, D. L., Nicholson, L., Scott, C. I., Doyle, D., ... & Gonzalezâ€Meneses, A. (2006). HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. American Journal of Medical Genetics Part A, 140(1), 1-7.
-
Nava, C., Hanna, N., Michot, C., Pereira, S., Pouvreau, N., Niihori, T., ... & Pasmant, E. (2007). CFC and Noonan syndromes due to mutations in RAS/MAPK signaling pathway: genotype/phenotype relationships and overlap with Costello syndrome. Journal of medical genetics.
-
Kamada, F., Aoki, Y., Narisawa, A., Abe, Y., Komatsuzaki, S., Kikuchi, A., ... & Owada, Y. (2011). A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. Journal of human genetics, 56(1).
-
Aoki, Y., Niihori, T., Narumi, Y., Kure, S., & Matsubara, Y. (2008). The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Human mutation, 29(8), 992-1006.
-
Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Ohashi, H., Tanaka, Y., ... & Matsubara, Y. (2005). Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nature genetics, 37(10), 1038.
-
Niihori, T., Aoki, Y., Narumi, Y., Neri, G., Cavé, H., Verloes, A., ... & Kavamura, M. I. (2006). Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nature genetics, 38(3), 294.
