Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Natsumi Kobayashi"'
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Autor:
Ayumi Matsumoto, Shintaro Kano, Natsumi Kobayashi, Mitsuru Matsuki, Rieko Furukawa, Hirokazu Yamagishi, Hiroki Yoshinari, Waka Nakata, Hiroko Wakabayashi, Hidetoshi Tsuda, Kazuhisa Watanabe, Hironori Takahashi, Takanori Yamagata, Takayoshi Matsumura, Hitoshi Osaka, Harushi Mori, Sadahiko Iwamoto
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low
Externí odkaz:
https://doaj.org/article/1d36231f86614acb8ca5b90f72cc25d5
Autor:
Mio KOBAYASHI, Keisuke TAKESUE, Tetsuhito KIGATA, Natsumi KOBAYASHI, Susumu IWAIDE, Tomoaki MURAKAMI, Hayato HARIMA, Akiko YAMAZAKI, Daigo AZAKAMI, Makoto SHIBUTANI, Toshinori YOSHIDA
Publikováno v:
Journal of Veterinary Medical Science; 2024, Vol. 86 Issue 8, p906-910, 5p
Autor:
MASOUD, Niki SEDGHI, Susumu IWAIDE, Natsumi KOBAYASHI, Daisuke NAKAGAWA, Miyuki ORITO, Nobuaki IWAHASHI, Tomoaki MURAKAMI
Publikováno v:
Journal of Veterinary Medical Science; 2024, Vol. 86 Issue 6, p619-622, 4p
Autor:
Niki SEDGHI MASOUD, Susumu IWAIDE, Natsumi KOBAYASHI, Daisuke NAKAGAWA, Miyuki ORITO, Nobuaki IWAHASHI, Tomoaki MURAKAMI
Publikováno v:
Journal of Veterinary Medical Science; 2024, Vol. 86 Issue 5, p619-622, 4p
Publikováno v:
Experimental Animals. 72:218-223
Publikováno v:
International Microbiology.
The serine–arginine protein kinase-like protein, SrpkF, was identified as a regulator for the cellulose-responsive induction of cellulase genes in Aspergillus aculeatus. To analyze various aspects of SrpkF function, we examined the growth of the co
Publikováno v:
Experimental animals.
Amyloid A (AA) amyloidosis is experimentally transmissible in some animal species, such as mice and chickens. While the spleen is important as the initial deposition site in the transmission of AA amyloidosis, it is not essential for establishing the
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND AND AIMS Due to COVID-19 and the aging of the Japanese population, it is becoming increasingly difficult for patients to travel to medical facilities. Although the utilization rate of communication networks and devices for the elderly is l
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND AND AIMS The number of patients requiring home dialysis in Japan is increasing due to COVID-19 and the aging of the population. Home haemodialysis has been performed in Japan since the 1960s. However, as of March 2019, there were 720 home
Autor:
Natsumi Kobayashi, Shin-Ichi Kawamoto
Publikováno v:
2021 IEEE 10th Global Conference on Consumer Electronics (GCCE).