ArticleJournal of human genetics2006
Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 109 citations in OpenAlex.
- Trial
- Integrated Genetic Networks and Epigenetic Regulation inTooth Development and Maturation.Cells · 2026Review
- Article
- Exonic and IntronicDiagnostics (Basel, Switzerland) · 2025Article
- Genetic Factors of Teeth Impaction: Polymorphic and Haplotype Variants ofInternational journal of molecular sciences · 2023Article
- Intertwined Signaling Pathways Governing Tooth Development: A Give-and-Take Between Canonical Wnt and Shh.Frontiers in cell and developmental biology · 2021Review
- Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.Human molecular genetics · 2020Article
- WNT Signaling in Disease.Cells · 2019Review
- Study of rs12532, rs8670 Polymorphism of Msh Homeobox 1 (MSX1), rs61754301, rs4904155 Polymorphism of Paired Box Gene 9 (PAX9), and rs2240308 Polymorphism of Axis Inhibitor Protein 2 (AXIN2) Genes in Nonsyndromic Hypodontia.BioMed research international · 2019Article
- WNT10A variants in relation to nonsyndromic hypodontia in eastern Slovak population.Journal of genetics · 2018Article
- The transcription factor NKX2-3 mediates p21 expression and ectodysplasin-A signaling in the enamel knot for cusp formation in tooth development.The Journal of biological chemistry · 2018Article
- Review
- Role of the Wnt signaling molecules in the tooth.The Japanese dental science review · 2016Review
- Hypodontia and ovarian cancer: A systematic review.Journal of the Turkish German Gynecological Association · 2016Review
- Hypodontia phenotype in patients with epithelial ovarian cancer.Radiology and oncology · 2015Article
- Article
- Hypodontia prevalence and pattern in women with epithelial ovarian cancer.The Angle orthodontist · 2014Article
- Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review.Medicina oral, patologia oral y cirugia bucal · 2014Review
- Colorectal cancer and self-reported tooth agenesis.Hereditary cancer in clinical practice · 2014Article
- AXIN genetic analysis in adrenocortical carcinomas updated.Journal of endocrinological investigation · 2013Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Selective tooth agenesis is the most common developmental abnormality of the human dentition. To date, this abnormality has been associated only with mutations in MSX1 and PAX9 mutations, however it has recently been suggested that mutations of axis inhibition protein 2 (AXIN2) may also contribute to this complex anomaly. The protein product of this gene is a negative regulator of the Wnt-signaling pathway. We searched for AXIN2 variants in a group of patients with tooth agenesis who did not have mutations of MSX1 and PAX9. Using multi-temperature single-stranded conformational polymorphism and sequencing analysis, we identified three novel AXIN2 gene variants: c.956+16A > G, c.1060-17C > T and c.2062C > T. We also observed that individuals carrying the c.956+16G and c.2062T alleles exhibited an increased risk of tooth agenesis. The calculated odds ratio was 2.94 (95% CI 1.104-7.816; p = 0.026; p(corr) = 0.234) and 4.01 (95% CI 1.563-10.301; p = 0.002; p(corr) = 0.018), respectively. Moreover, we found that the c.2062C > T transition may change exon splice enhancer-specific binding sites of the protein splicing regulators SC35 and SF2/ASF. This alternation may negatively affect the splicing process and cellular concentration of AXIN2 protein. Our findings suggest that AXIN2 polymorphic variants may be associated with both hypodontia and oligodontia.
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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.