ArticleJournal of dental research2013
Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing.
Article in Journal of dental research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 53 citations in OpenAlex.
- Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta.International dental journal · 2026Pooled it
- Maternal plasma folate impacts differential DNA methylation in an epigenome-wide meta-analysis of newborns.Nature communications · 2016Pooled it
- Integrative multi-omics and bioinformatic analysis ofThe Japanese dental science review · 2026Review
- Pre-eruptive Coronal Resorptions as a Clinical Feature of FAM83H-Related Amelogenesis Imperfecta: Insights from Two Brazilian Families.Calcified tissue international · 2026Article
- Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.PloS one · 2025Article
- Phenotypic variability in LAMA3-associated amelogenesis imperfecta.Oral diseases · 2023Article
- Matrix metalloproteinases in arthritis: towards precision medicine.Nature reviews. Rheumatology · 2023Review
- Article
- Article
- The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta.Clinical oral investigations · 2022Article
- NovelJournal of personalized medicine · 2022Article
- Dental malformations associated with biallelic MMP20 mutations.Molecular genetics & genomic medicine · 2020Article
- ENAM mutations and digenic inheritance.Molecular genetics & genomic medicine · 2019Article
- MMP20 Overexpression Disrupts Molar Ameloblast Polarity and Migration.Journal of dental research · 2018Article
- Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Frontiers in physiology · 2017Review
- Analyses ofFrontiers in physiology · 2017Article
- A FourthFrontiers in physiology · 2017Article
- Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-IdentifiedFrontiers in physiology · 2017Article
- Kallikreins - The melting pot of activity and function.Biochimie · 2016Review
- MMP20, KLK4, and MMP20/KLK4 double null mice define roles for matrix proteases during dental enamel formation.Molecular genetics & genomic medicine · 2016Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
Non-syndromic amelogenesis imperfecta (AI) is a collection of isolated inherited enamel malformations that follow X-linked, autosomal-dominant, or autosomal-recessive patterns of inheritance. The AI phenotype is also found in syndromes. We hypothesized that whole-exome sequencing of AI probands showing simplex or recessive patterns of inheritance would identify causative mutations among the known candidate genes for AI. DNA samples obtained from 12 unrelated probands with AI were analyzed. Disease-causing mutations were identified in three of the probands: a novel single-nucleotide deletion in both KLK4 alleles (g.6930delG; c.245delG; p.Gly82Alafs*87) that shifted the reading frame, a novel missense transition mutation in both MMP20 alleles (g.15390A>G; c.611A>G; p.His204Arg) that substituted arginine for an invariant histidine known to coordinate a structural zinc ion, and a previously described nonsense transition mutation in a single allele of FAM83H (c.1379G>A; g.5663G>A; p.W460*). Erupted molars and cross-sections from unerupted parts of the mandibular incisors of Mmp20 null mice were characterized by scanning electron microscopy. Their enamel malformations closely correlated with the enamel defects displayed by the proband with the MMP20 mutation. We conclude that whole-exome sequencing is an effective means of identifying disease-causing mutations in kindreds with AI, and this technique should prove clinically useful for this purpose.
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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.