ReviewDevelopmental dynamics : an official publication of the American Association of Anatomists2016
Toward an orofacial gene regulatory network.
Review in Developmental dynamics : an official publication of the American Association of Anatomists, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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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
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- Tooth agenesis and orofacial clefting: genetic brothers in arms?Human genetics · 2016Pooled it
- Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.Experimental dermatology · 2026Article
- The developmental bases of cleft lip and cleft palate: cellular and molecular mechanisms.Anatomy & cell biology · 2025Review
- Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting.Scientific reports · 2024Article
- A novel noncanonical function for IRF6 in the recycling of E-cadherin.Molecular biology of the cell · 2024Article
- Biophysical and functional characterization of N-terminal domain of Human Interferon Regulatory Factor 6.Molecular biology reports · 2024Article
- Epithelial-mesenchymal crosstalk: the scriptwriter of craniofacial morphogenesis.Frontiers in cell and developmental biology · 2024Review
- Identification of copy neutral loss of heterozygosity on chromosomes 1p, 1q, and 6p among nonsyndromic cleft lip and/or without cleft palate with hypodontia.BMC oral health · 2023Article
- SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics.Biochemical Society transactions · 2023Article
- GRHL2 and AP2a coordinate early surface ectoderm lineage commitment during development.iScience · 2023Article
- Analysis of candidate genes for cleft lip ± cleft palate using murine single-cell expression data.Frontiers in cell and developmental biology · 2023Article
- Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.Italian journal of pediatrics · 2022Article
- Allele-specific transcription factor binding in a cellular model of orofacial clefting.Scientific reports · 2022Article
- Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.International journal of molecular sciences · 2022Review
- Editorial: Cellular Mechanisms During Normal and Abnormal Craniofacial Development.Frontiers in cell and developmental biology · 2022Article
- Mouse models in palate development and orofacial cleft research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis.Current topics in developmental biology · 2022Article
- Isolation and Time-Lapse Imaging of Primary Mouse Embryonic Palatal Mesenchyme Cells to Analyze Collective Movement Attributes.Journal of visualized experiments : JoVE · 2021Article
- A Living Cell Repository of the Cranio-/Orofacial Region to Advance Research and Promote Personalized Medicine.Frontiers in cell and developmental biology · 2021Article
- AnDevelopment (Cambridge, England) · 2020Article
- SPECC1L regulates palate development downstream of IRF6.Human molecular genetics · 2020Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate genes have been discovered through synergy of animal models and human genetics. Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births). Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births). Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude syndrome. In addition, a common variant (rs642961) in the IRF6 locus is found in 30% of the world's population and contributes risk for isolated orofacial clefting. Biochemical studies revealed that rs642961 abrogates one of four AP-2alpha binding sites. Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-facial syndrome). The literature suggests that AP-2alpha, IRF6 and GRHL3 are part of a pathway that is essential for lip and palate development. In addition to updating the pathways, players and pursuits, this review will highlight some of the current questions in the study of orofacial clefting.
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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.