Global InformationNaomichi Matsumoto information
Naomichi Matsumoto | |
|---|---|
松本 直通 | |
| Born | August 3, 1961 Saga Prefecture, Japan |
| Nationality | Japanese |
| Alma mater | Nagasaki University Kyushu University |
| Known for | Sotos syndrome Marfan syndrome type II Ohtahara syndrome Coffin–Siris syndrome |
| Scientific career | |
| Fields | Medical genetics |
| Institutions | Yokohama City University University of Chicago Nagasaki University |
| Doctoral advisor | Norio Niikawa |
Naomichi Matsumoto (松本 直通, Matsumoto Naomichi, born August 3, 1961) is a Japanese physician and medical geneticist who identified several causative genes for human diseases, including Sotos syndrome (2002),[1] Marfan syndrome type II (2004),[2] Ohtahara syndrome (2008),[3] West syndrome (2010),[4] Microphthalmia with limb anomalies (2011),[5] Autosomal-recessive cerebellar ataxias (2011),[6] Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC) (2011),[7] Porencephaly (2012),[8] and Coffin–Siris syndrome (2012).[9]
Matsumoto has been the editor-in-chief of the scientific journal Journal of Human Genetics since 2014.[10]
- ^ Kurotaki, N; Imaizumi, K; Harada, N; Masuno, M; Kondoh, T; Nagai, T; Ohashi, H; Naritomi, K; Tsukahara, M; Makita, Y; Sugimoto, T; Sonoda, T; Hasegawa, T; Chinen, Y; Tomita Ha, H. A.; Kinoshita, A; Mizuguchi, T; Yoshiura Ki, K; Ohta, T; Kishino, T; Fukushima, Y; Niikawa, N; Matsumoto, N (2002). "Haploinsufficiency of NSD1 causes Sotos syndrome". Nature Genetics. 30 (4): 365–6. doi:10.1038/ng863. PMID 11896389. S2CID 205357840.
- ^ Mizuguchi, T; Collod-Beroud, G; Akiyama, T; Abifadel, M; Harada, N; Morisaki, T; Allard, D; Varret, M; Claustres, M; Morisaki, H; Ihara, M; Kinoshita, A; Yoshiura, K; Junien, C; Kajii, T; Jondeau, G; Ohta, T; Kishino, T; Furukawa, Y; Nakamura, Y; Niikawa, N; Boileau, C; Matsumoto, N (2004). "Heterozygous TGFBR2 mutations in Marfan syndrome". Nature Genetics. 36 (8): 855–60. doi:10.1038/ng1392. PMC 2230615. PMID 15235604.
- ^ Saitsu, H; Kato, M; Mizuguchi, T; Hamada, K; Osaka, H; Tohyama, J; Uruno, K; Kumada, S; Nishiyama, K; Nishimura, A; Okada, I; Yoshimura, Y; Hirai, S; Kumada, T; Hayasaka, K; Fukuda, A; Ogata, K; Matsumoto, N (2008). "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy". Nature Genetics. 40 (6): 782–8. doi:10.1038/ng.150. PMID 18469812. S2CID 1113528.
- ^ Saitsu, H; Tohyama, J; Kumada, T; Egawa, K; Hamada, K; Okada, I; Mizuguchi, T; Osaka, H; Miyata, R; Furukawa, T; Haginoya, K; Hoshino, H; Goto, T; Hachiya, Y; Yamagata, T; Saitoh, S; Nagai, T; Nishiyama, K; Nishimura, A; Miyake, N; Komada, M; Hayashi, K; Hirai, S; Ogata, K; Kato, M; Fukuda, A; Matsumoto, N (2010). "Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay". The American Journal of Human Genetics. 86 (6): 881–91. doi:10.1016/j.ajhg.2010.04.013. PMC 3032058. PMID 20493457.
- ^ Okada, I; Hamanoue, H; Terada, K; Tohma, T; Megarbane, A; Chouery, E; Abou-Ghoch, J; Jalkh, N; Cogulu, O; Ozkinay, F; Horie, K; Takeda, J; Furuichi, T; Ikegawa, S; Nishiyama, K; Miyatake, S; Nishimura, A; Mizuguchi, T; Niikawa, N; Hirahara, F; Kaname, T; Yoshiura, K; Tsurusaki, Y; Doi, H; Miyake, N; Furukawa, T; Matsumoto, N; Saitsu, H (2011). "SMOC1 is essential for ocular and limb development in humans and mice". The American Journal of Human Genetics. 88 (1): 30–41. doi:10.1016/j.ajhg.2010.11.012. PMC 3014372. PMID 21194678.
- ^ Doi, H; Yoshida, K; Yasuda, T; Fukuda, M; Fukuda, Y; Morita, H; Ikeda, S; Kato, R; Tsurusaki, Y; Miyake, N; Saitsu, H; Sakai, H; Miyatake, S; Shiina, M; Nukina, N; Koyano, S; Tsuji, S; Kuroiwa, Y; Matsumoto, N (2011). "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation". The American Journal of Human Genetics. 89 (2): 320–7. doi:10.1016/j.ajhg.2011.07.012. PMC 3155161. PMID 21835308.
- ^ Saitsu, H; Osaka, H; Sasaki, M; Takanashi, J; Hamada, K; Yamashita, A; Shibayama, H; Shiina, M; Kondo, Y; Nishiyama, K; Tsurusaki, Y; Miyake, N; Doi, H; Ogata, K; Inoue, K; Matsumoto, N (2011). "Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy". The American Journal of Human Genetics. 89 (5): 644–51. doi:10.1016/j.ajhg.2011.10.003. PMC 3213392. PMID 22036171.
- ^ Yoneda, Y.; Haginoya, K.; Arai, H.; Yamaoka, S.; Tsurusaki, Y.; Doi, H.; Miyake, N.; Yokochi, K.; Osaka, H.; Kato, M.; Matsumoto, N.; Saitsu, H. (2012). "De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly". The American Journal of Human Genetics. 90 (1): 86–90. doi:10.1016/j.ajhg.2011.11.016. PMC 3257897. PMID 22209246.
- ^ Tsurusaki, Y; Okamoto, N; Ohashi, H; Kosho, T; Imai, Y; Hibi-Ko, Y; Kaname, T; Naritomi, K; Kawame, H; Wakui, K; Fukushima, Y; Homma, T; Kato, M; Hiraki, Y; Yamagata, T; Yano, S; Mizuno, S; Sakazume, S; Ishii, T; Nagai, T; Shiina, M; Ogata, K; Ohta, T; Niikawa, N; Miyatake, S; Okada, I; Mizuguchi, T; Doi, H; Saitsu, H; et al. (2012). "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome". Nature Genetics. 44 (4): 376–8. doi:10.1038/ng.2219. PMID 22426308. S2CID 205345340.
- ^ Matsumoto, N. (2014). "A message from the new Editor-in-Chief". Journal of Human Genetics 59: 1.