Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis

2012 ◽  
Vol 94 (3) ◽  
pp. 176-181 ◽  
Author(s):  
Redouane Allache ◽  
Patrizia De Marco ◽  
Elisa Merello ◽  
Valeria Capra ◽  
Zoha Kibar
Keyword(s):  
Cell Polarity ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Planar Cell Polarity ◽  
Polarity Gene

scholarly journals Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

2015 ◽  
Author(s):  
J. H. Seo ◽  
Y. Zilber ◽  
S. Babayeva ◽  
J. Liu ◽  
P. Kyriakopoulos ◽  
...  
Keyword(s):  
Cell Polarity ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Planar Cell Polarity ◽  
Polarity Gene

scholarly journals Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects

Cells ◽  
2019 ◽  
Vol 8 (10) ◽  
pp. 1198 ◽  
Author(s):  
Wang ◽  
Marco ◽  
Capra ◽  
Kibar
Keyword(s):  
Cell Polarity ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Planar Cell Polarity ◽  
Neural Tube Closure ◽  
Convergent Extension ◽  
Complex Genetics ◽  
Pcp Signaling ◽  
Canonical Wnt

Neural tube defects (NTDs), including spina bifida and anencephaly, represent the most severe and common malformations of the central nervous system affecting 0.7–3 per 1000 live births. They result from the failure of neural tube closure during the first few weeks of pregnancy. They have a complex etiology that implicate a large number of genetic and environmental factors that remain largely undetermined. Extensive studies in vertebrate models have strongly implicated the non-canonical Wnt/planar cell polarity (PCP) signaling pathway in the pathogenesis of NTDs. The defects in this pathway lead to a defective convergent extension that is a major morphogenetic process essential for neural tube elongation and subsequent closure. A large number of genetic studies in human NTDs have demonstrated an important role of PCP signaling in their etiology. However, the relative contribution of this pathway to this complex etiology awaits a better picture of the complete genetic architecture of these defects. The emergence of new genome technologies and bioinformatics pipelines, complemented with the powerful tool of animal models for variant interpretation as well as significant collaborative efforts, will help to dissect the complex genetics of NTDs. The ultimate goal is to develop better preventive and counseling strategies for families affected by these devastating conditions.

scholarly journals Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

2011 ◽  
Vol 20 (22) ◽  
pp. 4324-4333 ◽  
Author(s):  
J. H. Seo ◽  
Y. Zilber ◽  
S. Babayeva ◽  
J. Liu ◽  
P. Kyriakopoulos ◽  
...  
Keyword(s):  
Cell Polarity ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Planar Cell Polarity ◽  
Polarity Gene

Role of the planar cell polarity geneProtein tyrosine kinase 7in neural tube defects in humans

2015 ◽  
Vol 103 (12) ◽  
pp. 1021-1027 ◽  
Author(s):  
Mingqin Wang ◽  
Patrizia De Marco ◽  
Elisa Merello ◽  
Pierre Drapeau ◽  
Valeria Capra ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Cell Polarity ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Planar Cell Polarity

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population

2014 ◽  
Vol 100 (8) ◽  
pp. 633-641 ◽  
Author(s):  
Patrizia De Marco ◽  
Elisa Merello ◽  
Gianluca Piatelli ◽  
Armando Cama ◽  
Zoha Kibar ◽  
...  
Keyword(s):  
Cell Polarity ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Planar Cell Polarity ◽  
Gene Mutations ◽  
Polarity Gene
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