AB115. Prenatal diagnosis for severe cases of targets in expanded newborn screening

Por Yamaguchi, Seiji, Hasegawa, Yuki, Yamada, Kenji, Bo, Ryosuke, Kobayashi, Hironori, Taketani, Takeshi
Publicado no Ann Transl Med (2017)

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

Por Bo, Ryosuke, Hasegawa, Yuki, Yamada, Kenji, Kobayashi, Hironori, Taketani, Takeshi, Fukuda, Seiji, Yamaguchi, Seiji
Publicado no Mol Genet Metab Rep (2015)

Diffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: a case report with molecular study

Por Ishikawa, Noriyoshi, Amano, Chika, Taketani, Takeshi, Kumori, Koji, Harada, Yuji, Hiraiwa, Hisayuki, Itamura, Kayoko, Maruyama, Riruke
Publicado no Diagn Pathol (2015)

A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth

Por Yamada, Kenji, Bo, Ryosuke, Kobayashi, Hironori, Hasegawa, Yuki, Ago, Mako, Fukuda, Seiji, Yamaguchi, Seiji, Taketani, Takeshi
Publicado no Mol Genet Metab Rep (2017)

Survivin Selectively Modulates Genes Deregulated in Human Leukemia Stem Cells

Por Fukuda, Seiji, Abe, Mariko, Onishi, Chie, Taketani, Takeshi, Purevsuren, Jamiyan, Yamaguchi, Seiji, Conway, Edward M., Pelus, Louis M.
Publicado em 2011

Internal Tandem Duplication in FLT3 Attenuates Proliferation and Regulates Resistance to the FLT3 Inhibitor AC220 by Modulating p21(Cdkn1a) and Pbx1 in Hematopoietic Cells

Por Abe, Mariko, Pelus, Louis M., Singh, Pratibha, Hirade, Tomohiro, Onishi, Chie, Purevsuren, Jamiyan, Taketani, Takeshi, Yamaguchi, Seiji, Fukuda, Seiji
Publicado no PLoS One (2016)

Internal Tandem Duplication Mutations in FLT3 Gene Augment Chemotaxis to Cxcl12 Protein by Blocking the Down-regulation of the Rho-associated Kinase via the Cxcl12/Cxcr4 Signaling...

Por Onish, Chie, Mori-Kimachi, Satomi, Hirade, Tomohiro, Abe, Mariko, Taketani, Takeshi, Suzumiya, Junji, Sugimoto, Toshitsugu, Yamaguchi, Seiji, Kapur, Reuben, Fukuda, Seiji
Publicado no J Biol Chem (2014)

Internal tandem duplication mutations in FLT3 gene augment chemotaxis to Cxcl12 protein by blocking the down-regulation of Rho-associated kinase via the Cxcl12/Cxcr4 signaling axis...

Por Onishi, Chie, Mori-Kimachi, Satomi, Hirade, Tomohiro, Abe, Mariko, Taketani, Takeshi, Suzumiya, Junji, Sugimoto, Toshitsugu, Yamaguchi, Seiji, Kapur, Reuben, Fukuda, Seiji
Publicado no J Biol Chem (2015)

A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy

Por Wada, Keisuke, Kobayashi, Hironori, Moriyama, Aisa, Haneda, Yasuhiro, Mushimoto, Yuichi, Hasegawa, Yuki, Onigata, Kazumichi, Kumori, Koji, Ishikawa, Noriyoshi, Maruyama, Riruke, Sogo, Tsuyoshi, Murphy, Lynne, Taketani, Takeshi
Publicado no Clin Pediatr Endocrinol (2017)

Genomic analysis–integrated whole-exome sequencing of neuroblastomas identifies genetic mutations in axon guidance pathway

Por Li, Yuanyuan, Ohira, Miki, Zhou, Yong, Xiong, Teng, Luo, Wen, Yang, Chao, Li, Xiangchun, Gao, Zhibo, Zhou, Rui, Nakamura, Yohko, Kamijo, Takehiko, Kaneko, Yasuhiko, Taketani, Takeshi, Ueyama, Junichi, Tajiri, Tatsuro, Zhang, Hongyan, Wang, Jian, Yang, Huanming, Yin, Ye, Nakagawara, Akira
Publicado no Oncotarget (2017)

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn...

Por Shibata, Naoaki, Hasegawa, Yuki, Yamada, Kenji, Kobayashi, Hironori, Purevsuren, Jamiyan, Yang, Yanling, Dung, Vu Chi, Khanh, Nguyen Ngoc, Verma, Ishwar C., Bijarnia-Mahay, Sunita, Lee, Dong Hwan, Niu, Dau-Ming, Hoffmann, Georg F., Shigematsu, Yosuke, Fukao, Toshiyuki, Fukuda, Seiji, Taketani, Takeshi, Yamaguchi, Seiji
Publicado no Mol Genet Metab Rep (2018)