Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Daisuke Ieda, Yutaka Negishi, Tomomi Miyamoto, Yoshikazu Johmura, Natsuko Kumamoto, Kohji Kato, Ichiro Miyoshi, Makoto Nakanishi, Shinya Ugawa, Hisashi Oishi, Shinji Saitoh
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0237814 (2020)
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
Externí odkaz:
https://doaj.org/article/f3848521228e4611b929283e23d91d29
Autor:
Yuji Nakamura, Kohji Kato, Naomi Tsuchida, Naomichi Matsumoto, Yoshiyuki Takahashi, Shinji Saitoh
Publikováno v:
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
Externí odkaz:
https://doaj.org/article/b1151488c60e420d9911aa61c8d53f53
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e75137 (2013)
Mutations in the proliferating cell nuclear antigen (PCNA)-binding domain of the CDKN1C gene were recently identified in patients with IMAGe syndrome. However, loss of PCNA binding and suppression of CDKN1C monoubiquitination by IMAGe-associated muta
Externí odkaz:
https://doaj.org/article/d623d49b8cd5429bb2a861c40c42c3f4