期刊
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
卷 88, 期 8, 页码 633-652出版社
WILEY
DOI: 10.1002/bdra.20686
关键词
neural tube defects; Hedgehog signaling pathway; cilia; exencephaly; spina bifida; intraflagellar transport; neural tube patterning
资金
- Medical Research Council [G120/861, G0801124] Funding Source: researchfish
- Medical Research Council [G120/861, G0801124(87459), G0801124] Funding Source: Medline
- Wellcome Trust [087525] Funding Source: Medline
- MRC [G120/861, G0801124] Funding Source: UKRI
The Hedgehog signaling pathway is essential for many aspects of normal embryonic development, including formation and patterning of the neural tube. Absence of the sonic hedgehog (shh) ligand is associated with the midline defect holoprosencephaly, whereas increased Shh signaling is associated with exencephaly and spina bifida. To complicate this apparently simple relationship, mutation of proteins required for function of cilia often leads to impaired Shh signaling and to disruption of neural tube closure. In this article, we review the literature on Shh pathway mutants and discuss the relationship between Shh signaling, cilia, and neural tube defects. Birth Defects Research (Part A) 88:633-652, 2010. (C) 2010 Wiley-Liss, Inc.
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