ArticleThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2011
Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.
Article in The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses 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.
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.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Association between 20q12 rs13041247 polymorphism and risk of nonsyndromic cleft lip with or without cleft palate: a meta-analysis.BMC oral health · 2020Pooled it
- Polymorphic Variants of V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B (rs13041247 and rs11696257) and Risk of Non-Syndromic Cleft Lip/Palate: Systematic Review and Meta-Analysis.International journal of environmental research and public health · 2019Pooled it
- The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts.Genetics research · 2026Review
- Epidemiological pattern of cleft lip and palate under Rashtriya Bal Swasthya Karyakram project in the state of Bihar: A cross-sectional hospital-based study.Journal of family medicine and primary care · 2025Article
- A Large Multicenter Brazilian Case-Control Study Exploring Genetic Variations in Interferon Regulatory Factor 6 and the Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.International journal of molecular sciences · 2025Article
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- Association ofInternational journal of environmental research and public health · 2021Article
- ORTHODONTIC NEEDS OF PATIENTS WITH CLEFT LIP AND PALATE IN ENUGU, FIVE YEARS POST REPAIR.Annals of Ibadan postgraduate medicine · 2020Article
- Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2018Article
- Medical genetics and genomic medicine in Nigeria.Molecular genetics & genomic medicine · 2018Article
- Genetics and genomics etiology of nonsyndromic orofacial clefts.Molecular genetics & genomic medicine · 2017Article
- Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.Journal of dental research · 2016Article
- Diabetes mellitus and drug abuse during pregnancy and the risk for orofacial clefts and related abnormalities.Revista latino-americana de enfermagem · 2016Observational
- BMP7 Gene involved in nonsyndromic orofacial clefts in Western Han Chinese.Medicina oral, patologia oral y cirugia bucal · 2015Article
- CLEFT PALATE IN HIV-EXPOSED NEWBORNS OF MOTHERS ON HIGHLY ACTIVE ANTIRETROVIRAL THERAPY.Oral surgery · 2014Article
- Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.American journal of medical genetics. Part A · 2014Article
- Prevalence of orofacial clefts in Nigeria.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2014Article
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- MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2013Article
Corrections and comments
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Authors and funding
31 authors at 8 institutions in 2 countries.
Funding
Abstract
backgroundOrofacial clefts are the most common malformations of the head and neck, with a worldwide prevalence of 1 in 700 births. They are commonly divided into CL(P) and CP based on anatomic, genetic, and embryologic findings. A Nigerian craniofacial anomalies study (NigeriaCRAN) was set up in 2006 to investigate the role of gene-environment interaction in the origin of orofacial clefts in Nigeria. SUBJECTS AND
methodsDNA isolated from saliva from Nigerian probands was used for genotype association studies and direct sequencing of cleft candidate genes: MSX1 , IRF6 , FOXE1, FGFR1 , FGFR2 , BMP4 , MAFB, ABCA4 , PAX7, and VAX1 , and the chromosome 8q region.
resultsA missense mutation A34G in MSX1 was observed in nine cases and four HapMap controls. No other apparent causative variations were identified. Deviation from Hardy Weinberg equilibrium (HWE) was observed in these cases (p = .00002). A significant difference was noted between the affected side for unilateral CL (p = .03) and bilateral clefts and between clefts on either side (p = .02). A significant gender difference was also observed for CP (p = .008).
conclusionsReplication of a mutation previously implicated in other populations suggests a role for the MSX1 A34G variant in the development of CL(P).
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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.