ArticleClinical genetics2011
Contribution of VANGL2 mutations to isolated neural tube defects.
Article in Clinical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
68 citing papers in PubMed, 132 citations in OpenAlex.
- Article
- Article
- Fold-and-fuse neurulation in zebrafish requires vangl2.Developmental biology · 2025Article
- Human organoids potentially boost research into environmental factors of neural tube defects.Reproductive toxicology (Elmsford, N.Y.) · 2025Review
- Early spinal cord development: from neural tube formation to neurogenesis.Nature reviews. Neuroscience · 2025Review
- Structural basis of human VANGL-PRICKLE interaction.Nature communications · 2025Article
- Cryo-EM structure and oligomerization of the human planar cell polarity core protein Vangl1.Nature communications · 2025Article
- The immunology of systemic lupus erythematosus.Nature immunology · 2024Review
- Core planar cell polarity genesProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.Human molecular genetics · 2024Article
- Genetic and molecular mechanisms of hydrocephalus.Frontiers in molecular neuroscience · 2024Review
- An interaction between OTULIN and SCRIB uncovers roles for linear ubiquitination in planar cell polarity.Disease models & mechanisms · 2023Article
- The loop-tail mouse model displays open and closed caudal neural tube defects.Disease models & mechanisms · 2023Article
- CIC missense variants contribute to susceptibility for spina bifida.Human mutation · 2022Article
- Wnt/planar cell polarity signaling controls morphogenetic movements of gastrulation and neural tube closure.Cellular and molecular life sciences : CMLS · 2022Review
- Article
- Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.American journal of medical genetics. Part A · 2022Article
- WNT signaling at the intersection between neurogenesis and brain tumorigenesis.Frontiers in molecular neuroscience · 2022Review
- Vangl2 Promotes Hematopoietic Stem Cell Expansion.Frontiers in cell and developmental biology · 2022Article
- Deletions inCell reports. Medicine · 2021Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
Vangl2 was identified as the gene defective in the Looptail (Lp) mouse model for neural tube defects (NTDs). This gene forms part of the planar cell polarity (PCP) pathway, also called the non-canonical Frizzled/Dishevelled pathway, which mediates the morphogenetic process of convergent extension essential for proper gastrulation and neural tube formation in vertebrates. Genetic defects in PCP signaling have strongly been associated with NTDs in mouse models. To assess the role of VANGL2 in the complex etiology of NTDs in humans, we resequenced this gene in a large multi-ethnic cohort of 673 familial and sporadic NTD patients, including 453 open spina bifida and 202 closed spinal NTD cases. Six novel rare missense mutations were identified in seven patients, five of which were affected with closed spinal NTDs. This suggests that VANGL2 mutations may predispose to NTDs in approximately 2.5% of closed spinal NTDs (5 in 202), at a frequency that is significantly different from that of 0.4% (2 in 453) detected in open spina bifida patients (p = 0.027). Our findings strongly implicate VANGL2 in the genetic causation of spinal NTDs in a subset of patients and provide additional evidence for a pathogenic role of PCP signaling in these malformations.
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Registered trials
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.