ArticleJournal of dental research2013
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.
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 42 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.
The trial behind it
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
42 citing papers in PubMed, 62 citations in OpenAlex.
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Expert consensus on the diagnosis and management of tooth developmental anomalies.International journal of oral science · 2026Review
- Challenges of Studying Amelogenesis in Gene-Targeted Mouse Models.International journal of molecular sciences · 2025Review
- Localizations of Laminin Chains Suggest Their Multifaceted Functions in Mouse Tooth Development.International journal of molecular sciences · 2025Article
- A novelJournal of dental sciences · 2024Article
- Phenotypic variability in LAMA3-associated amelogenesis imperfecta.Oral diseases · 2023Article
- RecessiveJournal of personalized medicine · 2023Article
- Organoids from mouse molar and incisor as new tools to study tooth-specific biology and development.Stem cell reports · 2023Article
- Rethinking the Genetic Etiology of Nonsyndromic Tooth Agenesis.Current osteoporosis reports · 2022Review
- The synergistic effects of TGF-β1 and RUNX2 on enamel mineralization through regulating ODAPH expression during the maturation stage.Journal of molecular histology · 2022Article
- Organoids from human tooth showing epithelial stemness phenotype and differentiation potential.Cellular and molecular life sciences : CMLS · 2022Article
- Rare compound heterozygous variants ofFrontiers in physiology · 2022Article
- Recessive Mutations inJournal of dental research · 2022Article
- Transcriptional Regulation of Dental Epithelial Cell Fate.International journal of molecular sciences · 2020Review
- Follicular dendritic cell-secreted protein gene expression is upregulated and spread in nifedipine-induced gingival overgrowth.Odontology · 2020Article
- A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.BMC medical genetics · 2020Article
- Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.Journal of dental research · 2019Article
- Amelogenic transcriptome profiling in ameloblast-like cells derived from adult gingival epithelial cells.Scientific reports · 2019Article
- Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.Clinical oral investigations · 2019Article
- Mapping the Tooth Enamel Proteome and Amelogenin Phosphorylation Onto Mineralizing Porcine Tooth Crowns.Frontiers in physiology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 3 countries.
Funding
Abstract
Amelogenesis imperfecta (AI) can be either isolated or part of a larger syndrome. Junctional epidermolysis bullosa (JEB) is a collection of autosomal-recessive disorders featuring AI associated with skin fragility and other symptoms. JEB is a recessive syndrome usually caused by mutations in both alleles of COL17A1, LAMA3, LAMB3, or LAMC2. In rare cases, heterozygous carriers in JEB kindreds display enamel malformations in the absence of skin fragility (isolated AI). We recruited two kindreds with autosomal-dominant amelogenesis imperfecta (ADAI) characterized by generalized severe enamel hypoplasia with deep linear grooves and pits. Whole-exome sequencing of both probands identified novel heterozygous mutations in the last exon of LAMB3 that likely truncated the protein. The mutations perfectly segregated with the enamel defects in both families. In Family 1, an 8-bp deletion (c.3446_3453del GACTGGAG) shifted the reading frame (p.Gly 1149Glufs*8). In Family 2, a single nucleotide substitution (c.C3431A) generated an in-frame translation termination codon (p.Ser1144*). We conclude that enamel formation is particularly sensitive to defects in hemidesmosome/basement-membrane complexes and that syndromic and non-syndromic forms of AI can be etiologically related.
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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.