Molecular and cellular mechanisms underlying neural tube defects in the loop-tail mutant mouse

M Gravel, A Iliescu, C Horth, S Apuzzo, P Gros - Biochemistry, 2010 - ACS Publications
Loop-tail (Lp) mice show a very severe neural tube defect (craniorachischisis) caused by
mutations in the Vangl2 gene (D255E, S464N). Mammalian Vangl1 and Vangl2 are …

Tissue, cellular and sub-cellular localization of the Vangl2 protein during embryonic development: effect of the Lp mutation

E Torban, HJ Wang, AM Patenaude… - Gene Expression …, 2007 - Elsevier
Loop-tail (Lp) mice show a very severe neural tube defect, craniorachischisis, which is
caused by mis-sense mutations in the Vangl2 gene. The membrane protein Vangl2 belongs …

A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene

MC Guyot, CM Bosoi, F Kharfallah… - Developmental …, 2011 - Wiley Online Library
Vangl2 forms part of the planar cell polarity signalling pathway and is the gene defective in
the Looptail (Lp) mouse mutant. Two previously described alleles, Lp and Lpm1Jus …

An expanding role of Vangl proteins in embryonic development

E Torban, A Iliescu, P Gros - Current topics in developmental biology, 2012 - Elsevier
Abstract The mammalian Vangl1 and Vangl2 genes were discovered a decade ago through
their association with neural tube defects, in particular the presence of Vangl2 mutations in …

Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family

E Torban, HJ Wang, N Groulx, P Gros - Journal of Biological Chemistry, 2004 - ASBMB
Mammalian Vangl1 and Vangl2 are highly conserved membrane proteins that have evolved
from a single ancestral protein Strabismus/Van Gogh found in Drosophila. Mutations in the …

[PDF][PDF] Loop-tail phenotype in heterozygous mice and neural tube defects in homozygous mice result from a nonsense mutation in the Vangl2 gene

B Chen, HH Mao, L Chen, FL Zhang, K Li, ZF Xue - Genet Mol Res, 2013 - funpecrp.com.br
N-ethyl-N-nitrosourea (ENU) is a powerful point mutagen that can generate random
mutations. It has been used to generate mouse mutations to produce phenotypic models of …

Epithelial cell polarity genes are required for neural tube closure

K Doudney, P Stanier - … Journal of Medical Genetics Part C …, 2005 - Wiley Online Library
Human neural tube defects (NTD) are a heterogeneous group that exhibit complex
inheritance, making it difficult to identify the underlying cause. Due to the uniform genetic …

[HTML][HTML] VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish

A Reynolds, JR McDearmid, S Lachance… - Mechanisms of …, 2010 - Elsevier
In humans, rare non-synonymous variants in the planar cell polarity gene VANGL1 are
associated with neural tube defects (NTDs). These variants were hypothesized to be …

Loss of membrane targeting of Vangl proteins causes neural tube defects

A Iliescu, M Gravel, C Horth, Z Kibar, P Gros - Biochemistry, 2011 - ACS Publications
In the mouse, the loop− tail mutation (Lp) causes a very severe neural tube defect, which is
caused by mutations in the Vangl2 gene. In mammals, Vangl1 and Vangl2 code for integral …

Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair …

A Iliescu, M Gravel, C Horth, P Gros - Biochemistry, 2014 - ACS Publications
In vertebrates, Vangl proteins play important roles during embryogenesis, including
establishing planar polarity and coordinating convergent extension movements. In mice …