武内俊樹 (Takenouchi Toshiki) - マイポータル

基本情報

所属: 慶應義塾大学医学部小児科学教室専任講師

学位: 博士（医学）(慶應義塾大学)

研究者番号: 60383741
J-GLOBAL ID: 200901004508027340
researchmap会員ID: 5000105457

研究分野

学歴

1996年4月 - 2002年3月

慶應義塾医学部

委員歴

2014年9月 - 現在

日本小児科学会将来の小児科医を考える委員会
2014年9月 - 現在

日本小児科学会将来の小児科医を考える委員会

受賞

論文

A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin

Toshiki Takenouchi, Hiroyuki Shimada, Tomoko Uehara, Yae Kanai, Takao Takahashi, Kenjiro Kosaki

EUROPEAN JOURNAL OF MEDICAL GENETICS 62(2) 93-95 2019年2月査読有り
Expanding Phenotype of Nephronophthisis-Related Ciliopathy

Kawaguchi Takahisa, Yoshida Tadashi, Hirahashi Junichi, Uehara Tomoko, Takenouchi Toshiki, Kosaki Kenjiro, Itoh Hiroshi, Hayashi Matsuhiko

Nephron 1-5 2018年7月10日査読有り
Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells.

Ritsuko Harigai, Shigeki Sakai, Hiroyuki Nobusue, Chikako Hirose, Oltea Sampetrean, Noriaki Minami, Yukie Hata, Takashi Kasama, Takanori Hirose, Toshiki Takenouchi, Kenjiro Kosaki, Kazuo Kishi, Hideyuki Saya, Yoshimi Arima

Scientific reports 8(1) 6069-6069 2018年4月17日
Growth pattern of Rahman syndrome.

Toshiki Takenouchi, Tomoko Uehara, Kenjiro Kosaki, Seiji Mizuno

American journal of medical genetics. Part A 176(3) 712-714 2018年3月査読有り
Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

Toshiki Takenouchi, Mie Inaba, Tomoko Uehara, Takao Takahashi, Kenjiro Kosaki, Seiji Mizuno

American journal of medical genetics. Part A 176(2) 431-437 2018年2月査読有り
Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut

Keiko Funata, Tatsuhiko Shike, Toshiki Takenouchi, Yukio Yamashita, Takao Takahashi

Brain and Development 40(1) 74-76 2018年1月1日
Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis.

Sakaguchi Y, Uehara T, Suzuki H, Sakamoto Y, Fujiwara M, Kosaki K, Takenouchi T

Am J Med Genet A. 2018年査読有り
Body Temperature, Heart Rate, and Short-Term Outcome of Cooled Infants.

Tsuda K, Iwata S, Mukai T, Shibasaki J, Takeuchi A, Ioroi T, Sano H, Yutaka N, Takahashi A, Takenouchi T, Osaga S, Tokuhisa T, Takashima S, Sobajima H, Tamura M, Hosono S, Nabetani M, Iwata O, Baby Cooling Registry of Japan Collaboration Team

Ther Hypothermia Temp Manag. 2018年査読有り
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.

Sakaguchi A, Yamashita Y, Ishii T, Uehara T, Kosaki K, Takahashi T, Takenouchi T

Eur J Med Genet. 2018年査読有り
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants

Uehara Tomoko, Takenouchi Toshiki, Kosaki Rika, Kurosawa Kenji, Mizuno Seiji, Kosaki Kenjiro

European Journal of Medical Genetics 2018年1月1日
Three patients with DeSanto-Shinawi syndrome

Uehara Tomoko, Ishige Takashi, Hattori Shigeto, Yoshihashi Hiroshi, Funato Michinori, Yamaguchi Yu, Takenouchi Toshiki, Kosaki Kenjiro

American Journal of Medical Genetics, Part A 2018年1月1日査読有り
Truncating mutation in CSNK2B and myoclonic epilepsy

Yuri Sakaguchi, Tomoko Uehara, Hisato Suzuki, Kenjiro Kosaki, Toshiki Takenouchi

HUMAN MUTATION 38(11) 1611-1612 2017年11月
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A

