Trial reportPloS one2015
A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia.
Trial report in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.BMC oral health · 2025Pooled it
- AXIN2 variants, tooth agenesis, and cancer risk: a systematic review.BMC oral health · 2025Pooled it
- Tooth agenesis patterns and variants inThe Japanese dental science review · 2023Review
- The Profile of Articles onJournal of empirical research on human research ethics : JERHRE · 2022Article
- Non-syndromic familial congenital dental deficiency: two cases report.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2022Article
- Four NovelInternational journal of molecular sciences · 2022Article
- Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?Familial cancer · 2022Article
- Variants inProceedings of the National Academy of Sciences of the United States of America · 2020Article
- Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta.Orphanet journal of rare diseases · 2020Article
- Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.Familial cancer · 2019Article
- A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.American journal of medical genetics. Part A · 2018Article
- Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.Familial cancer · 2017Article
- Mutations in WNT10B Are Identified in Individuals with Oligodontia.American journal of human genetics · 2016Article
- Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain.Frontiers in neuroscience · 2016Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Oligodontia is defined as the congenital absence of six or more permanent teeth, excluding the third molars. Oligodontia may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Numerous gene mutations have been association with oligodontia. In the present study, we identified a de novo AXIN2 missense mutation (c.314T>G) in a Chinese individual with non-syndromic oligodontia. This mutation results in the substitution of Val at residue 105 for Gly (p.Val105Gly); residue 105 is located in the highly conserved regulator of G protein signaling (RGS) domain of the AXIN2 protein. This is the first report indicating that a mutation in the RGS domain of AXIN2 is responsible for non-syndromic oligodontia. Our study supports the relationship between AXIN2 mutation and non-syndromic oligodontia and extends the mutation spectrum of the AXIN2 gene.
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