| The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. | |
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MedLine Citation:
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PMID: 19467855 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of the cell cycle, differentiation, growth and cell senescence, all of which are critical to normal development. It is therefore not surprising that its dysregulation has profound effects on development. A class of developmental syndromes, the 'RASopathies', is caused by germline mutations in genes that encode protein components of the Ras/MAPK pathway. The vast majority of these mutations result in increased signal transduction down the Ras/MAPK pathway, but usually to a lesser extent than somatic mutations associated with oncogenesis. Each syndrome exhibits unique phenotypic features, however, since they all cause dysregulation of the Ras/MAPK pathway, there are numerous overlapping phenotypic features between the syndromes, including characteristic facial features, cardiac defects, cutaneous abnormalities, neurocognitive delay and a predisposition to malignancies. Here we review the clinical and underlying molecular basis for each of these syndromes. |
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Authors:
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William E Tidyman; Katherine A Rauen |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Review Date: 2009-05-19 |
Journal Detail:
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Title: Current opinion in genetics & development Volume: 19 ISSN: 1879-0380 ISO Abbreviation: Curr. Opin. Genet. Dev. Publication Date: 2009 Jun |
Date Detail:
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Created Date: 2009-06-15 Completed Date: 2009-09-25 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 9111375 Medline TA: Curr Opin Genet Dev Country: England |
Other Details:
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Languages: eng Pagination: 230-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA 94115, USA. William.tidyman@ucsf.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Germ-Line Mutation Humans Mitogen-Activated Protein Kinases / genetics, metabolism* Models, Biological Noonan Syndrome / genetics, pathology, physiopathology SOS1 Protein / genetics, metabolism Signal Transduction / genetics, physiology* Syndrome ras Proteins / genetics, metabolism* |
| Grant Support | |
ID/Acronym/Agency:
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HD048502/HD/NICHD NIH HHS; K23 HD048502-05/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/SOS1 Protein; EC 2.7.11.24/Mitogen-Activated Protein Kinases; EC 3.6.5.2/ras Proteins |
| Comments/Corrections | |
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