ArticleHuman molecular genetics2016
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed.
- Pseudogenes document protracted parallel regression of oral anatomy in myrmecophagous mammals.Molecular biology and evolution · 2026Article
- Expert consensus on the diagnosis and management of tooth developmental anomalies.International journal of oral science · 2026Review
- 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
- Article
- The Dynamic Interactions of a Multitargeting Domain in Ameloblastin Protein with Amelogenin and Membrane.International journal of molecular sciences · 2023Article
- Article
- Coemergence of the Amphipathic Helix on Ameloblastin With Mammalian Prismatic Enamel.Molecular biology and evolution · 2022Article
- Biomineralization of bone tissue: calcium phosphate-based inorganics in collagen fibrillar organic matrices.Biomaterials research · 2022Review
- Genome-wide screening for deubiquitinase subfamily identifies ubiquitin-specific protease 49 as a novel regulator of odontogenesis.Cell death and differentiation · 2022Article
- Amelotin Promotes Mineralization and Adhesion in Collagen-Based Systems.Cellular and molecular bioengineering · 2022Article
- A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.BMC medical genetics · 2020Article
- Alternatives to amelogenin markers for sex determination in humans and their forensic relevance.Molecular biology reports · 2020Review
- Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.International journal of oral science · 2018Article
- Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.Journal of dental research · 2018Article
- Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.European journal of human genetics : EJHG · 2017Article
- Novel FAM83H mutations in patients with amelogenesis imperfecta.Scientific reports · 2017Article
- DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.Physiological reviews · 2017Review
- DLX3-Dependent Regulation of Ion Transporters and Carbonic Anhydrases is Crucial for Enamel Mineralization.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2017Article
- Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Frontiers in physiology · 2017Review
- Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-IdentifiedFrontiers in physiology · 2017Article
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Authors and funding
8 authors.
Funding
Abstract
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) is a secreted protein thought to act as a promoter of matrix mineralization in the final stage of enamel development, and is strongly expressed, almost exclusively, in maturation stage ameloblasts. Amtn overexpression and Amtn knockout mouse models have defective enamel with no other associated phenotypes, highlighting AMTN as an excellent candidate gene for human AI. However, no AMTN mutations have yet been associated with human AI. Using whole exome sequencing, we identified an 8,678 bp heterozygous genomic deletion encompassing exons 3-6 of AMTN in a Costa Rican family segregating dominant hypomineralised AI. The deletion corresponds to an in-frame deletion of 92 amino acids, shortening the protein from 209 to 117 residues. Exfoliated primary teeth from an affected family member had enamel that was of a lower mineral density compared to control enamel and exhibited structural defects at least some of which appeared to be associated with organic material as evidenced using elemental analysis. This study demonstrates for the first time that AMTN mutations cause non-syndromic human AI and explores the human phenotype, comparing it with that of mice with disrupted Amtn function.
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