Takashi Enokizono, Tatsuyuki Ohto, Ryuta Tanaka, Mai Tanaka, Hisato Suzuki, Aiko Sakai, Kazuo Imagawa, Hiroko Fukushima, Atsushi Iwabuti, Takashi Fukushima, Ryo Sumazaki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 173(10) 2821-2825 2017年10月
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto-van Silfhout, Pierre-Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch, Katharina Steindl, Eirik Frengen, Doriana Misceo, Christeen Ramane J. Pedurupillay, Petter Stromme, Jill A. Rosenfeld, Yunru Shao, William J. Craigen, Christian P. Schaaf, David Rodriguez-Buritica, Laura Farach, Jennifer Friedman, Perla Thulin, Scott D. McLean, Kimberly M. Nugent, Jenny Morton, Jillian Nicholl, Joris Andrieux, Asbjorg Stray-Pedersen, Pascal Chambon, Sophie Patrier, Sally A. Lynch, Susanne Kjaergaard, Pernille M. Torring, Charlotte Brasch-Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zoe Powis, Han G. Brunner, Rolph Pfundt, Janneke H. M. Schuurs-Hoeijmakers, Bregje W. M. van Bon, Stefan Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E. L. M. Vissers, Jozef Gecz, David A. Koolen, Giuseppe Testa, Bert B. A. de Vries

AMERICAN JOURNAL OF HUMAN GENETICS 100(6) 907-925 2017年6月
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene

Toshiki Takenouchi, Tomoru Miwa, Yoshiaki Sakamoto, Yuri Sakaguchi, Tomoko Uehara, Takao Takahashi, Kenjiro Kosaki

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 173(6) 1631-1634 2017年6月
Cover Image, Volume 173A, Number 5, May 2017

Takenouchi Toshiki, Kuchikata Tomu, Yoshihashi Hiroshi, Fujiwara Mineko, Uehara Tomoko, Miyama Sahoko, Yamada Shiro, Kosaki Kenjiro

American journal of medical genetics. Part A 173(5) i 2017年5月1日
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype

Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, Mineko Fujiwara, Tomoko Uehara, Sahoko Miyama, Shiro Yamada, Kenjiro Kosaki

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 173(5) 1353-1357 2017年5月
Therapeutic hypothermia for neonatal encephalopathy

Tsuda Kennosuke, Mukai Takeo, Iwata Sachiko, Shibasaki Jun, Tokuhisa Takuya, Ioroi Tomoaki, Sano Hiroyuki, Yutaka Nanae, Takahashi Akihito, Takeuchi Akihito, Takenouchi Toshiki, Araki Yuko, Sobajima Hisanori, Tamura Masanori, Hosono Shigeharu, Nabetani Makoto, Iwata Osuke

Scientific Reports 7 2017年1月4日査読有り
Therapeutic hypothermia for neonatal encephalopathy

Tsuda Kennosuke, Mukai Takeo, Iwata Sachiko, Shibasaki Jun, Tokuhisa Takuya, Ioroi Tomoaki, Sano Hiroyuki, Yutaka Nanae, Takahashi Akihito, Takeuchi Akihito, Takenouchi Toshiki, Araki Yuko, Sobajima Hisanori, Tamura Masanori, Hosono Shigeharu, Nabetani Makoto, Iwata Osuke

Scientific Reports 7 2017年1月4日査読有り
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype

Sakaguchi Yuri, Takenouchi Toshiki, Uehara Tomoko, Kishi Kazuo, Takahashi Takao, Kosaki Kenjiro

American Journal of Medical Genetics, Part A 2017年

もっとみる

書籍等出版物

Intraventricular hemorrhage and white matter injury in the preterm infant

Takenouchi Toshiki, Perlman Jeffrey M

2012年

担当経験のある科目(授業)

所属学協会

共同研究・競争的資金等の研究課題

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

文部科学省・日本学術振興会科学研究費助成事業 2019年4月 - 2022年3月

武内俊樹
CDC42遺伝子異常症の病態解明

科学研究費補助金(文部科学省・日本学術振興会） 2016年4月 - 2019年3月

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

2014年4月 - 2016年3月

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

科学研究費補助金(文部科学省・日本学術振興会） 2012年4月 - 2014年3月

武内俊樹