Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.

@article{Humphreys2012CranialNC,
  title={Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.},
  author={Ryan Humphreys and Wei Zheng and Lawrence S. Prince and Xianghu Qu and Christopher L. Brown and Kathleen Loomes and Stacey S. Huppert and Scott Baldwin and Steven L. Goudy},
  journal={Human molecular genetics},
  year={2012},
  volume={21 6},
  pages={1374-83}
}
JAGGED1 mutations cause Alagille syndrome, comprising a constellation of clinical findings, including biliary, cardiac and craniofacial anomalies. Jagged1, a ligand in the Notch signaling pathway, has been extensively studied during biliary and cardiac development. However, the role of JAGGED1 during craniofacial development is poorly understood. Patients with Alagille syndrome have midface hypoplasia giving them a characteristic 'inverted V' facial appearance. This study design determines the… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 1 time. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 21 extracted citations

The developmental biology of genetic Notch disorders.

Development • 2017
View 4 Excerpts
Highly Influenced

Molecular Analysis of Gli3, Ihh, Rab23, and Jag1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association • 2018
View 2 Excerpts

Inhibition of Notch Signaling During Mouse Incisor Renewal Leads to Enamel Defects.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research • 2016

References

Publications referenced by this paper.
Showing 1-10 of 32 references

Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development.

Proceedings of the National Academy of Sciences of the United States of America • 2008

Similar Papers

Loading similar papers…