ArticleHuman genetics2009
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed, 77 citations in OpenAlex.
- Silencing of lncRNA TFAP2A-AS1 attenuates the development of acute coronary syndrome by inhibiting TFAP2A expression.Biomedical reports · 2026Article
- Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- The Molecular Mechanism of Craniofacial Cartilage Deformity Induced by High Glucose in Zebrafish.Current issues in molecular biology · 2025Article
- Ferroptosis-related hub genes and immune cell dynamics as diagnostic biomarkers in age-related macular degeneration.European journal of medical research · 2025Article
- Docosahexaenoic acid (DHA) is a driving force regulating gene expression in bluefin tuna (Thunnus thynnus) larvae development.Scientific reports · 2024Article
- Article
- Transforming growth factor beta signaling and craniofacial development: modeling human diseases in zebrafish.Frontiers in cell and developmental biology · 2024Review
- SOX2-positive retinal stem cells are identified in adult human pars plicata by single-cell transcriptomic analyses.MedComm · 2023Article
- Optic cup morphogenesis across species and related inborn human eye defects.Development (Cambridge, England) · 2023Review
- BMP3 is a novel locus involved in the causality of ocular coloboma.Human genetics · 2022Article
- Loss of zebrafish dzip1 results in inappropriate recruitment of periocular mesenchyme to the optic fissure and ocular coloboma.PloS one · 2022Article
- DNA-based eyelid trait prediction in Chinese Han population.International journal of legal medicine · 2021Article
- Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.Journal of developmental biology · 2020Review
- Early Embryonic Expression ofJournal of cardiovascular development and disease · 2020Article
- Chemical-induced craniofacial anomalies caused by disruption of neural crest cell development in a zebrafish model.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Article
- Optic cup morphogenesis requires neural crest-mediated basement membrane assembly.Development (Cambridge, England) · 2020Article
- A Heterozygous Novel Mutation inFrontiers in pediatrics · 2020Article
- Looking to the future of zebrafish as a model to understand the genetic basis of eye disease.Human genetics · 2019Review
- The Molecular Basis of Human Anophthalmia and Microphthalmia.Journal of developmental biology · 2019Review
- The biological characteristics of transcription factors AP-2α and AP-2γ and their importance in various types of cancers.Bioscience reports · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 9 institutions in 3 countries.
Funding
Abstract
Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (BOFS), a rare dominant disorder characterized by distinctive craniofacial, ocular, ectodermal and renal anomalies. To elucidate the range of ocular phenotypes caused by mutations in TFAP2A, we took three approaches. First, we screened a cohort of 37 highly selected individuals with severe ocular anomalies plus variable defects associated with BOFS for mutations or deletions in TFAP2A. We identified one individual with a de novo TFAP2A four amino acid deletion, a second individual with two non-synonymous variations in an alternative splice isoform TFAP2A2, and a sibling-pair with a paternally inherited whole gene deletion with variable phenotypic expression. Second, we determined that TFAP2A is expressed in the lens, neural retina, nasal process, and epithelial lining of the oral cavity and palatal shelves of human and mouse embryos--sites consistent with the phenotype observed in patients with BOFS. Third, we used zebrafish to examine how partial abrogation of the fish ortholog of TFAP2A affects the penetrance and expressivity of ocular phenotypes due to mutations in genes encoding bmp4 or tcf7l1a. In both cases, we observed synthetic, enhanced ocular phenotypes including coloboma and anophthalmia when tfap2a is knocked down in embryos with bmp4 or tcf7l1a mutations. These results reveal that mutations in TFAP2A are associated with a wide range of eye phenotypes and that hypomorphic tfap2a mutations can increase the risk of developmental defects arising from mutations at other loci.
Indexed as
Identifiers
What OpenQuestion holds
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.