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
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.
Szoszkiewicz A et al.
Orphanet Journal of Rare Diseases, 2024
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
Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2.
El-Hassan AR et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2018
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
Contribution of VANGL2 mutations to isolated neural tube defects.
Kibar Z et al.
Clinical Genetics, 2011
Transmembrane topology of mammalian planar cell polarity protein Vangl1.
Iliescu A et al.
Biochemistry, 2011
VANGL2 mutations in human cranial neural-tube defects.
Lei YP et al.
The New England Journal of Medicine, 2010
Human neural tube defects: genetic causes and prevention.
De Marco P et al.
Biofactors (oxford, England), 0
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