ArticleStem cell research & therapy2018
A novel mutation of MSX1 in oligodontia inhibits odontogenesis of dental pulp stem cells via the ERK pathway.
Article in Stem cell research & therapy, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Relationship Between Epstein-Barr Virus LMP-1 and BRAF-V600E Mutant Protein Expression in Ameloblastoma.Dentistry journal · 2026Article
- [Progress in regulating stem cell functions for repair and regeneration of craniomaxillofacial tissues].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2026Review
- Developmental Disturbances of Teeth in Children with Autism Spectrum Disorder and Attention-deficit Hyperactivity Disorder: A Cross-sectional Study.International journal of clinical pediatric dentistry · 2025Article
- NovelChildren (Basel, Switzerland) · 2024Article
- Exploring Various Transfection Approaches and Their Applications in Studying the Regenerative Potential of Dental Pulp Stem Cells.Current issues in molecular biology · 2023Review
- Genome-wide screening for deubiquitinase subfamily identifies ubiquitin-specific protease 49 as a novel regulator of odontogenesis.Cell death and differentiation · 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
- Review
- A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway.Stem cell research & therapy · 2021Article
- Novel MSX1 variants identified in families with nonsyndromic oligodontia.International journal of oral science · 2021Article
- Case Report: A NovelFrontiers in genetics · 2021Article
- Phosphorylation of Msx1 promotes cell proliferation through the Fgf9/18-MAPK signaling pathway during embryonic limb development.Nucleic acids research · 2020Article
- Two novel mutations in MSX1 causing oligodontia.PloS one · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTooth agenesis, one of the most common developmental anomalies, can affect the function and esthetics of patients. The aim of the present study was to identify genetic clues for familial tooth agenesis and explore the underlying mechanisms, focusing on the role of human dental pulp stem cells (hDPSCs).
methodsWe applied Sanger sequencing to identify the cause of oligodontia in a Chinese family. DNA transfection and functional analysis in DPSCs was also performed to explore the impact of the identified mutation on this phenotype.
resultsIn this study, a novel frameshift mutation, the twenty-nucleotide deletion (c.128_147del20, p.Met43Serfsx125), in exon1 of MSX1 was detected in a Chinese family causing autosomal dominant nonsyndromic oligodontia. The mutation cosegregated with the tooth agenesis phenotype in this family. DPSCs transfected with mutant MSX1 plasmid showed decreased capacity of osteo/odontogenic differentiation with a lower expression level of dentin sialophosphoprotein (DSPP) and bone sialoprotein (BSP) compared with those transfected with control MSX1 plasmid. Mechanically, control MSX1 showed nuclear localization while the mutant MSX1 inhibited its nuclear translocation and localized on the cytoplasm to inhibit ERK phosphorylation. Furthermore, we inhibited the ERK pathway using ERK inhibitor (U0126) treatment in control MSX1-transfected DPSCs which could downregulate mineralized nodule formation and the expression of odontogenic genes.
conclusionWe demonstrated a novel MSX1 mutation causing familial nonsyndromic oligodontia and mechanically MSX1 regulates odontogenesis through the ERK signaling pathway in human dental pulp stem cells.
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