Takenouchi, Toshiki

J-GLOBAL         Last updated: Aug 24, 2019 at 02:55
 
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Name
Takenouchi, Toshiki
Affiliation
Keio University
Section
School of Medicine Department of Pediatrics
Job title
Assistant Professor/Senior Assistant Professor
Degree
博士(医学)(慶應義塾大学)

Research Areas

 
 

Education

 
Apr 1996
 - 
Mar 2002
医学部, Keio University
 

Committee Memberships

 
Sep 2014
 - 
Today
日本小児科学会  将来の小児科医を考える委員会
 

Awards & Honors

 
2016
日本医師会医学研究奨励賞
 
2015
三四会奨励賞
 
2013
森永奉仕会研究奨励金特別賞太田敬三記念賞
 

Published Papers

 
Harigai Ritsuko, Sakai Shigeki, Nobusue Hiroyuki, Hirose Chikako, Sampetrean Oltea, Minami Noriaki, Hata Yukie, Kasama Takashi, Hirose Takanori, Takenouchi Toshiki, Kosaki Kenjiro, Kishi Kazuo, Saya Hideyuki, Arima Yoshimi
Scientific Reports   8(1)    Dec 2018
<p>Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas. NF1 encodes the tumour suppressor protein neurofibromin, which negatively regul...
Kawaguchi Takahisa, Yoshida Tadashi, Hirahashi Junichi, Uehara Tomoko, Takenouchi Toshiki, Kosaki Kenjiro, Itoh Hiroshi, Hayashi Matsuhiko
Nephron   1-5   Jul 2018   [Refereed]
<p>Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal recessive disorders characterized by renal corticomedullary cysts with the extrarenal symptoms. Typically, patients with NPHP-RC reach end-stage kidney disease (ESKD) before the age ...
Takenouchi Toshiki, Uehara Tomoko, Kosaki Kenjiro, Mizuno Seiji
American Journal of Medical Genetics, Part A   176(3) 712-714   Mar 2018   [Refereed]
<p>Recently, in a cohort study with “overgrowth syndrome with intellectual disability,” five subjects were reported to have de novo heterozygous truncating variants in HIST1H1E, which encodes linker histone H 1.4. However, their growth pattern app...
Uehara Tomoko, Ishige Takashi, Hattori Shigeto, Yoshihashi Hiroshi, Funato Michinori, Yamaguchi Yu, Takenouchi Toshiki, Kosaki Kenjiro
American Journal of Medical Genetics, Part A      Jan 2018   [Refereed]
<p>Somatic truncating variants of the WAC gene have been observed in patients with hematologic malignancies. Furthermore, de novo heterozygous constitutional pathogenic variants of WAC have recently been shown to cause a syndromic form of intellec...
Takenouchi Toshiki, Shimada Hiroyuki, Uehara Tomoko, Kanai Yae, Takahashi Takao, Kosaki Kenjiro
European Journal of Medical Genetics      Jan 2018   [Refereed]
<p>Loss-of-function mutations in coagulation cascade proteins lead to bleeding diasthesis. In contrast, gain-of-function mutations in these proteins, which are exceptionally rare, lead to hereditary thrombosis. This is best exemplified by Factor V...

Books etc

 
Intraventricular hemorrhage and white matter injury in the preterm infant
Takenouchi Toshiki, Perlman Jeffrey M.
2012   

Teaching Experience

 
 

Research Grants & Projects

 
PDGFRB異常による新規過成長症候群の病態解明と治療法開発
MEXT,JSPS: Grant-in-Aid for Scientific Research
Project Year: Apr 2019 - Mar 2022    Investigator(s): 武内 俊樹
CDC42遺伝子異常症の病態解明
Grant-in-Aid for Scientific Research
Project Year: Apr 2016 - Mar 2019    Investigator(s): 武内俊樹
新生児低酸素性虚血性脳症に対する低体温療法の至適化のための包括的代謝解析の研究
Project Year: Apr 2014 - Mar 2016    Investigator(s): 武内俊樹
顕微質量分析による新生児低酸素性脳症の代謝システムの制御解明と低体温療法の最適化
Grant-in-Aid for Scientific Research
Project Year: Apr 2012 - Mar 2014    Investigator(s): 武内俊樹