Article
Contribution of VANGL2 mutations to isolated neural tube defects.
Clinical genetics - 1 Jul 2011
Kibar Z, Salem S, Bosoi C M, Pauwels E, De Marco P, Merello E, Bassuk A G, Capra V, Gros P
Abstract excerpt
Vangl2 was identified as the gene defective in the Looptail (Lp) mouse model for neural tube defects (NTDs). This gene forms part of the planar cell polarity (PCP) pathway, also called the non-canonical Frizzled/Dishevelled pathway, which mediates the morphogenetic process of convergent extension essential for proper gastrulation and neural tube formation in vertebrates. Genetic defects in PCP signaling have...
Topics
- Amino Acid Sequence
- Female
- Genetic Predisposition to Disease
- Humans
- Intracellular Signaling Peptides and Proteins
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Neural Tube Defects