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

被引:0
|
作者
Karen T Barker
Richard S Houlston
机构
[1] Section of Cancer Genetics,
[2] Institute of Cancer Research,undefined
来源
European Journal of Human Genetics | 2003年 / 11卷
关键词
overgrowth; PI3-kinase; Cowden syndrome; tuberous sclerosis; Proteus syndrome;
D O I
暂无
中图分类号
学科分类号
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
收藏
页码:665 / 670
页数:5
相关论文
共 5 条
  • [1] Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?
    Barker, KT
    Houlston, RS
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (09) : 665 - 670
  • [2] Initiation of neuronal differentiation requires PI3-kinase/TOR signalling in the vertebrate neural tube
    Fishwick, Katherine J.
    Li, Roman A.
    Halley, Pamela
    Deng, Peiyi
    Storey, Kate G.
    DEVELOPMENTAL BIOLOGY, 2010, 338 (02) : 215 - 225
  • [3] Overgrowth syndromes caused by mosaic mutations in the PI3K-AKT signaling pathway
    Spier, Isabel
    Aretz, Stefan
    MEDIZINISCHE GENETIK, 2017, 29 (03): : 306 - 313
  • [4] Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositot 3-Kinase/AKT/Mammatian Target of Rapamycin Pathway
    Akgumus, Gozde
    Chang, Fengqi
    Li, Marilyn M.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2017, 19 (04) : 487 - 497
  • [5] Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes
    Dsouza, Nikita R.
    Cottrell, Catherine E.
    Davies, Olivia M. T.
    Tollefson, Megha M.
    Frieden, Ilona J.
    Basel, Donald
    Urrutia, Raul
    Drolet, Beth A.
    Zimmermann, Michael T.
    LIFE-BASEL, 2024, 14 (03):