ArticleBirth defects research. Part A, Clinical and molecular teratology2013
Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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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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Who cites it
9 citing papers in PubMed.
- The dynamics of tubulogenesis in development and disease.Development (Cambridge, England) · 2025Review
- The transcriptomic landscape of caudal cell mass in different developmental stages of the chick embryo.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Article
- Early anteroposterior regionalisation of human neural crest is shaped by a pro-mesodermal factor.eLife · 2022Article
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.Human molecular genetics · 2019Article
- Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons.Clinical epigenetics · 2019Article
- Genetic epidemiology of neural tube defects.Journal of pediatric rehabilitation medicine · 2017Review
- β-catenin regulates Pax3 and Cdx2 for caudal neural tube closure and elongation.Development (Cambridge, England) · 2014Article
- Molecular Basis of Spina Bifida: Recent Advances and Future Prospectives.Journal of pediatric neurosciencesArticle
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Authors and funding
12 authors.
Funding
Abstract
backgroundBased on studies in animals and humans, PAX3 and T (brachyury) are candidate genes for spina bifida. However, neither gene has been definitively identified as a risk factor for this condition.
methodsSanger sequencing was used to identify variants in all PAX3 and T exons and promoter regions in 114 spina bifida cases. For known variants, allele frequencies in cases were compared with those from public databases using unadjusted odds ratios. Novel variants were genotyped in parents and assessed for predicted functional impact.
resultsWe identified common variants in PAX3 (n = 2) and T (n = 3) for which the allele frequencies in cases were significantly different from those reported in at least one public database. We also identified novel variants in both PAX3 (n = 11) and T (n = 1) in spina bifida cases. Several of the novel PAX3 variants are predicted to be highly conserved and/or impact gene function or expression.
conclusionThese studies provide some evidence that common variants of PAX3 and T are associated with spina bifida. Rare and novel variants in these genes were also identified in affected individuals. However, additional studies will be required to determine whether these variants influence the risk of spina bifida.
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