Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?

被引：15

作者：

Barker, KT ^{[1
]}

Houlston, RS ^{[1
]}

机构：

[1] Inst Canc Res, Sect Canc Genet, Sutton SM2 5NG, Surrey, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2003年 / 11卷 / 09期

关键词：

overgrowth; PI3-kinase; Cowden syndrome; tuberous sclerosis; Proteus syndrome;

D O I：

10.1038/sj.ejhg.5201026

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：665 / 670

页数：6

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