ArticleHuman molecular genetics2014
A missense mutation in ITGB6 causes pitted hypomineralized 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 34 papers.
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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
34 citing papers in PubMed, 56 citations in OpenAlex.
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- A novelJournal of dental sciences · 2024Article
- Genome-wide associations with longevity and reproductive traits in U.S. rangeland ewes.Frontiers in genetics · 2024Article
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- A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.Molecular genetics & genomic medicine · 2022Article
- Recessive Mutations inJournal of dental research · 2022Article
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- Toward diagnostic relevance of the αBone research · 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
- Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.International journal of oral science · 2018Article
- Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.Journal of dental research · 2018Article
- DLX3-Dependent Regulation of Ion Transporters and Carbonic Anhydrases is Crucial for Enamel Mineralization.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2017Article
- Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Frontiers in physiology · 2017Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated in an autosomal recessive fashion. Whole-exome sequencing revealed a missense mutation (c.586C>A, p.P196T) in the I-domain of integrin-β6 (ITGB6), which is consistently predicted to be pathogenic by all available programmes and is the only variant that segregates with the disease phenotype. Furthermore, a recent study revealed that mice lacking a functional allele of Itgb6 display a hypomaturation AI phenotype. Phenotypic characterization of affected human teeth in this study showed areas of abnormal prismatic organization, areas of low mineral density and severe abnormal surface pitting in the tooth's coronal portion. We suggest that the pathogenesis of this form of AI may be due to ineffective ligand binding of ITGB6 resulting in either compromised cell-matrix interaction or compromised ITGB6 activation of transforming growth factor-β (TGF-β) impacting indirectly on ameloblast-ameloblast interactions and proteolytic processing of extracellular matrix proteins via MMP20. This study adds to the list of genes mutated in AI and further highlights the importance of cell-matrix interactions during enamel formation.
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Registered trials
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