Associated Papers
NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature.
Mastromoro G et al.
Diagnostics (basel, Switzerland), 2025
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Derrick CJ et al.
Human Molecular Genetics, 2024
Mutations associated with human neural tube defects display disrupted planar cell polarity in Drosophila.
Humphries AC et al.
Elife, 2020
Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.
Merello E et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2015
Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting.
Iliescu A et al.
Biochemistry, 2014
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.
Juriloff DM et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012
Contribution of VANGL2 mutations to isolated neural tube defects.
Kibar Z et al.
Clinical Genetics, 2011
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