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
The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.
Cheng C et al.
Molecular Genetics & Genomic Medicine, 2021
Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.
Tian T et al.
Human Genetics, 2020
Mutations associated with human neural tube defects display disrupted planar cell polarity in Drosophila.
Humphries AC et al.
Elife, 2020
Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.
Wang M et al.
Cells, 2019
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
John SE et al.
Scientific Reports, 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
Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.
De Marco P et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 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
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.
Bartsch O et al.
Molecular Syndromology, 2012
Transmembrane topology of mammalian planar cell polarity protein Vangl1.
Iliescu A et al.
Biochemistry, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Molecular and cellular mechanisms underlying neural tube defects in the loop-tail mutant mouse.
Gravel M et al.
Biochemistry, 2010
Novel mutations in VANGL1 in neural tube defects.
Kibar Z et al.
Human Mutation, 2009
[Recent perspectives on the development of the central nervous system and the genetic background of neural tube defects].
Joó JG
Orvosi Hetilap, 2009
Syndromes, disorders and maternal risk factors associated with neural tube defects (VI).
Chen CP
Taiwanese Journal of Obstetrics & Gynecology, 2008
Genetic interaction between members of the Vangl family causes neural tube defects in mice.
Torban E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Mutations in VANGL1 associated with neural-tube defects.
Kibar Z et al.
The New England Journal of Medicine, 2007
VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.
Reynolds A et al.
Mechanisms of Development, 0