The multifaceted role of Notch in cardiac development and disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg2279.pdf
Reference108 articles.
1. Bray, S. J. Notch signalling: a simple pathway becomes complex. Nature Rev. Mol. Cell Biol. 7, 678–689 (2006).
2. Li, L. et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for NOTCH1. Nature Genet. 16, 243–251 (1997).
3. Oda, T. et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nature Genet. 16, 235–242 (1997). References 2 and 3 demonstrate that Alagille syndrome is caused by mutations in the human JAG1 gene, providing evidence that mutations in a Notch signalling component could be linked to congenital heart defects.
4. Garg, V. et al. Mutations in NOTCH1 cause aortic valve disease. Nature 437, 270–274 (2005).
5. Joutel, A. et al. NOTCH3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383, 707–710 (1996).
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