ArticleJournal of dental research2006
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21.
Article in Journal of dental research, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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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
27 citing papers in PubMed, 81 citations in OpenAlex.
- Beyond the diagnosis: UnravelingThe Japanese dental science review · 2026Review
- Article
- Expert consensus on the diagnosis and management of tooth developmental anomalies.International journal of oral science · 2026Review
- Effects of dentinogenesis imperfecta, sex, and tooth type on the compositional and structural organization of the dentin-enamel junction in the osteogenesis imperfecta murine model.Archives of oral biology · 2025Article
- Functional and Aesthetic Treatment of Patients With Tooth Structure Anomalies: A Narrative Review.Cureus · 2025Review
- A standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta.Orphanet journal of rare diseases · 2024Article
- Dentinogenesis imperfecta in a 6-year-old male neutered Labrador retriever: Case report with atypical clinical presentation and treatment review.Frontiers in veterinary science · 2024Article
- Translated MutantJournal of personalized medicine · 2022Article
- Mouse Dspp frameshift model of human dentinogenesis imperfecta.Scientific reports · 2021Article
- Case Report: Rare Presentation of Dentin Abnormalities in Loeys-Dietz Syndrome Type I.Frontiers in dental medicine · 2021Article
- Clear Aligners in Patients with Amelogenesis and Dentinogenesis Imperfecta.International journal of dentistry · 2021Review
- Full Mouth Rehabilitation of Two Siblings with Dentinogenesis Imperfecta Type II Using Different Treatment Modalities.International journal of environmental research and public health · 2020Article
- X-ray microanalysis of dentine in primary teeth diagnosed Dentinogenesis Imperfecta type II.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2020Article
- Novel frameshift mutations in DSPP cause dentin dysplasia type II.Oral diseases · 2019Article
- Dentinogenesis imperfecta type II in Swedish children and adolescents.Orphanet journal of rare diseases · 2018Article
- The dentin phosphoprotein repeat region and inherited defects of dentin.Molecular genetics & genomic medicine · 2016Article
- The promise of human induced pluripotent stem cells in dental research.Stem cells international · 2012Article
- Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.European journal of oral sciences · 2011Article
- A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets.Journal of bone and mineral metabolism · 2010Article
- Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.Cells, tissues, organs · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 4 countries.
Funding
Abstract
Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders that primarily affect the formation of tooth dentin. Both conditions are autosomal-dominant and can be caused by mutations in the dentin sialophosphoprotein gene (DSPP, 4q21.3). We recruited 23 members of a four-generation kindred, including ten persons with dentin defects, and tested the hypothesis that these defects are linked to DSPP. The primary dentition showed amber discoloration, pulp obliteration, and severe attrition. The secondary dentition showed either pulp obliteration with bulbous crowns and gray discoloration or thistle-tube pulp configurations, normal crowns, and mild gray discoloration. Haplotype analyses showed no recombination between three 4q21-q24 markers and the disease locus. Mutational analyses identified no coding or intron junction sequence variations associated with affection status in DMP1, MEPE, or the DSP portion of DSPP. The defects in the permanent dentition were typically mild and consistent with a diagnosis of DD-II, but some dental features associated with DGI-II were also present. We conclude that DD-II and DGI-II are milder and more severe forms, respectively, of the same disease.
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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.