Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?
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.
Barker
Karen T
KT
Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK. karenb@icr.ac.uk
Houlston
Richard S
RS
D006130:Growth Disorders / Q000201:enzymology / Q000235:genetics*; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics / Q000378:metabolism; D006801:Humans; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics* / Q000378:metabolism; D016715:Proteus Syndrome / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics / Q000378:metabolism
D019869:Phosphatidylinositol 3-Kinases