ArticleHuman mutation2011
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.
Article in Human mutation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 83 citations in OpenAlex.
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Quantitative live imaging reveals PRICKLE1 controls junctional neural tube morphogenesis independent of Planar Cell Polarity.Nature communications · 2026Article
- Early spinal cord development: from neural tube formation to neurogenesis.Nature reviews. Neuroscience · 2025Review
- Targeting Wnt-driven metabolic adaptations in cancer: integrating glycolysis, glutaminolysis, IDO1-mediated immune evasion, and therapeutic delivery strategies.Frontiers in cell and developmental biology · 2025Review
- The role of prickle proteins in vertebrate development and pathology.Molecular and cellular biochemistry · 2024Review
- An interaction between OTULIN and SCRIB uncovers roles for linear ubiquitination in planar cell polarity.Disease models & mechanisms · 2023Article
- A quest for genetic causes underlying signaling pathways associated with neural tube defects.Frontiers in pediatrics · 2023Review
- Wnt/planar cell polarity signaling controls morphogenetic movements of gastrulation and neural tube closure.Cellular and molecular life sciences : CMLS · 2022Review
- Pathogenesis of neural tube defects: The regulation and disruption of cellular processes underlying neural tube closure.WIREs mechanisms of disease · 2022Review
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- Functional Validation ofFrontiers in neuroscience · 2020Article
- Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.Cells · 2019Review
- Variants identified in PTK7 associated with neural tube defects.Molecular genetics & genomic medicine · 2019Article
- Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.Human genetics · 2019Article
- Vangl2 interaction plays a role in the proteasomal degradation of Prickle2.Scientific reports · 2019Article
- Whole-Exome Sequencing Identifies DamagingFrontiers in neuroscience · 2019Article
- A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.Journal of neurogenetics · 2018Article
- Regulation of spermatid polarity by the actin- and microtubule (MT)-based cytoskeletons.Seminars in cell & developmental biology · 2018Review
- Digenic variants of planar cell polarity genes in human neural tube defect patients.Molecular genetics and metabolism · 2018Article
- Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.Human genetics · 2018Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure, and has been implicated in the pathogenesis of neural tube defects (NTDs) in animal models and human cohorts. In this study, we analyzed the role of one core PCP gene PRICKLE1 in these malformations. We screened this gene in 810 unrelated NTD patients and identified seven rare missense heterozygous mutations that were absent in all controls analyzed and predicted to be functionally deleterious using bioinformatics. Functional validation of five PRICKLE1 variants in a zebrafish model demonstrated that one variant, p.Arg682Cys, antagonized the CE phenotype induced by the wild-type zebrafish prickle1a (zpk1a) in a dominant fashion. Our study demonstrates that PRICKLE1 could act as a predisposing factor to human NTDs and further expands our knowledge of the role of PCP genes in the pathogenesis of these malformations.
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