Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome.

@article{Yu2014RoleOO,
  title={Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome.},
  author={Yi-Ru Yu and L R You and Yu-Ting Yan and Chun-ming Chen},
  journal={Human molecular genetics},
  year={2014},
  volume={23 21},
  pages={5579-96}
}
OVCA1/DPH1 (OVCA1) encodes a component of the diphthamide biosynthesis pathway and is located on chromosome 17p13.3. Deletions in this region are associated with Miller-Dieker syndrome (MDS). Ovca1/Dph1 (Ovca1)-null mice exhibit multiple developmental defects, including cleft palate, growth restriction and perinatal lethality, suggesting a role in the craniofacial abnormalities associated with MDS. Conditional ablation of Ovca1 in neural crest cells, but not in cranial paraxial mesoderm, also… CONTINUE READING