Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Karin Kojima"'
Autor:
Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F. Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected. ATRX c.21-1G>A is lo
Externí odkaz:
https://doaj.org/article/0e8b6c11d10d4478806d1488eb8610f0
Autor:
Mari Kuwajima, Karin Kojima, Hitoshi Osaka, Yusuke Hamada, Eriko Jimbo, Miyuki Watanabe, Shiho Aoki, Ikuko Sato-Shirai, Keiko Ichimoto, Takuya Fushimi, Kei Murayama, Akira Ohtake, Masakazu Kohda, Yoshihito Kishita, Yukiko Yatsuka, Shumpei Uchino, Masakazu Mimaki, Noriko Miyake, Naomichi Matsumoto, Yasushi Okazaki, Tomomi Ogata, Takanori Yamagata, Kazuhiro Muramatsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100809- (2021)
Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced dystonia. More than 60 patients with this condition have been reported till date.
Externí odkaz:
https://doaj.org/article/ade6758023d041699e4aaf4d74f60a8f
Autor:
Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, Taichi Imaizumi, Toshiyuki Yamamoto, Takanori Yamagata
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract MCT8 deficiency is an X-linked recessive disorder. We report the case of a 2-year-old Japanese boy with MCT8 deficiency caused by a novel frameshift variant, NM_006517.5(SLC16A2_v001):c.966dup [p.(Ile323Hisfs*57)]. He presented no head contr
Externí odkaz:
https://doaj.org/article/4c1fb1e731384fcd93103de761cd91aa
Autor:
Naomichi Matsumoto, Yuko Mishima, Hitoshi Osaka, Tomohiro Sakaguchi, Futoshi Sekiguchi, Noriko Miyake, Karin Kojima, Eriko Nishi, Nobuhiko Okamoto, Yuiko Hasegawa
Publikováno v:
Brain and Development. 43:1023-1028
Background Aromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not synthesized. From a large number of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3f7dba9ba763be2e4187d134a2d93d0
https://doi.org/10.1016/j.braindev.2021.07.002
https://doi.org/10.1016/j.braindev.2021.07.002
Autor:
Karin Kojima, Yukitoshi Takahashi, Ayumi Matsumoto, Kazuhisa Watanabe, Akihiko Miyauchi, Kensuke Kawai, Mitsuhiro Kato, Fuyuki Miya, Takanori Yamagata, Sadahiko Iwamoto
Publikováno v:
Brain and Development. 43:857-862
Background The DYNC1H1 gene encodes the heavy chain of cytoplasmic dynein 1, a core structure of the cytoplasmic dynein complex. Dominant DYNC1H1 mutations are implicated in Charcot–Marie–Tooth disease, axonal, type 20, spinal muscular atrophy, l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3707f8e747338ffc2798204a612099a
https://doi.org/10.1016/j.braindev.2021.05.005
https://doi.org/10.1016/j.braindev.2021.05.005
Autor:
Hironori Shimozawa, Mari Kuwajima, Hirokazu Yamagishi, Masahide Goto, Takahiro Ikeda, Karin Kojima, Kazuhiro Muramatsu, Kei Wakabayashi, Takanori Yamagata, Ayumi Matsumoto, Hitoshi Osaka
Publikováno v:
Journal of the Japan Epilepsy Society. 37:810-818
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58963d69eca2ae0c01e9db13d9cd9703
https://doi.org/10.3805/jjes.37.810
https://doi.org/10.3805/jjes.37.810
Autor:
Hitoshi Osaka, Akihiko Miyauchi, Yoshiyuki Onuki, Tetsuo Kubota, Karin Kojima, Hiroaki Mizukami, Shin-ichi Muramatsu, Kazuyuki Nakamura, Takanori Yamagata, Takeshi Nakajima, Takahiro Ikeda, Sayaka Ono, Naoyuki Taga, Mitsuhiro Kato, Ayumi Matsumoto, Toshihiko Sato
Publikováno v:
Brain
AADC deficiency causes severe motor and intellectual disability as a result of reduced catecholamine levels. Kojima et al. report beneficial effects of gene therapy in six patients with heterogeneous genetic backgrounds. Gene delivery into putamen im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbb4db06452a75af5768528fb7a17aff
http://europepmc.org/articles/PMC6377184
http://europepmc.org/articles/PMC6377184
Autor:
Karin Kojima, Toshiyuki Yamamoto, Takanori Yamagata, Kei Wakabayashi, Taichi Imaizumi, Hitoshi Osaka
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
MCT8 deficiency is an X-linked recessive disorder. We report the case of a 2-year-old Japanese boy with MCT8 deficiency caused by a novel frameshift variant, NM_006517.5(SLC16A2_v001):c.966dup [p.(Ile323Hisfs*57)]. He presented no head control and sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070e03da48c5014bcc1ca8c56e04aaca
https://pubmed.ncbi.nlm.nih.gov/33594047
https://pubmed.ncbi.nlm.nih.gov/33594047
Autor:
John W. Steele, Steven S. Gross, Brittney Lozzi, Karin Kojima, Ronald J. Parchem, Qiuying Chen, Richard H. Finnell, Rachel A. Keuls
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 20
International Journal of Molecular Sciences, Vol 21, Iss 7534, p 7534 (2020)
Volume 21
Issue 20
International Journal of Molecular Sciences, Vol 21, Iss 7534, p 7534 (2020)
Neural tube closure is a critical early step in central nervous system development that requires precise control of metabolism to ensure proper cellular proliferation and differentiation. Dysregulation of glucose metabolism during pregnancy has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f57cfe88bcff60e5e519a0bd8fbe9cda
Autor:
Hirokazu Yamagishi, Hitoshi Osaka, Ayumi Matsumoto, Takanori Yamagata, Karin Kojima, Masako Nagashima, Takahiro Ikeda, Mari Kuwajima, Akihiko Miyauchi
Publikováno v:
Journal of the Japan Epilepsy Society. 35:693-701
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ddb7ebded62c8d0d88c7a231d3e7cc3
https://doi.org/10.3805/jjes.35.693
https://doi.org/10.3805/jjes.35.693