The relationship between sonic Hedgehog signaling, cilia, and neural tube defects.
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TLDR
The literature on Shh pathway mutants is reviewed and the relationship between Shh signaling, cilia, and neural tube defects is discussed, including formation and patterning of the neural tube.Abstract:
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.read more
Citations
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The Continuing Challenge of Understanding, Preventing, and Treating Neural Tube Defects
TL;DR: The process of neural tube development and how defects in this process lead to NTDs are reviewed and it is suggested that discovering the genetic risk factors for these serious birth defects could provide ways to prevent and treat neural tube defects.
Journal ArticleDOI
Neural tube defects.
TL;DR: Mechanisms underlying neural tube closure and NTDs may be informed by experimental models, which have revealed numerous genes whose abnormal function causes N TDs and have provided details of critical cellular and morphological events whose regulation is essential for closure.
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Motile and non-motile cilia in human pathology: from function to phenotypes.
TL;DR: The diverse functions of cilia in human health and disease are reviewed and a growing shift away from the classical clinical definitions of ciliopathy syndromes to a more functional categorization is discussed.
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Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia
TL;DR: Given the lack of consensus in the field, new data on the control of ciliary protein localization is used as a basis for proposing new models by which cell type-specific regulation of cilia components via differential transport, regulated entry and exit, or diffusion barriers might generate context-dependent functions for cilia.
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Planar cell polarity and the developmental control of cell behavior in vertebrate embryos.
TL;DR: This review attempts to synthesize what is known about PCP and the PCP proteins in vertebrate animals, with a particular focus on the mechanisms by which individual cells respond to PCP cues in order to execute specific cellular behaviors.
References
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Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.
Chin Chiang,Ying Litingtung,Eric Lee,Keith E. Young,Jeffrey L Corden,Heiner Westphal,Philip A. Beachy +6 more
TL;DR: Targeted gene disruption in the mouse shows that the Sonic hedgehog(Shh) gene plays a critical role in patterning of vertebrate embryonic tissues, including the brain and spinal cord, the axial skeleton and the limbs.
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Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity
Yann Echelard,Douglas J. Epstein,Benoit St-Jacques,Liya Shen,Jym Mohler,Jill A. McMahon,Andrew P. McMahon +6 more
TL;DR: Three members of a mouse gene family related to the Drosophila segment polarity gene, hedgehog (hh), are identified and it is suggested that Shh may play a role in the normal inductive interactions that pattern the ventral CNS.
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Altered Neural Cell Fates and Medulloblastoma in Mouse patched Mutants
TL;DR: The PATCHED (PTC) gene encodes a Sonic hedgehog (Shh) receptor and a tumor suppressor protein that is defective in basal cell nevus syndrome (BCNS).
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Vertebrate Smoothened functions at the primary cilium
Kevin C. Corbit,Pia Aanstad,Veena Singla,Andrew R. Norman,Didier Y.R. Stainier,Jeremy F. Reiter +5 more
TL;DR: It is shown that mammalian Smoothened (Smo), a seven-transmembrane protein essential for Hh signalling, is expressed on the primary cilium, and Hh-dependent translocation to cilia is essential for Smo activity, suggesting that Smo acts at thePrimary cilia.
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Patched1 Regulates Hedgehog Signaling at the Primary Cilium
TL;DR: The role of primary cilia in regulation of Patched1 (Ptc1), the receptor for Sonic Hedgehog (Shh), is investigated and it is found that Ptc1 localized to cilia and inhibited Smoothened (Smo) by preventing its accumulation within cilia.