ArticleJournal of molecular neuroscience : MN2013
Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects.
Article in Journal of molecular neuroscience : MN, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 50 citations in OpenAlex.
- Fundamental origins of neural tube defects with a basis in genetics and nutrition.Experimental brain research · 2025Review
- SLMAP3 is essential for neurulation through mechanisms involving cytoskeletal elements, ABP, and PCP.Life science alliance · 2024Article
- Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.Human molecular genetics · 2024Article
- Wnt/planar cell polarity signaling controls morphogenetic movements of gastrulation and neural tube closure.Cellular and molecular life sciences : CMLS · 2022Review
- [Research progress on the etiology and pathogenesis of spina bifida].Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery · 2021Review
- Loss-of-function or gain-of-function variations in VINCULIN (VCL) are risk factors of human neural tube defects.Molecular genetics & genomic medicine · 2021Article
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways.Journal of human genetics · 2020Article
- Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.Human genetics · 2020Article
- Convergent extension in mammalian morphogenesis.Seminars in cell & developmental biology · 2020Review
- Decoding Dishevelled-Mediated Wnt Signaling in Vertebrate Early Development.Frontiers in cell and developmental biology · 2020Review
- 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
- Whole-Exome Sequencing Identifies DamagingFrontiers in neuroscience · 2019Article
- Digenic variants of planar cell polarity genes in human neural tube defect patients.Molecular genetics and metabolism · 2018Article
- Genetic analysis of Wnt/PCP genes in neural tube defects.BMC medical genomics · 2018Article
- A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.Clinical genetics · 2018Article
- MARK2/Par1b Insufficiency Attenuates DVL Gene Transcription via Histone Deacetylation in Lumbosacral Spina Bifida.Molecular neurobiology · 2017Article
- Bimodal regulation of Dishevelled function by Vangl2 during morphogenesis.Human molecular genetics · 2017Article
- Neurodevelopmental Perspectives on Wnt Signaling in Psychiatry.Molecular neuropsychiatry · 2017Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Neural tube defects are severe malformations affecting 1/1,000 live births. The planar cell polarity pathway controls the neural tube closure and has been implicated in the pathogenesis of neural tube defects both in animal models and human cohorts. In mouse disruption of Dvl2 alone (Dvl2 (-/-)) or Dvl2 and Dvl3 (Dvl2 (-/-); Dvl3 (+/-), Dvl2 (+/-); Dvl3 (-/-)) results in incomplete neurulation, suggesting a role for Disheveled in neural tube closure. Disheveled is a multifunctional protein that is involved in both the canonical Wnt signaling and the noncanonical planar cell polarity pathway. In this study, we analyzed the role of the human orthologs DVL2 and DVL3 in a cohort of 473 patients with neural tube defects. Rare variants were genotyped in 639 ethnically matched controls. We identified seven rare missense mutations that were absent in all controls analyzed. Two of these mutations, p.Tyr667Cys and p.Ala53Val, identified in DVL2 were predicted to be detrimental in silico. Significantly, a 1-bp insertion (c.1801_1802insG) in exon 15 of DVL2 predicted to lead to the truncation of the protein was identified in a patient with a complex form of caudal agenesis. In summary, we demonstrate a possible role for rare variants in DVL2 gene as risk factors for neural tube defects.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.