ArticleHuman molecular genetics2019
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Meta-Analysis ofGenes · 2019Pooled it
- The orofacial cleft risk gene IRF6 is a target gene of SOX9 in cranial neural crest cells.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Craniofacial development: genetics, signaling pathways, teratogenic mechanisms, and clinal significance.Molecular biomedicine · 2026Review
- Persistent and Dose-Dependent Neural and Metabolic Gene Expression Changes Induced by Transient Citalopram Exposure in Zebrafish Embryos.International journal of molecular sciences · 2025Article
- Facial Clefts and the Trigeminal Nerve: A Narrative Review of the Literature and Clinical Considerations in the Era of Personalized Medicine.Journal of personalized medicine · 2025Review
- Integrated profiling of metaplastic breast cancer identifies putative master regulators of intratumoral heterogeneity.NPJ breast cancer · 2025Article
- Neural crest and periderm-specific requirements of Irf6 during neural tube and craniofacial development.Developmental biology · 2025Review
- ARHGAP29 promotes keratinocyte proliferation and migration in vitro and is dispensable for in vivo wound healing.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting.Scientific reports · 2024Article
- Article
- Neural crest and periderm-specific requirements ofbioRxiv : the preprint server for biology · 2024Article
- Analysis of candidate genes for cleft lip ± cleft palate using murine single-cell expression data.Frontiers in cell and developmental biology · 2023Article
- TWIST1 interacts with β/δ-catenins during neural tube development and regulates fate transition in cranial neural crest cells.Development (Cambridge, England) · 2022Article
- Article
- To Stick or Not to Stick: Adhesions in Orofacial Clefts.Biology · 2022Review
- The Polycomb group geneFrontiers in neuroscience · 2022Article
- Molecular Pathways Modulating Sensory Hair Cell Regeneration in Adult Mammalian Cochleae: Progress and Perspectives.International journal of molecular sciences · 2021Review
- In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events.Human molecular genetics · 2021Article
- Family based and case-control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese population.Molecular genetics & genomic medicine · 2021Article
- Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population.Clinical oral investigations · 2021Article
Corrections and comments
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Authors and funding
27 authors at 13 institutions in 4 countries.
Funding
Abstract
Mutations in IRF6, TFAP2A and GRHL3 cause orofacial clefting syndromes in humans. However, Tfap2a and Grhl3 are also required for neurulation in mice. Here, we found that homeostasis of Irf6 is also required for development of the neural tube and associated structures. Over-expression of Irf6 caused exencephaly, a rostral neural tube defect, through suppression of Tfap2a and Grhl3 expression. Conversely, loss of Irf6 function caused a curly tail and coincided with a reduction of Tfap2a and Grhl3 expression in tail tissues. To test whether Irf6 function in neurulation was conserved, we sequenced samples obtained from human cases of spina bifida and anencephaly. We found two likely disease-causing variants in two samples from patients with spina bifida. Overall, these data suggest that the Tfap2a-Irf6-Grhl3 genetic pathway is shared by two embryologically distinct morphogenetic events that previously were considered independent during mammalian development. In addition, these data suggest new candidates to delineate the genetic architecture of neural tube defects and new therapeutic targets to prevent this common birth defect.
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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.