| Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism? | |
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MedLine Citation:
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PMID: 12939652 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Studies in drosophila and animal models have shown that the phosphoinositide-3-kinase (PI3-kinase) axis plays a central role in normal development, defining the number and size of cells in tissues. Dysfunction of this pathway leads to growth anomalies and has been established to play a key role in the pathogenesis of Cowden syndrome and tuberous sclerosis. It is probable that dysfunction of this pathway is the basis of other disorders especially those typified by asymmetric overgrowth. |
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Authors:
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Karen T Barker; Richard S Houlston |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 11 ISSN: 1018-4813 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2003 Sep |
Date Detail:
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Created Date: 2003-08-26 Completed Date: 2004-06-17 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 665-70 Citation Subset: IM |
Affiliation:
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Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK. karenb@icr.ac.uk |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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1-Phosphatidylinositol 3-Kinase
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genetics*,
metabolism Growth Disorders / enzymology, genetics* Hamartoma Syndrome, Multiple / genetics, metabolism Humans Proteus Syndrome / genetics, metabolism Signal Transduction / genetics* Tuberous Sclerosis / genetics, metabolism |
| Chemical | |
Reg. No./Substance:
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EC 2.7.1.137/1-Phosphatidylinositol 3-Kinase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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