| 词条 | Naomichi Matsumoto |
| 释义 |
| name = Naomichi Matsumoto | native_name = 松本 直通 | native_name_lang = ja | image = | image_size = | alt = | caption = | birth_date = {{Birth date and age|1961|08|03}} | birth_place = Saga Prefecture, Japan | death_date = | death_place = | residence = | citizenship = | nationality = Japanese | fields = Medical genetics | workplaces = Yokohama City University University of Chicago Nagasaki University | alma_mater = Nagasaki University Kyushu University | doctoral_advisor = Norio Niikawa | known_for = Sotos syndrome Marfan syndrome type II Ohtahara syndrome Coffin-Siris syndrome | author_abbrev_bot = | author_abbrev_zoo = | influences = | influenced = | awards = | signature = | signature_alt = | footnotes = | spouse = }}{{Nihongo|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] BiographyMatsumoto was born in Saga Prefecture, Japan, and completed his M.D. in 1986 from Kyushu University School of Medicine.[11] After residency in obstetrics and gynecology at Kyushu University Hospital, he worked as an obstetrician and gynecologist for several years.[11] Wishing to pursue advanced study in medical genetics, he went to Nagasaki University to study as a graduate student under Norio Niikawa, who discovered Kabuki syndrome. He obtained his doctorate in genetics in 1997 from the same institution, before becoming a postdoctoral fellow at the University of Chicago.[11] He was appointed Professor and Chairman of the Department of Human Genetics at Yokohama City University School of Medicine in 2003. References1. ^{{Cite journal | pmid = 11896389| year = 2002| author1 = Kurotaki| first1 = N| title = Haploinsufficiency of NSD1 causes Sotos syndrome| journal = Nature Genetics| volume = 30| issue = 4| pages = 365–6| last2 = Imaizumi| first2 = K| last3 = Harada| first3 = N| last4 = Masuno| first4 = M| last5 = Kondoh| first5 = T| last6 = Nagai| first6 = T| last7 = Ohashi| first7 = H| last8 = Naritomi| first8 = K| last9 = Tsukahara| first9 = M| last10 = Makita| first10 = Y| last11 = Sugimoto| first11 = T| last12 = Sonoda| first12 = T| last13 = Hasegawa| first13 = T| last14 = Chinen| first14 = Y| last15 = Tomita Ha| first15 = H. A.| last16 = Kinoshita| first16 = A| last17 = Mizuguchi| first17 = T| last18 = Yoshiura Ki| first18 = K| last19 = Ohta| first19 = T| last20 = Kishino| first20 = T| last21 = Fukushima| first21 = Y| last22 = Niikawa| first22 = N| last23 = Matsumoto| first23 = N| doi = 10.1038/ng863}} {{Authority control}}{{DEFAULTSORT:Matsumoto, Naomichi}}2. ^{{Cite journal | pmid = 15235604| year = 2004| author1 = Mizuguchi| first1 = T| title = Heterozygous TGFBR2 mutations in Marfan syndrome| journal = Nature Genetics| volume = 36| issue = 8| pages = 855–60| last2 = Collod-Beroud| first2 = G| last3 = Akiyama| first3 = T| last4 = Abifadel| first4 = M| last5 = Harada| first5 = N| last6 = Morisaki| first6 = T| last7 = Allard| first7 = D| last8 = Varret| first8 = M| last9 = Claustres| first9 = M| last10 = Morisaki| first10 = H| last11 = Ihara| first11 = M| last12 = Kinoshita| first12 = A| last13 = Yoshiura| first13 = K| last14 = Junien| first14 = C| last15 = Kajii| first15 = T| last16 = Jondeau| first16 = G| last17 = Ohta| first17 = T| last18 = Kishino| first18 = T| last19 = Furukawa| first19 = Y| last20 = Nakamura| first20 = Y| last21 = Niikawa| first21 = N| last22 = Boileau| first22 = C| last23 = Matsumoto| first23 = N| doi = 10.1038/ng1392| pmc = 2230615}} 3. ^{{Cite journal | pmid = 18469812| year = 2008| author1 = Saitsu| first1 = H| title = De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy| journal = Nature Genetics| volume = 40| issue = 6| pages = 782–8| last2 = Kato| first2 = M| last3 = Mizuguchi| first3 = T| last4 = Hamada| first4 = K| last5 = Osaka| first5 = H| last6 = Tohyama| first6 = J| last7 = Uruno| first7 = K| last8 = Kumada| first8 = S| last9 = Nishiyama| first9 = K| last10 = Nishimura| first10 = A| last11 = Okada| first11 = I| last12 = Yoshimura| first12 = Y| last13 = Hirai| first13 = S| last14 = Kumada| first14 = T| last15 = Hayasaka| first15 = K| last16 = Fukuda| first16 = A| last17 = Ogata| first17 = K| last18 = Matsumoto| first18 = N| doi = 10.1038/ng.150}} 4. ^{{Cite journal | pmid = 20493457| year = 2010| author1 = Saitsu| first1 = H| title = Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay| journal = The American Journal of Human Genetics| volume = 86| issue = 6| pages = 881–91| last2 = Tohyama| first2 = J| last3 = Kumada| first3 = T| last4 = Egawa| first4 = K| last5 = Hamada| first5 = K| last6 = Okada| first6 = I| last7 = Mizuguchi| first7 = T| last8 = Osaka| first8 = H| last9 = Miyata| first9 = R| last10 = Furukawa| first10 = T| last11 = Haginoya| first11 = K| last12 = Hoshino| first12 = H| last13 = Goto| first13 = T| last14 = Hachiya| first14 = Y| last15 = Yamagata| first15 = T| last16 = Saitoh| first16 = S| last17 = Nagai| first17 = T| last18 = Nishiyama| first18 = K| last19 = Nishimura| first19 = A| last20 = Miyake| first20 = N| last21 = Komada| first21 = M| last22 = Hayashi| first22 = K| last23 = Hirai| first23 = S| last24 = Ogata| first24 = K| last25 = Kato| first25 = M| last26 = Fukuda| first26 = A| last27 = Matsumoto| first27 = N| doi = 10.1016/j.ajhg.2010.04.013| pmc = 3032058}} 5. ^{{Cite journal | pmid = 21194678| year = 2011| author1 = Okada| first1 = I| title = SMOC1 is essential for ocular and limb development in humans and mice| journal = The American Journal of Human Genetics| volume = 88| issue = 1| pages = 30–41| last2 = Hamanoue| first2 = H| last3 = Terada| first3 = K| last4 = Tohma| first4 = T| last5 = Megarbane| first5 = A| last6 = Chouery| first6 = E| last7 = Abou-Ghoch| first7 = J| last8 = Jalkh| first8 = N| last9 = Cogulu| first9 = O| last10 = Ozkinay| first10 = F| last11 = Horie| first11 = K| last12 = Takeda| first12 = J| last13 = Furuichi| first13 = T| last14 = Ikegawa| first14 = S| last15 = Nishiyama| first15 = K| last16 = Miyatake| first16 = S| last17 = Nishimura| first17 = A| last18 = Mizuguchi| first18 = T| last19 = Niikawa| first19 = N| last20 = Hirahara| first20 = F| last21 = Kaname| first21 = T| last22 = Yoshiura| first22 = K| last23 = Tsurusaki| first23 = Y| last24 = Doi| first24 = H| last25 = Miyake| first25 = N| last26 = Furukawa| first26 = T| last27 = Matsumoto| first27 = N| last28 = Saitsu| first28 = H| doi = 10.1016/j.ajhg.2010.11.012| pmc = 3014372}} 6. ^{{Cite journal | pmid = 21835308| year = 2011| author1 = Doi| first1 = H| title = Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation| journal = The American Journal of Human Genetics| volume = 89| issue = 2| pages = 320–7| last2 = Yoshida| first2 = K| last3 = Yasuda| first3 = T| last4 = Fukuda| first4 = M| last5 = Fukuda| first5 = Y| last6 = Morita| first6 = H| last7 = Ikeda| first7 = S| last8 = Kato| first8 = R| last9 = Tsurusaki| first9 = Y| last10 = Miyake| first10 = N| last11 = Saitsu| first11 = H| last12 = Sakai| first12 = H| last13 = Miyatake| first13 = S| last14 = Shiina| first14 = M| last15 = Nukina| first15 = N| last16 = Koyano| first16 = S| last17 = Tsuji| first17 = S| last18 = Kuroiwa| first18 = Y| last19 = Matsumoto| first19 = N| doi = 10.1016/j.ajhg.2011.07.012| pmc = 3155161}} 7. ^{{Cite journal | pmid = 22036171| year = 2011| author1 = Saitsu| first1 = H| title = Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy| journal = The American Journal of Human Genetics| volume = 89| issue = 5| pages = 644–51| last2 = Osaka| first2 = H| last3 = Sasaki| first3 = M| last4 = Takanashi| first4 = J| last5 = Hamada| first5 = K| last6 = Yamashita| first6 = A| last7 = Shibayama| first7 = H| last8 = Shiina| first8 = M| last9 = Kondo| first9 = Y| last10 = Nishiyama| first10 = K| last11 = Tsurusaki| first11 = Y| last12 = Miyake| first12 = N| last13 = Doi| first13 = H| last14 = Ogata| first14 = K| last15 = Inoue| first15 = K| last16 = Matsumoto| first16 = N| doi = 10.1016/j.ajhg.2011.10.003| pmc = 3213392}} 8. ^{{Cite journal | doi = 10.1016/j.ajhg.2011.11.016| title = De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly| journal = The American Journal of Human Genetics| volume = 90| pages = 86| year = 2012| last1 = Yoneda | first1 = Y. | last2 = Haginoya | first2 = K. | last3 = Arai | first3 = H. | last4 = Yamaoka | first4 = S. | last5 = Tsurusaki | first5 = Y. | last6 = Doi | first6 = H. | last7 = Miyake | first7 = N. | last8 = Yokochi | first8 = K. | last9 = Osaka | first9 = H. | last10 = Kato | first10 = M. | last11 = Matsumoto | first11 = N. | last12 = Saitsu | first12 = H. }} 9. ^{{Cite journal | pmid = 22426308| year = 2012| author1 = Tsurusaki| first1 = Y| title = Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome| journal = Nature Genetics| volume = 44| issue = 4| pages = 376–8| last2 = Okamoto| first2 = N| last3 = Ohashi| first3 = H| last4 = Kosho| first4 = T| last5 = Imai| first5 = Y| last6 = Hibi-Ko| first6 = Y| last7 = Kaname| first7 = T| last8 = Naritomi| first8 = K| last9 = Kawame| first9 = H| last10 = Wakui| first10 = K| last11 = Fukushima| first11 = Y| last12 = Homma| first12 = T| last13 = Kato| first13 = M| last14 = Hiraki| first14 = Y| last15 = Yamagata| first15 = T| last16 = Yano| first16 = S| last17 = Mizuno| first17 = S| last18 = Sakazume| first18 = S| last19 = Ishii| first19 = T| last20 = Nagai| first20 = T| last21 = Shiina| first21 = M| last22 = Ogata| first22 = K| last23 = Ohta| first23 = T| last24 = Niikawa| first24 = N| last25 = Miyatake| first25 = S| last26 = Okada| first26 = I| last27 = Mizuguchi| first27 = T| last28 = Doi| first28 = H| last29 = Saitsu| first29 = H| last30 = Miyake| first30 = N| display-authors = 29| doi = 10.1038/ng.2219}} 10. ^Matsumoto, N. (2014). "A message from the new Editor-in-Chief". Journal of Human Genetics 59: 1. 11. ^1 2 CV at 10th INternational Workshop on Advanced Genomics 8 : Japanese scientists|Japanese gynaecologists|Japanese geneticists|Living people|1961 births|People from Saga Prefecture|Yokohama City University faculty|Kyushu University alumni |
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