ArticleArchives of oral biology2019
BMP4 mutations in tooth agenesis and low bone mass.
Article in Archives of oral biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 43 citations in OpenAlex.
- Stem cell-driven biomedical technologies for tooth regeneration: engineering scaffolds, organoid models, and molecular targeted strategies.Stem cell research & therapy · 2026Review
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- Association between tooth agenesis and developmental dental anomalies: an observational study with machine learning analysis.Dental press journal of orthodontics · 2026Observational
- WNT10A-SMOC2-LRP4 network affects permanent tooth development via potential tooth-bone interaction.BMC oral health · 2025Article
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- Effects of dietary supplementation of vitamin A on the tibia quality of goslings.Animal bioscience · 2024Article
- Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families.Clinical oral investigations · 2023Article
- Single-cell census of human tooth development enables generation of human enamel.Developmental cell · 2023Article
- Phylobone: a comprehensive database of bone extracellular matrix proteins in human and model organisms.Bone research · 2023Article
- Article
- Review
- Article
- Computational Insights into the Structural and Functional Impacts of nsSNPs of Bone Morphogenetic Proteins.BioMed research international · 2022Article
- A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway.Stem cell research & therapy · 2021Article
- Identification of bone morphogenetic protein 4 in the saliva after the placement of fixed orthodontic appliance.Progress in orthodontics · 2021Observational
- SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.American journal of human genetics · 2021Article
- Genetic Variants in miRNAs Are Associated With Risk of Non-syndromic Tooth Agenesis.Frontiers in physiology · 2020Article
- Effect of the Abnormal Expression of BMP-4 in the Blood of Diabetic Patients on the Osteogenic Differentiation Potential of Alveolar BMSCs and the Rescue Effect of Metformin: A Bioinformatics-Based Study.BioMed research international · 2020Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
objectiveTo identify an uncommon genetic cause of tooth agenesis (TA) by utilizing whole exome sequencing (WES) and targeted Sanger sequencing in a cohort of 120 patients with isolated TA.
designOne deleterious mutation in the gene encoding bone morphogenetic protein 4 (BMP4) was identified in 6 unrelated patients with TA by WES. After that, the coding exons of BMP4 were examined in 114 TA patients using Sanger sequencing. Dual-energy X-ray absorptiometry (DEXA) was used to measure the bone mineral density of patients who carried a BMP4 mutation. Finally, preliminary functional studies of two BMP4 mutants were performed.
resultsWe detected 3 novel missense mutations (c.58 G > A: p.Gly20Ser, c.326 G > T: p.Arg109Leu and c.614 T > C: p.Val205Ala) and 1 reported mutation in the BMP4 gene among 120 TA probands. The previously reported BMP4 mutation (c.751C > T: p.His251Tyr) was associated with urethra and eye anomalies. By extending the pedigrees, we determined that the tooth phenotypes had an autosomal dominant inheritance pattern, as individuals carrying a BMP4 mutation exhibit different types of dental anomalies. Interestingly, we observed that patients harboring a BMP4 mutation manifested early onset osteopenia or osteoporosis. Further in vitro functional assays demonstrated that two BMP4 mutants resulted in a decreased activation of Smad signaling. Therefore, a loss-of-function in BMP4 may contribute to the clinical phenotypes seen in this study.
conclusionsWe identified 4 mutations in the BMP4 gene in 120 TA patients. To our knowledge, this is the first study to describe human skeletal diseases associated with BMP4 mutations.
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