ArticleScience (New York, N.Y.)2013
Fine tuning of craniofacial morphology by distant-acting enhancers.
Article in Science (New York, N.Y.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers, 4 of them syntheses that pooled it.
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Who cites it
143 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.Human genetics · 2017Pooled it
- Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.Human molecular genetics · 2017Pooled it
- Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta-analysis.Birth defects research. Part A, Clinical and molecular teratology · 2016Pooled it
- Pooled it
- Genetic and Molecular Basis of Cleft Lip and Palate: A Comprehensive Review.Diagnostics (Basel, Switzerland) · 2026Review
- Polycomb chromatin topology enables long-range enhancer recruitment during craniofacial development.Nature communications · 2026Article
- TGF‑β1 in obstructive sleep apnea: linking intermittent hypoxia, upper‑airway remodeling, and systemic comorbidities.Sleep & breathing = Schlaf & Atmung · 2026Review
- Cis-regulatory evolution shapes facial diversity in birds and mammals.Science advances · 2026Article
- Physiologic variation in sperm miRNAs tune embryonic gene regulatory programs and developmental outcomes.bioRxiv : the preprint server for biology · 2026Article
- Article
- Conserved noncoding cis elements associated with hibernation modulate metabolic and behavioral adaptations in mice.Science (New York, N.Y.) · 2025Article
- Association ofGenes · 2025Article
- Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.Birth defects research · 2025Article
- Article
- Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis.Nature communications · 2025Article
- Distinct gene regulatory dynamics drive skeletogenic cell fate convergence during vertebrate embryogenesis.Nature communications · 2025Article
- Therapy to teratology: chronic paternal antioxidant supplementation alters offspring placental architecture and craniofacial morphogenesis in a mouse model.Frontiers in cell and developmental biology · 2025Article
- Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.HGG advances · 2024Article
- Gapped-kmer sequence modeling robustly identifies regulatory vocabularies and distal enhancers conserved between evolutionarily distant mammals.Nature communications · 2024Article
- Increased enhancer-promoter interactions during developmental enhancer activation in mammals.Nature genetics · 2024Article
83 more citing papers are in PubMed but not listed here.
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20 authors.
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Abstract
The shape of the human face and skull is largely genetically determined. However, the genomic basis of craniofacial morphology is incompletely understood and hypothesized to involve protein-coding genes, as well as gene regulatory sequences. We used a combination of epigenomic profiling, in vivo characterization of candidate enhancer sequences in transgenic mice, and targeted deletion experiments to examine the role of distant-acting enhancers in craniofacial development. We identified complex regulatory landscapes consisting of enhancers that drive spatially complex developmental expression patterns. Analysis of mouse lines in which individual craniofacial enhancers had been deleted revealed significant alterations of craniofacial shape, demonstrating the functional importance of enhancers in defining face and skull morphology. These results demonstrate that enhancers are involved in craniofacial development and suggest that enhancer sequence variation contributes to the diversity of human facial morphology.
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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.