Notch signaling and inherited disease syndromes

被引：207

作者：

Gridley, T ^{[1
]}

机构：

[1] Jackson Lab, Bar Harbor, ME 04609 USA

来源：

HUMAN MOLECULAR GENETICS | 2003年 / 12卷

关键词：

CONGENITAL HEART-DEFECTS; AUTOSOMAL-DOMINANT ARTERIOPATHY; AXIAL SKELETAL DEFECTS; ALAGILLE-SYNDROME; SEGMENTATION DEFECTS; SUBCORTICAL INFARCTS; SOMITE SEGMENTATION; JAGGED1; MUTATIONS; CADASIL PATIENTS; LUNATIC FRINGE;

D O I：

10.1093/hmg/ddg052

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：

The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in organisms as diverse as insects, nematodes, echinoderms and mammals. Disruptions in conserved developmental pathways frequently result in inherited congenital anomalies in humans. Mutations in genes encoding Notch pathway components underlie three inherited human diseases: Alagille syndrome, spondylocostal dysostosis, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Mouse models for these three diseases have been developed, and are leading to novel insights into the pathology of these diseases in humans.

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收藏

页码：R9 / R13

页数：5

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