Article
VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.
Mechanisms of development - 1 Jan 2000
Reynolds Annie, McDearmid Jonathan R, Lachance Stephanie, De Marco Patrizia, Merello Elisa, Capra Valeria, Gros Philippe, Drapeau Pierre, Kibar Zoha
Abstract excerpt
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 pathogenic based mainly on genetic studies in a large cohort of NTD patients. In this study, we validate the potential pathogenic effect of these mutations in vivo by investigating their effect on convergent extension in zebrafish. Knocking down the...
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