PIK3CA-related overgrowth spectrum: animal model and drug discovery

被引：5
|
作者：
Venot, Quitterie [1 ,2 ]
Canaud, Guillaume [1 ,2 ,3 ,4 ]
机构：
[1] Inst Necker Enfants Malad, INSERM, U1151, Paris, France
[2] Univ Paris, Paris, France
[3] Hop Necker Enfants Malad, AP HP, Unite Hypercroissance Dysharmonieuse, Paris, France
[4] Hop Necker Enfants Malad, AP HR, Serv Nephrol Transplantat Adultes, Paris, France
来源：
COMPTES RENDUS BIOLOGIES | 2021年 / 344卷 / 02期
关键词：
PIK3CA; Animal model; Clinical trial; PIK3CA-related overgrowth spectrum; Mosaicism; PIK3CA(H1047R) MUTATION; DIAGNOSIS; PIK3CA; EXPRESSION;
D O I：
10.5802/crbiol.50
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
This review recapitulates the recent knowledge accumulation on overgrowth syndrome related to gain of function of the phosphoinositide3 kinase (PI3K)-alpha. These disorders, known as PIK3CA related overgrowth syndromes (PROS) are caused by somatic PIK3CA mutation occurring during embryogenesis. We summarize here the currently available animal models and new treatments undergoing development.
引用
收藏
页码：189 / 201
页数：13
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