ArticleJournal of dental research2014
Alteration of conserved alternative splicing in AMELX causes enamel defects.
Article in Journal of dental research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 45 citations in OpenAlex.
- A splicing-derived microRNA from amelogenin exon4 regulates enamel formation via control of exon4 splicing and amelogenin expression.Scientific reports · 2026Article
- Antisense oligonucleotides-mediated rescue of theJournal of dental sciences · 2026Article
- A Single-cell Atlas of Developing Mouse Palates Reveals Cellular and Molecular Transitions in Periderm Cell Fate.Genomics, proteomics & bioinformatics · 2025Article
- Alternative Splicing of Pre-mRNA Matters in Oral Diseases.Current gene therapy · 2025Review
- Article
- Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.BMC oral health · 2023Article
- Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.Journal of dental research · 2023Article
- Polymorphisms in genes expressed during amelogenesis and their association with dental caries: a case-control study.Clinical oral investigations · 2023Article
- Article
- Identification of a NovelChildren (Basel, Switzerland) · 2022Article
- Spatiotemporal Changes in Transcriptome of Odontogenic and Non-odontogenic Regions in the Dental Arch ofFrontiers in cell and developmental biology · 2021Article
- Tooth Enamel and its Dynamic Protein Matrix.International journal of molecular sciences · 2020Review
- Computational approach towards identification of pathogenic missense mutations inMolecular biology research communications · 2020Article
- Alteration of Exon Definition Causes Amelogenesis Imperfecta.Journal of dental research · 2020Article
- Novel FAM83H mutations in patients with amelogenesis imperfecta.Scientific reports · 2017Article
- Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Frontiers in physiology · 2017Review
- Dose-Dependent Rescue of KO Amelogenin Enamel by TransgenesFrontiers in physiology · 2017Article
- Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.American journal of human genetics · 2016Article
- Enamel ribbons, surface nodules, and octacalcium phosphate in C57BL/6Molecular genetics & genomic medicine · 2016Article
- Exon4 amelogenin transcripts in enamel biomineralization.Journal of dental research · 2015Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tooth enamel is the most highly mineralized tissue in vertebrates. Enamel crystal formation and elongation should be well controlled to achieve an exceptional hardness and a compact microstructure. Enamel matrix calcification occurs with several matrix proteins, such as amelogenin, enamelin, and ameloblastin. Among them, amelogenin is the most abundant enamel matrix protein, and multiple isoforms resulting from extensive but well-conserved alternative splicing and postsecretional processing have been identified. In this report, we recruited a family with a unique enamel defect and identified a silent mutation in exon 4 of the AMELX gene. We show that the mutation caused the inclusion of exon 4, which is almost always skipped, in the mRNA transcript. We further show, by generating and characterizing a transgenic animal model, that the alteration of the ratio and quantity of the developmentally conserved alternative splicing repertoire of AMELX caused defects in enamel matrix mineralization.
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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.