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过度生长综合征:功能失调的PI3激酶信号传导是一种统一机制吗?

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

作者信息

Barker Karen T, Houlston Richard S

机构信息

Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK.

出版信息

Eur J Hum Genet. 2003 Sep;11(9):665-70. doi: 10.1038/sj.ejhg.5201026.

DOI:10.1038/sj.ejhg.5201026
PMID:12939652
Abstract

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.

摘要

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。

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