Notch and disease: A growing field

被引：178

作者：

Louvi, Angeliki ^{[1
,2
]}

Artavanis-Tsakonas, Spyros ^{[3
,4
]}

机构：

[1] Yale Univ, Sch Med, Dept Neurosurg, Program Neurogenet, New Haven, CT 06520 USA

[2] Yale Univ, Sch Med, Dept Neurobiol, Program Neurogenet, New Haven, CT USA

[3] Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA USA

[4] Coll France, F-75231 Paris, France

来源：

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY | 2012年 / 23卷 / 04期

关键词：

Notch; Pleiotropy; Dominant syndrome; CADASIL; AUTOSOMAL-DOMINANT ARTERIOPATHY; CAUSES SPONDYLOCOSTAL DYSOSTOSIS; HAJDU-CHENEY-SYNDROME; ABNORMAL VERTEBRAL SEGMENTATION; POLYCYSTIC KIDNEY SYNDROME; OF-FUNCTION MUTATIONS; SMOOTH-MUSCLE-CELLS; ALAGILLE-SYNDROME; SUBCORTICAL INFARCTS; SIGNALING PATHWAY;

D O I：

10.1016/j.semcdb.2012.02.005

中图分类号：

Q2 [细胞生物学];

学科分类号：

071013 [干细胞生物学];

摘要：

Signals through the Notch receptors are used throughout development to control cellular fate choices. Our intention here is to provide an overview of the involvement of Notch signaling in human disease, which, keeping pace with the known biology of the pathway, manifests itself in a pleiotropic fashion. A pathway with such broad action in normal development, a profound involvement in the biology of adult stem cells and intricate and complex controls governing its activity, poses numerous challenges. We provide an overview of Notch related pathologies identified thus far and emphasize aspects that have been modeled in experimental systems in order to understand the underlying pathobiology and, hopefully, help the definition of rational therapeutic avenues. (C) 2012 Published by Elsevier Ltd.

引用

页码：473 / 480

页数：8

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