ArticleJournal of dental research2018
Nine Novel PAX9 Mutations and a Distinct Tooth Agenesis Genotype-Phenotype.
Article in Journal of dental research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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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
31 citing papers in PubMed, 46 citations in OpenAlex.
- PAX9 activates autophagy through a transcription-dependent mechanism, promoting EGFR degradation to restrict cell survival in oral cancer.British journal of cancer · 2026Article
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- Three-dimensional tooth morphology in patients with tooth agenesis and its association to agenesis pattern, severity, and sex.Scientific reports · 2025Article
- Decoding dental mesenchymal stem cells diversity: single-cell transcriptomics maps heterogeneity in molar development.Frontiers in cell and developmental biology · 2025Review
- A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9variants.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2024Article
- Article
- Investigation of the fungiform papillae number in children with tooth number anomalies.Clinical oral investigations · 2024Article
- "Examining the link between tooth agenesis and papillary thyroid cancer: is there a risk factor?" Observational study.Progress in orthodontics · 2024Observational
- Tooth agenesis patterns and variants inThe Japanese dental science review · 2023Review
- PAX9 mutations and genetic synergism in familial tooth agenesis.Annals of the New York Academy of Sciences · 2023Article
- Genetic/Protein Association of Atopic Dermatitis and Tooth Agenesis.International journal of molecular sciences · 2023Review
- Tooth number abnormality: from bench to bedside.International journal of oral science · 2023Review
- Genotype-phenotype pattern analysis of pathogenicFrontiers in genetics · 2023Article
- Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants.Journal of applied oral science : revista FOB · 2023Article
- A NovelDiagnostics (Basel, Switzerland) · 2022Article
- Article
- Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.Molecular genetics & genomic medicine · 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
- Review
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
Tooth agenesis is one of the most common developmental anomalies affecting function and esthetics. The paired-domain transcription factor, Pax9, is critical for patterning and morphogenesis of tooth and taste buds. Mutations of PAX9 have been identified in patients with tooth agenesis. Despite significant progress in the genetics of tooth agenesis, many gaps in knowledge exist in refining the genotype-phenotype correlation between PAX9 and tooth agenesis. In the present study, we complete genetic and phenotypic characterization of multiplex Chinese families with nonsyndromic (NS) tooth agenesis. Direct sequencing of polymerase chain reaction products revealed 9 novel (c.140G>C, c.167T>A, c.332G>C, c.194C>A, c.271A>T, c.146delC, c.185_189dup, c.256_262dup, and c.592delG) and 2 known heterozygous mutations in the PAX9 gene among 120 probands. Subsequently, pedigrees were extended, and we confirmed that the mutations co-segregated with the tooth agenesis phenotype (with exception of families in which DNA analysis was not available). In 1 family ( n = 6), 2 individuals harbored both the PAX9 c.592delG mutation and a heterozygous missense mutation (c.739C>T) in the MSX1 gene. Clinical characterization of families segregating a PAX9 mutation reveal that all affected individuals were missing the mandibular second molar and their maxillary central incisors are most susceptible to microdontia. A significant reduction of bitter taste perception was documented in individuals harboring PAX9 mutations ( n = 3). Functional studies revealed that PAX9 haploinsufficiency or a loss of function of the PAX9 protein underlies tooth agenesis.
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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.