ArticleNature communications2023
Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene-environment interaction.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Craniofacial development: genetics, signaling pathways, teratogenic mechanisms, and clinal significance.Molecular biomedicine · 2026Review
- A Novel Loss-of-Function Variant inGenes · 2026Article
- Ectodermal loss of ARHGAP29 alters epithelial morphology and disrupts murine palatogenesis.Development (Cambridge, England) · 2026Article
- Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk.Human genomics · 2026Article
- The oral maternal microbiome plays a role in the development of cleft lip and palate condition in children.PeerJ · 2026Article
- Transversal Double-Level Mandibular Distraction by Basal Bone Hinge Anchorage and Dentoalveolar Acrylic Plate for a Curved Distraction: Evolution of the Technique in a Double-Jaw Distraction Case Report.Case reports in dentistry · 2026Article
- Review
- Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.Genes · 2025Article
- Sirt6 loss activates Got1 and facilitates cleft palate through abnormal activating glycolysis.Cell death & disease · 2025Article
- NSAID-mediated cyclooxygenase inhibition disrupts ectodermal derivative formation in axolotl embryos.bioRxiv : the preprint server for biology · 2025Article
- Piezo2 interacts with E-cadherin in specialized gastrointestinal epithelial mechanoreceptors.The Journal of general physiology · 2024Article
- Polarity and migration of cranial and cardiac neural crest cells: underlying molecular mechanisms and disease implications.Frontiers in cell and developmental biology · 2024Review
- NSAID-mediated cyclooxygenase inhibition disrupts ectodermal derivative formation in axolotl embryos.Differentiation; research in biological diversityArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
Gene-environment interactions are believed to play a role in multifactorial phenotypes, although poorly described mechanistically. Cleft lip/palate (CLP), the most common craniofacial malformation, has been associated with both genetic and environmental factors, with little gene-environment interaction experimentally demonstrated. Here, we study CLP families harbouring CDH1/E-Cadherin variants with incomplete penetrance and we explore the association of pro-inflammatory conditions to CLP. By studying neural crest (NC) from mouse, Xenopus and humans, we show that CLP can be explained by a 2-hit model, where NC migration is impaired by a combination of genetic (CDH1 loss-of-function) and environmental (pro-inflammatory activation) factors, leading to CLP. Finally, using in vivo targeted methylation assays, we demonstrate that CDH1 hypermethylation is the major target of the pro-inflammatory response, and a direct regulator of E-cadherin levels and NC migration. These results unveil a gene-environment interaction during craniofacial development and provide a 2-hit mechanism to explain cleft lip/palate aetiology.
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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.