ArticleEuropean journal of oral sciences2011
Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.
Article in European journal of oral sciences, 2011. 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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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
19 citing papers in PubMed, 31 citations in OpenAlex.
- Splicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta.BMC oral health · 2026Article
- Functions of secretory calcium-binding phosphoproteins in dental mineralization.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Review
- Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.Frontiers in cell and developmental biology · 2024Review
- Dentin defects caused by a DsppScientific reports · 2023Article
- Translated MutantJournal of personalized medicine · 2022Article
- Article
- Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novelAnnals of translational medicine · 2021Article
- Mouse Dspp frameshift model of human dentinogenesis imperfecta.Scientific reports · 2021Article
- Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice.Frontiers in physiology · 2021Article
- Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.International journal of oral science · 2018Article
- Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.Molecular genetics & genomic medicine · 2018Article
- The dentin phosphoprotein repeat region and inherited defects of dentin.Molecular genetics & genomic medicine · 2016Article
- Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.Frontiers in physiology · 2016Article
- The molecular basis of hereditary enamel defects in humans.Journal of dental research · 2015Review
- Ameloblast transcriptome changes from secretory to maturation stages.Connective tissue research · 2014Article
- Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.PloS one · 2012Article
- Oral manifestation in a pediatric patient with pentasomy x. A case report.Revista cientifica odontologica (Universidad Cientifica del Sur)Article
- Accelerated enamel mineralization in Dspp mutant mice.Matrix biology : journal of the International Society for Matrix BiologyArticle
- Intrinsically disordered proteins and biomineralization.Matrix biology : journal of the International Society for Matrix BiologyReview
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Dentin sialophosphoprotein (DSPP) mutations cause dentin dysplasia type II (DD-II) and dentinogenesis imperfecta types II and III (DGI-II and DGI-III, respectively). We identified two kindreds with DGI-II who exhibited vertical bands of hypoplastic enamel. Both families had a previously reported DSPP mutation that segregated with the disease phenotype. Oral photographs and dental radiographs of four affected and one unaffected participant in one family and of the proband in the second family were used to document the dental phenotypes. We aligned the 33 unique allelic DSPP sequences showing variable patterns of insertions and deletions (indels), generated a merged dentin phosphoprotein (DPP) sequence that includes sequences from all DSPP length haplotypes, and mapped the known DSPP mutations in this context. Analyses of the DSPP sequence changes and their probable effects on protein expression, as well as published findings of the dental phenotype in Dspp null mice, support the hypothesis that all DSPP mutations cause pathology through dominant-negative effects. Noting that Dspp is transiently expressed by mouse pre-ameloblasts during formation of the dentino-enamel junction, we hypothesize that DSPP dominant-negative effects potentially cause cellular pathology in pre-ameloblasts that, in turn, causes enamel defects. We conclude that enamel defects can be part of the dental phenotype caused by DSPP mutations, although DSPP is not critical for dental enamel formation.
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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.