Zobrazeno 1 - 3
of 3
pro vyhledávání: '"CDKN1C mutation"'
Autor:
Ih-Jane Yang, Yi-An Tu, Song-Po Pan, Ting-Chi Huang, Chih-Ling Chen, Ming-Wei Lin, Yi-Yi Tsai, Yi-Lin Yao, Yi-Ning Su, Shee-Uan Chen
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 1, Pp 174-179 (2022)
Objective: Beckwith-Wiedemann syndrome (BWS) is a rare imprinting gene disorder. Maternal CDKN1C mutation comprises 5% of etiologies of BWS. There is no successful report of preventing BWS by preimplantation genetic testing for monogenic disease (PGT
Externí odkaz:
https://doaj.org/article/e24f61e3cf544afca4cf3742c636bb05
Akademický článek
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Autor:
Adriana Borriello, Emanuela Stampone, Debora Bencivenga, Clementina Barone, Fulvio Della Ragione, Marilena Di Finizio
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 7428, p 7428 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 14
International Journal of Molecular Sciences
Volume 22
Issue 14
p57Kip2 protein is a member of the CIP/Kip family, mainly localized in the nucleus where it exerts its Cyclin/CDKs inhibitory function. In addition, the protein plays key roles in embryogenesis, differentiation, and carcinogenesis depending on its ce