Article
The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.
Stem cells and development - 1 May 2011
Hunkapiller Julie, Singla Veena, Seol Allen, Reiter Jeremy F
Abstract excerpt
Oral-Facial-Digital 1 (OFD1) Syndrome is an X-linked developmental disorder caused by mutations in the gene Ofd1. OFD1 syndrome involves malformation of the face, oral cavity, and digits and may be characterized by cystic kidneys and mental retardation. Deletion or missense mutations in Ofd1 also result in loss of primary cilia, a microtubule-based cellular projection that mediates multiple signaling pathways....
Topics
- Animals
- Cell Differentiation
- Cilia
- Disease Models, Animal
- Embryoid Bodies
- Female
- Gene Expression Regulation, Developmental
- Genetic Diseases, X-Linked
- Hedgehog Proteins
- Mice
- Mice, Transgenic