ArticleJournal of dental research2011
Msx1 mutations: how do they cause tooth agenesis?
Article in Journal of dental research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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Who cites it
15 citing papers in PubMed, 33 citations in OpenAlex.
- Wnt3a promotes in situ dentin formation through NKD1-MSX1 axis-mediated odontogenic differentiation of dental pulp stem cells.International journal of oral science · 2026Article
- Count Me in, Count Me out: Regulation of the Tooth Number via Three Directional Developmental Patterns.International journal of molecular sciences · 2023Review
- Genetic Factors of Teeth Impaction: Polymorphic and Haplotype Variants ofInternational journal of molecular sciences · 2023Article
- Tooth number abnormality: from bench to bedside.International journal of oral science · 2023Review
- Review
- Analyses of oligodontia phenotypes and genetic etiologies.International journal of oral science · 2021Article
- Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.Human genome variation · 2021Article
- Article
- Novel MSX1 variants identified in families with nonsyndromic oligodontia.International journal of oral science · 2021Article
- A novel mutation of MSX1 in oligodontia inhibits odontogenesis of dental pulp stem cells via the ERK pathway.Stem cell research & therapy · 2018Article
- Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.Scientific reports · 2016Article
- Molecular basis of hypohidrotic ectodermal dysplasia: an update.Journal of applied genetics · 2016Review
- MSX2 in ameloblast cell fate and activity.Frontiers in physiology · 2014Review
- Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis.PloS one · 2014Article
- Regulation of bmp4 expression in odontogenic mesenchyme: from simple to complex.Cells, tissues, organs · 2011Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in the transcription factors PAX9 and MSX1 cause selective tooth agenesis in humans. In tooth bud mesenchyme of mice, both proteins are required for the expression of Bmp4, which is the key signaling factor for progression to the next step of tooth development. We have previously shown that Pax9 can transactivate a 2.4-kb Bmp4 promoter construct, and that most tooth-agenesis-causing PAX9 mutations impair DNA binding and Bmp4 promoter activation. We also found that Msx1 by itself represses transcription from this proximal Bmp4 promoter, and that, in combination with Pax9, it acts as a potentiator of Pax9-induced Bmp4 transactivation. This synergism of Msx1 with Pax9 is significant, because it is currently the only documented mechanism for Msx1-mediated activation of Bmp4. In this study, we investigated whether the 5 known tooth-agenesis-causing MSX1 missense mutations disrupt this Pax9-potentiation effect, or if they lead to deficiencies in protein stability, protein-protein interactions, nuclear translocation, and DNA-binding. We found that none of the studied molecular mechanisms yielded a satisfactory explanation for the pathogenic effects of the Msx1 mutations, calling for an entirely different approach to the investigation of this step of odontogenesis on the molecular level.
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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.