T
Toshiki Takenouchi
Researcher at Keio University
Publications - 150
Citations - 1855
Toshiki Takenouchi is an academic researcher from Keio University. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 18, co-authored 127 publications receiving 1335 citations. Previous affiliations of Toshiki Takenouchi include Kurume University & Cornell University.
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Journal ArticleDOI
Hypoxic regulation of the cerebral microcirculation is mediated by a carbon monoxide-sensitive hydrogen sulfide pathway
Takayuki Morikawa,Mayumi Kajimura,Tomomi Nakamura,Takako Hishiki,Tsuyoshi Nakanishi,Tsuyoshi Nakanishi,Yoshinori Yukutake,Yoshiko Nagahata,Mami Ishikawa,Katsuji Hattori,Toshiki Takenouchi,Takao Takahashi,Isao Ishii,Kazuko Matsubara,Yasuaki Kabe,Shinichiro Uchiyama,Eiichiro Nagata,Moataz M. Gadalla,Solomon H. Snyder,Makoto Suematsu +19 more
TL;DR: In intact adult brain cerebral cortex of HO-2–null mice, imaging mass spectrometry reveals an impaired ability to maintain ATP levels on hypoxia, and a pathway mediating Hypoxia-induced cerebral vasodilation is reported.
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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 Strømme,Jill A. Rosenfeld,Yunru Shao,William J. Craigen,Christian P. Schaaf,David Rodriguez-Buritica,Laura S. Farach,Jennifer Friedman,Perla Thulin,Scott D. McLean,Kimberly M. Nugent,Jenny Morton,Jillian Nicholl,Joris Andrieux,Asbjørg Stray-Pedersen,Pascal Chambon,Sophie Patrier,Sally Ann Lynch,Susanne Kjaergaard,Pernille Mathiesen Tørring,Charlotte Brasch-Andersen,Anne Ronan,Arie van Haeringen,Peter J. Anderson,Zöe Powis,Han G. Brunner,Rolph Pfundt,Janneke H M Schuurs-Hoeijmakers,Bregje W.M. van Bon,Stefan H. Lelieveld,Christian Gilissen,Willy M. Nillesen,Lisenka E.L.M. Vissers,Jozef Gecz,David A. Koolen,Giuseppe Testa,Giuseppe Testa,Bert B.A. de Vries +51 more
TL;DR: A clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators is defined, defined as a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations.
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Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.
TL;DR: In this paper, the authors identified a novel overgrowth syndrome arising from a mutation in PDGFRB, which plays a critical role in growth and differentiation, characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, and neurologic deterioration.
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Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.
TL;DR: W Whole exome sequencing revealed a de novo amino acid substitution in CDC42, a critical regulator of the cytoskeleton, and it is suggested that this CDC42 mutation may represent yet another mechanism leading to the combinatory phenotype of persistent macrothrombocytopenia and developmental delay.
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Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype
Toshiki Takenouchi,Mariko Hida,Yoshiaki Sakamoto,Chiharu Torii,Rika Kosaki,Takao Takahashi,Kenjiro Kosaki +6 more
TL;DR: It is proposed that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1, be newly referred to as marfanoids–progeroid syndrome.