Stops along the RAS pathway in human genetic disease (original) (raw)

Nature Medicine volume 12, pages 283–285 (2006)Cite this article

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

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Authors and Affiliations

  1. 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
  2. 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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  1. Mohamed Bentires-Alj
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  2. Maria I Kontaridis
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  3. Benjamin G Neel
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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

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