Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kohji Kato"'
Autor:
Tadashi Kaname, Ken Inoue, Keiko Yamamoto-Shimojima, Kohji Kato, Hideki Muramatsu, Toshiyuki Yamamoto, Taichi Imaizumi, Yusuke Okuno, Yusuke Aoki
Publikováno v:
Journal of Human Genetics. 64:665-671
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosom
Autor:
Kenichi Mishima, Tadashi Nagata, Hiroshi Kitoh, Yasunari Kamiya, Tomoo Ogi, Masaki Matsushita, Naoki Ishiguro, Kohji Kato, Miho Toyama
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Background Achondroplasia (ACH), the most common form of short‐limbed skeletal dysplasia, is caused by gain‐of‐function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. More than 97% of patients result from a heterozygous p.G3
Autor:
Daisuke Ieda, Tomomi Miyamoto, Makoto Nakanishi, Yutaka Negishi, Kohji Kato, Shinya Ugawa, Hisashi Oishi, Natsuko Kumamoto, Shinji Saitoh, Ichiro Miyoshi, Yoshikazu Johmura
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0237814 (2020)
PLoS ONE
PLoS ONE
Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternal allele of MAGEL2, located in the Prader-Willi critical region, 15q11-q13. Although the phenotypes of SYS overlap those of Prader-Willi syndrome
Autor:
Yuji Nakamura, Naomi Tsuchida, Yoshiyuki Takahashi, Shinji Saitoh, Kohji Kato, Naomichi Matsumoto
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)
There have been increasing number of reports of SZT2-related neurological diseases, the main symptoms of which are epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. SZT2 functions as a regulator of mechanistic target of ra