Barker Karen T, Houlston Richard S
Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK.
Eur J Hum Genet. 2003 Sep;11(9):665-70. doi: 10.1038/sj.ejhg.5201026.
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.
对果蝇和动物模型的研究表明,磷酸肌醇-3-激酶(PI3激酶)轴在正常发育中起核心作用,决定组织中细胞的数量和大小。该信号通路功能失调会导致生长异常,并且已证实其在考登综合征和结节性硬化症的发病机制中起关键作用。这条信号通路功能失调很可能是其他疾病的基础,尤其是那些以不对称过度生长为特征的疾病。