ArticleAmerican journal of human genetics2011
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Conservation of Epithelial-to-Mesenchymal Transition Process in Neural Crest Cells and Metastatic Cancer.Cells, tissues, organs · 2021Pooled it
- Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.Human mutation · 2025Review
- 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
- Genome sequences of Tropheus moorii and Petrochromis trewavasae, two eco-morphologically divergent cichlid fishes endemic to Lake Tanganyika.Scientific reports · 2021Article
- Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex.Journal of developmental biology · 2020Review
- Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders.Frontiers in endocrinology · 2020Review
- Chemical-Induced Cleft Palate Is Caused and Rescued by Pharmacological Modulation of the Canonical Wnt Signaling Pathway in a Zebrafish Model.Frontiers in cell and developmental biology · 2020Article
- Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.Frontiers in cell and developmental biology · 2020Review
- Review
- Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review.Diagnostic pathology · 2019Review
- GWAS reveals loci associated with velopharyngeal dysfunction.Scientific reports · 2018Article
- Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.Journal of dental research · 2018Article
- Zebrafish models of orofacial clefts.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
- A novel inducible mutagenesis screen enables to isolate and clone both embryonic and adult zebrafish mutants.Scientific reports · 2017Article
- Update on 13 Syndromes Affecting Craniofacial and Dental Structures.Frontiers in physiology · 2017Review
- Diabetes mellitus and drug abuse during pregnancy and the risk for orofacial clefts and related abnormalities.Revista latino-americana de enfermagem · 2016Observational
- A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.American journal of human genetics · 2016Article
- Epidemiology, Etiology, and Treatment of Isolated Cleft Palate.Frontiers in physiology · 2016Review
- Zebrafish Craniofacial Development: A Window into Early Patterning.Current topics in developmental biology · 2015Review
- Overlap of Patau and Pierre Robin syndromes along with abnormal metabolism: an interesting case study.Journal of genetics · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 11 institutions in 6 countries.
Funding
Abstract
Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC formation, epithelial-mesenchymal transition, migration along distinct paths, and differentiation. Errors in these processes lead to craniofacial abnormalities, including cleft lip and palate. Clefts are the most common congenital craniofacial defects. Patients have complications with feeding, speech, hearing, and dental and psychological development. Affected by both genetic predisposition and environmental factors, the complex etiology of clefts remains largely unknown. Here we show that Fas-associated factor-1 (FAF1) is disrupted and that its expression is decreased in a Pierre Robin family with an inherited translocation. Furthermore, the locus is strongly associated with cleft palate and shows an increased relative risk. Expression studies show that faf1 is highly expressed in zebrafish cartilages during embryogenesis. Knockdown of zebrafish faf1 leads to pharyngeal cartilage defects and jaw abnormality as a result of a failure of CNC to differentiate into and express cartilage-specific markers, such as sox9a and col2a1. Administration of faf1 mRNA rescues this phenotype. Our findings therefore identify FAF1 as a regulator of CNC differentiation and show that it predisposes humans to cleft palate and is necessary for lower jaw development in zebrafish.
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.