Rchr
J-GLOBAL ID:200901087749568654   Update date: Dec. 13, 2019

SAITSU Hirotomo

サイツ ヒロトモ | SAITSU Hirotomo
Affiliation and department:
Homepage URL  (1): https://www.hama-med.ac.jp/education/fac-med/dept/biochemistry/index.html
Research field  (2): Pathological medical chemistry ,  Human genetics
Research keywords  (3): human genetics ,  birth defect ,  development
Research theme for competitive and other funds  (1):
  • 2007 - Identification of genes responsible for intractable epilepsy
Papers (256):
  • Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. European journal of medical genetics. 2019. 103804
  • Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions. Journal of human genetics. 2019
  • Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F. Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. Neurobiology of disease. 2019. 130. 104516
  • Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T. IGF2 Mutations: Report of Five Cases, Review of the Literature, and Comparison with H19/IGF2:IG-DMR Epimutations. The Journal of clinical endocrinology and metabolism. 2019
  • Okano S, Shimada S, Tanaka R, Okayama A, Kajihama A, Suzuki N, Nakau K, Takahashi S, Matsumoto N, Saitsu H, Tanboon J, Nishino I, Azuma H. Life-threatening muscle complications of COL4A1-related disorder. Brain & development. 2019
more...
MISC (11):
Books (1):
  • Jasper's Basic Mechanisms of the Epilepsies
    Oxford University Press 2012
Lectures and oral presentations  (33):
  • 動物モデルを用いた葉酸の神経管欠損症予防メカニズムの検討
    (第43回日本先天異常学会学術集会 2003)
  • 二分脊椎の発生に関する胎生病理学的研究:ヒト胚における後部神経管発生過程とその異常
    (第47回日本先天異常学会学術集会 2007)
  • 発生生物学からみたDysmorphology~形態形成と遺伝子発現調節~
    (第49回日本先天異常学会学術集会 2009)
  • Analysis of congenital anomalies by using microarray
    (The 20th Fukuoka International Synposium on Pediatric/Maternal-Child Health Research 2009)
  • 新規CNV探索によるてんかん原因遺伝子の同定
    (第18回精神行動遺伝医学会 2010)
more...
Education (1):
  • - 1998 Kyushu University Faculty of Medicine
Work history (1):
  • 2010/04 - 2015/12 Yokohama City University Graduate School of Medicine Associate Professor
Awards (1):
  • 2007 - Young investigator awards of The Japanese Teratology Society
Association Membership(s) (2):
THE JAPANESE BIOCHEMICAL SOCIETY ,  THE MOLECULAR BIOLOGY SOCIETY OF JAPAN
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