ArticleJournal of dental research2020
Alteration of Exon Definition Causes Amelogenesis Imperfecta.
Article in Journal of dental research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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.
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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
20 citing papers in PubMed, 31 citations in OpenAlex.
- Integrative multi-omics and bioinformatic analysis ofThe Japanese dental science review · 2026Review
- NovelJournal of dental sciences · 2026Article
- Antisense oligonucleotides-mediated rescue of theJournal of dental sciences · 2026Article
- [Frameshift mutation inBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2025Article
- Alternative Splicing of Pre-mRNA Matters in Oral Diseases.Current gene therapy · 2025Review
- A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.Frontiers in genetics · 2025Article
- 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
- Nonsynonymous Synonymous Variants Demand for a Paradigm Shift in Genetics.Current genomics · 2023Review
- The Dynamic Interactions of a Multitargeting Domain in Ameloblastin Protein with Amelogenin and Membrane.International journal of molecular sciences · 2023Article
- Article
- When a Synonymous Variant Is Nonsynonymous.Genes · 2022Article
- Article
- A RecurrentChildren (Basel, Switzerland) · 2022Article
- Recessive Mutations inJournal of dental research · 2022Article
- Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations inJournal of personalized medicine · 2021Article
- Translational Attenuation by an Intron Retention in the 5' UTR ofBiomedicines · 2021Article
- A Novel De NovoGenes · 2021Article
- Case Report: A Synonymous Mutation inFrontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
Amelogenesis imperfecta (AI) is a collection of genetic disorders affecting the quality and/or quantity of tooth enamel. More than 20 genes are, so far, known to be responsible for this condition. In this study, we recruited 3 Turkish families with hypomaturation AI. Whole-exome sequence analyses identified disease-causing mutations in each proband, and these mutations cosegregated with the AI phenotype in all recruited members of each family. The AI-causing mutations in family 1 were a novel
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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.