Loss-of-function mutation of c-Ret causes cerebellar hypoplasia in mice with Hirschsprung disease and Down's syndrome

The c-RET proto-oncogene encodes a receptor-tyrosine kinase. Loss-of-function mutations of RET have been shown to be associated with Hirschsprung disease and Down's syndrome (HSCR-DS) in humans. DS is known to involve cerebellar hypoplasia, which is characterized by reduced cerebellar size. Des...

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Detalles Bibliográficos
Autores principales: Ohgami, Nobutaka, Iizuka, Akira, Hirai, Hirokazu, Yajima, Ichiro, Iida, Machiko, Shimada, Atsuyoshi, Tsuzuki, Toyonori, Jijiwa, Mayumi, Asai, Naoya, Takahashi, Masahide, Kato, Masashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7950328/
https://www.ncbi.nlm.nih.gov/pubmed/33561442
http://dx.doi.org/10.1016/j.jbc.2021.100389

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