Stops along the RAS pathway in human genetic disease (original) (raw)
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- Published: 01 March 2006
Nature Medicine volume 12, pages 283–285 (2006)Cite this article
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Mutations in components of the RAS-MAPK pathway provide a unifying mechanism for several phenotypically overlapping, yet clinically distinct human 'neuro-cardio-facial-cutaneous' (NCFC) syndromes. These rare diseases may provide new insights into the regulation of this pathway and its role in various cancers.
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Figure 1: Molecular basis of the neuro-cardio-facial-cutaneous (NCFC) syndromes.
Katie Ris
References
- Cichowski, K. & Jacks, T. Cell 104, 593–604 (2001).
Article CAS Google Scholar - Tartaglia, M. & Gelb, B.D. Annu. Rev. Genomics Hum. Genet. 6, 45–68 (2005).
Article CAS Google Scholar - Aoki, Y. et al. Nat. Genet. 37, 1038–1040 (2005).
Article CAS Google Scholar - Rodriguez-Viciana, P. et al. Science published online 26 January 2006 (10.1126/science.1124642).
- Niihori, T. et al. Nat. Genet. 38, 294–296 (2006).
Article CAS Google Scholar - Schubbert, S. et al. Nat. Genet. 38, 331–336 (2006).
Article CAS Google Scholar - Kolch, W. Nat. Rev. Mol. Cell. Biol. 6, 827–837 (2005).
Article CAS Google Scholar - Keilhack, H., David, F.S., McGregor, M., Cantley, L.C. & Neel, B.G. J. Biol. Chem. 280, 30984–30993 (2005).
Article CAS Google Scholar - Wan, P. T. et al. Cell 116, 855–867 (2004).
Article CAS Google Scholar - Garnett, M. J., Rana, S., Paterson, H., Barford, D. & Marais, R. Mol. Cell 20, 963–969 (2005).
Article CAS Google Scholar - Kontaridis, M.I., Swanson, K.D., David, F.S., Barford, D. & Neel, B.G. J. Biol. Chem. published online 25 December 2005 (10.1074/jbc.M513068200).
- Araki, T. et al. Nat. Med. 10, 849–857 (2004).
Article CAS Google Scholar - Mor, A. & Philips, M.R. Annu. Rev. Immunol. published online 16 January 2006 (10.1146/annurev.immunol.24.021605.090723).
- Inoki, K., Corradetti, M.N. & Guan, K.L. Nat. Genet. 37, 19–24 (2005).
Article CAS Google Scholar - Sebolt-Leopold, J.S. & Herrera, R. Nat. Rev. Cancer 4, 937–947 (2004).
Article CAS Google Scholar - Solit, D.B. et al. Nature 439, 358–362 (2006).
Article CAS Google Scholar
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Authors and Affiliations
- Division of Hematology/Oncology, Department of Medicine, Cancer Biology Program, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, 02115, Massachusetts, USA
Mohamed Bentires-Alj, Maria I Kontaridis & Benjamin G Neel - Laboratory of Medical Chemistry and Human Genetics, Center for Biomedical Integrative Genoproteomics, University of Liège, Domaine du Sart-Tilman, 4000, Liège, Belgium
Mohamed Bentires-Alj, Maria I Kontaridis & Benjamin G Neel
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- Mohamed Bentires-Alj
You can also search for this author inPubMed Google Scholar - Maria I Kontaridis
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Bentires-Alj, M., Kontaridis, M. & Neel, B. Stops along the RAS pathway in human genetic disease.Nat Med 12, 283–285 (2006). https://doi.org/10.1038/nm0306-283
- Issue Date: 01 March 2006
- DOI: https://doi.org/10.1038/nm0306-283