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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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
Transmembrane topology of mammalian planar cell polarity protein Vangl1.
Iliescu A et al.
Biochemistry, 2011
Human neural tube defects: genetic causes and prevention.
De Marco P et al.
Biofactors (oxford, England), 0
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