Document Detail


HRAS and the Costello syndrome.
MedLine Citation:
PMID:  17250658     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies and a predisposition to develop neoplasia, both benign and malignant. CS is caused by activating germline mutations in HRAS and belongs to an exciting class of genetic syndromes that are caused by perturbation of function through the Ras pathway. Some of these other syndromes include Noonan syndrome, LEOPARD syndrome, neurofibromatosis 1 and cardio-facio-cutaneous syndrome. Ras is a critical signaling hub in the cell and is activated by receptor tyrosine kinases, G-protein-coupled receptors, cytokine receptors and extracellular matrix receptors. The downstream effectors of Ras are many and control vital cellular functions including cell cycle progression, cell survival, motility, transcription, translation and membrane trafficking. Understanding the genetic etiology of CS is the first step in gaining insight to the role Ras plays in human development, cellular signaling and cancer pathogenesis.
Authors:
K A Rauen
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review    
Journal Detail:
Title:  Clinical genetics     Volume:  71     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-01-25     Completed Date:  2007-04-11     Revised Date:  2007-12-03    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  101-8     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA 94115, USA. rauen@cc.ucsf.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / etiology,  genetics*,  metabolism
Craniofacial Abnormalities / genetics*
Diagnosis, Differential
Ectodermal Dysplasia / genetics
Failure to Thrive / genetics
Genes, ras
Genotype
Germ-Line Mutation
Humans
Mental Retardation / genetics*
Models, Biological
Neoplasms / genetics
Phenotype
Proto-Oncogene Proteins p21(ras) / genetics*,  metabolism
Signal Transduction
Syndrome
Grant Support
ID/Acronym/Agency:
HD048502/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
EC 3.6.5.2/HRAS protein, human; EC 3.6.5.2/Proto-Oncogene Proteins p21(ras)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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