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Kanako Kojima

Research Profile

Chemicals & Drugs

Disorders

Nonketotic Hyperglycinemia

Concepts & Ideas

Molecular Sequence Data

Procedures

Physiology

Mutation

Living Beings

Newborn Infant

Co-author Network

Publications

TOP 3
Masaya Oda; Shigeo Kure; Taku Sugawara; Suguru Yamaguchi; Kanako Kojima; Toshikatsu Shinka; Kenichi Sato; Ayumi Narisawa; Yoko Aoki; Yoichi Matsubara; Tomoya Omae; Kazuo Mizoi; Hiroyuki Kinouchi
Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system.
Fumiaki Kamada; Shigeo Kure; Takayuki Kudo; Yoichi Suzuki; Takeshi Oshima; Akiko Ichinohe; Kanako Kojima; Tetsuya Niihori; Junko Kanno; Yoko Narumi; Ayumi Narisawa; Kumi Kato; Yoko Aoki; Katsuhisa Ikeda; Toshimitsu Kobayashi; Yoichi Matsubara
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
Stanley H Korman; Avihu Boneh; Akiko Ichinohe; Kanako Kojima; Kenichi Sato; Zivanit Ergaz; John Moshe Gomori; Alisa Gutman; Shigeo Kure
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.

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All Publications

2007: Masaya Oda; Shigeo Kure; Taku Sugawara; Suguru Yamaguchi; Kanako Kojima; Toshikatsu Shinka; Kenichi Sato; Ayumi Narisawa; Yoko Aoki; Yoichi Matsubara; Tomoya Omae; Kazuo Mizoi; Hiroyuki Kinouchi
Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system.
Stroke; a journal of cerebral circulation 2007;38(7):2157-64.
2006: Fumiaki Kamada; Shigeo Kure; Takayuki Kudo; Yoichi Suzuki; Takeshi Oshima; Akiko Ichinohe; Kanako Kojima; Tetsuya Niihori; Junko Kanno; Yoko Narumi; Ayumi Narisawa; Kumi Kato; Yoko Aoki; Katsuhisa Ikeda; Toshimitsu Kobayashi; Yoichi Matsubara
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
Journal of human genetics 2006;51(5):455-60.
2004: Stanley H Korman; Avihu Boneh; Akiko Ichinohe; Kanako Kojima; Kenichi Sato; Zivanit Ergaz; John Moshe Gomori; Alisa Gutman; Shigeo Kure
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.
Annals of neurology 2004;56(1):139-43.
2004: Shigeo Kure; Akiko Ichinohe; Kanako Kojima; Kenichi Sato; Zenro Kizaki; Fumio Inoue; Chutaro Yamanaka; Yoichi Matsubara
Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.
The Journal of pediatrics 2004;144(6):827-9.
2004: Akiko Ichinohe; Shigeo Kure; Sumiko Mikawa; Takatoshi Ueki; Kanako Kojima; Kazuko Fujiwara; Kazuie Iinuma; Yoichi Matsubara; Kohji Sato
Glycine cleavage system in neurogenic regions.
The European journal of neuroscience 2004;19(9):2365-70.
2004: Kanako Kojima; Shigeo Kure; Fumiaki Kamada; Kiyotaka Hao; Akiko Ichinohe; Kenichi Sato; Yoko Aoki; Suzuki Yoichi; Mitsuru Kubota; Reiko Horikawa; Akiko Utsumi; Masayoshi Miura; Shinji Ogawa; Masaki Kanazawa; Yoichi Kohno; Mikako Inokuchi; Tomonobu Hasegawa; Kuniaki Narisawa; Yoichi Matsubara
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
Molecular genetics and metabolism 2004;81(4):343-6.
2003: Takayuki Kudo; Shigeo Kure; Katsuhisa Ikeda; An-Ping Xia; Yukio Katori; Masaaki Suzuki; Kanako Kojima; Akiko Ichinohe; Yoichi Suzuki; Yoko Aoki; Toshimitsu Kobayashi; Yoichi Matsubara
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness.
Human molecular genetics 2003;12(9):995-1004.
2002: Shigeo Kure; Kanako Kojima; Akiko Ichinohe; Tomoki Maeda; R Kálmánchey; György Fekete; Suzan Z Berg; Jim Filiano; Yoko Aoki; Yoichi Suzuki; Tatsuro Izumi; Yoichi Matsubara
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
Annals of neurology 2002;52(5):643-6.
2002: Jennifer R Toone; Derek A Applegarth; Shigeo Kure; Marion B Coulter-Mackie; Payam Sazegar; Kanako Kojima; Akiko Ichinohe
Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).
Molecular genetics and metabolism 2002;76(3):243-9.
2001: Y Sakata; Y Owada; Kenichi Sato; Kanako Kojima; K Hisanaga; Toshikatsu Shinka; Yoichi Suzuki; Yoko Aoki; J Satoh; H Kondo; Yoichi Matsubara; Shigeo Kure
Structure and expression of the glycine cleavage system in rat central nervous system.
Brain research. Molecular brain research 2001;94(1-2):119-30.
2001: Shigeo Kure; Kanako Kojima; Takayuki Kudo; Kiyoshi Kanno; Yoko Aoki; Yoichi Suzuki; Toshikatsu Shinka; Y Sakata; Kuniaki Narisawa; Yoichi Matsubara
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.
Journal of human genetics 2001;46(7):378-84.