ArticleHuman molecular genetics2009
Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis 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.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.BMC oral health · 2025Pooled it
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- The dominant negative mutation of PAX9 in nonsyndromic tooth agenesis.Clinical oral investigations · 2025Article
- Article
- Review
- Tooth agenesis patterns and variants inThe Japanese dental science review · 2023Review
- Count Me in, Count Me out: Regulation of the Tooth Number via Three Directional Developmental Patterns.International journal of molecular sciences · 2023Review
- The phenotype and genotype of PAX9 mutations causing tooth agenesis.Clinical oral investigations · 2023Article
- Article
- Four NovelInternational journal of molecular sciences · 2022Article
- Identification of novel candidate genes implicated in odontogenic potential in the developing mouse tooth germ using transcriptome analysis.Genes & genomics · 2021Article
- The role of external aetiological factors in dental anomalies in non-syndromic cleft lip and palate patients.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2019Article
- Graphene-Based Nanomaterials for Tissue Engineering in the Dental Field.Nanomaterials (Basel, Switzerland) · 2018Review
- Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis.PloS one · 2017Article
- Article
- Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.PloS one · 2012Article
- Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.European journal of human genetics : EJHG · 2011Article
- Msx1 mutations: how do they cause tooth agenesis?Journal of dental research · 2011Article
- Regulation of bmp4 expression in odontogenic mesenchyme: from simple to complex.Cells, tissues, organs · 2011Article
- Multilevel complex interactions between genetic, epigenetic and environmental factors in the aetiology of anomalies of dental development.Archives of oral biology · 2009Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in the paired-domain transcription factor PAX9 are associated with non-syndromic tooth agenesis that preferentially affects posterior dentition. Of the 18 mutations identified to date, eight are phenotypically well-characterized missense mutations within the DNA-binding paired domain. We determined the structural and functional consequences of these paired domain missense mutations and correlated our findings with the associated dental phenotype variations. In vitro testing included subcellular localization, protein-protein interactions between MSX1 and mutant PAX9 proteins, binding of PAX9 mutants to a DNA consensus site and transcriptional activation from the Pax9 effector promoters Bmp4 and Msx1 with and without MSX1 as co-activator. All mutant PAX9 proteins were localized in the nucleus of transfected cells and physically interacted with MSX1 protein. Three of the mutants retained the ability to bind the consensus paired domain recognition sequence; the others were unable or only partly able to interact with this DNA fragment and also showed a similarly impaired capability for activation of transcription from the Msx1 and Bmp4 promoters. For seven of the eight mutants, the degree of loss of DNA-binding and promoter activation correlated quite well with the severity of the tooth agenesis pattern seen in vivo. One of the mutants however showed neither reduction in DNA-binding nor decrease in transactivation; instead, a loss of responsiveness to synergism with MSX1 in target promoter activation and a dominant negative effect when expressed together with wild-type PAX9 could be observed. Our structure-based studies, which modeled DNA binding and subdomain stability, were able to predict functional consequences quite reliably.
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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.