ArticleHuman molecular genetics2014
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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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
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 126 citations in OpenAlex.
- Genes in the pathway of tooth mineral tissues and dental caries risk: a systematic review and meta-analysis.Clinical oral investigations · 2020Pooled it
- 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
- Antisense oligonucleotides-mediated rescue of theJournal of dental sciences · 2026Article
- Mechanical Properties of Dental Enamel in Patients with Genetic Caries Susceptibility.International journal of molecular sciences · 2025Article
- 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
- The role of the TGF-β1 signaling pathway in the process of amelogenesis.Frontiers in physiology · 2025Review
- Deletion within ameloblastin multitargeting domain reduces its interaction with artificial cell membrane.Journal of structural biology · 2024Article
- Ameloblastin and its multifunctionality in amelogenesis: A review.Matrix biology : journal of the International Society for Matrix Biology · 2024Review
- Dental abnormalities in rare genetic bone diseases: Literature review.Clinical anatomy (New York, N.Y.) · 2024Review
- A novelJournal of dental sciences · 2024Article
- Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.Journal of dental research · 2024Article
- Regulation of Hydroxyapatite Nucleation In Vitro through Ameloblastin-Amelogenin Interactions.ACS biomaterials science & engineering · 2023Article
- Polymorphisms in genes expressed during amelogenesis and their association with dental caries: a case-control study.Clinical oral investigations · 2023Article
- The Dynamic Interactions of a Multitargeting Domain in Ameloblastin Protein with Amelogenin and Membrane.International journal of molecular sciences · 2023Article
- Article
- Overexpression of ameloblastin in secretory ameloblasts results in demarcated, hypomineralized opacities in enamel.Frontiers in physiology · 2023Article
- Coemergence of the Amphipathic Helix on Ameloblastin With Mammalian Prismatic Enamel.Molecular biology and evolution · 2022Article
- The Retention Effect of Resin-Based Desensitizing Agents on Hypersensitivity-A Randomized Controlled Trial.Materials (Basel, Switzerland) · 2022Article
- Article
12 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Amelogenesis imperfecta (AI) describes a heterogeneous group of inherited dental enamel defects reflecting failure of normal amelogenesis. Ameloblastin (AMBN) is the second most abundant enamel matrix protein expressed during amelogenesis. The pivotal role of AMBN in amelogenesis has been confirmed experimentally using mouse models. However, no AMBN mutations have been associated with human AI. Using autozygosity mapping and exome sequencing, we identified genomic deletion of AMBN exon 6 in a second cousin consanguineous family with three of the six children having hypoplastic AI. The genomic deletion corresponds to an in-frame deletion of 79 amino acids, shortening the protein from 447 to 368 residues. Exfoliated primary teeth (unmatched to genotype) were available from family members. The most severely affected had thin, aprismatic enamel (similar to that reported in mice homozygous for Ambn lacking exons 5 and 6). Other teeth exhibited thicker but largely aprismatic enamel. One tooth had apparently normal enamel. It has been suggested that AMBN may function in bone development. No clinically obvious bone or other co-segregating health problems were identified in the family investigated. This study confirms for the first time that AMBN mutations cause non-syndromic human AI and that mouse models with disrupted Ambn function are valid.
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