ArticleHuman molecular genetics2020
A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- Construction and validation of risk prediction model for glioblastoma associated with cancer stem cells and disulfidptosis.Translational cancer research · 2026Article
- Expert consensus on the diagnosis and management of tooth developmental anomalies.International journal of oral science · 2026Review
- Antisense oligonucleotides-mediated rescue of theJournal of dental sciences · 2026Article
- Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing.Molecular genetics & genomic medicine · 2025Article
- Review
- Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.Clinical oral investigations · 2023Article
- Review
- Article
- Revisiting ameloblastin; addressing the EMT-ECM axis above and beyond oral biology.Frontiers in cell and developmental biology · 2023Article
- Integration of multimodal data in the developing tooth reveals candidate regulatory loci driving human odontogenic phenotypes.Frontiers in dental medicine · 2022Article
- A Novel De NovoGenes · 2021Article
- Transcriptional Regulation of Dental Epithelial Cell Fate.International journal of molecular sciences · 2020Review
- Construction and Analysis of the Tumor-Specific mRNA-miRNA-lncRNA Network in Gastric Cancer.Frontiers in pharmacology · 2020Article
- Bcl11b/Ctip2 in Skin, Tooth, and Craniofacial System.Frontiers in cell and developmental biology · 2020Review
- Gingival inflammation, enamel defects, and tooth sensitivity in children with amelogenesis imperfecta: a case-control study.Journal of applied oral science : revista FOB · 2020Article
- AnFrontiers in physiology · 2020Article
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 1 country.
Funding
Abstract
Amelogenesis is the process of enamel formation. For amelogenesis to proceed, the cells of the inner enamel epithelium (IEE) must first proliferate and then differentiate into the enamel-producing ameloblasts. Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective or absent tooth enamel. We identified a 2 bp variant c.817_818GC>AA in SP6, the gene encoding the SP6 transcription factor, in a Caucasian family with autosomal dominant hypoplastic AI. The resulting missense protein change, p.(Ala273Lys), is predicted to alter a DNA-binding residue in the first of three zinc fingers. SP6 has been shown to be crucial to both proliferation of the IEE and to its differentiation into ameloblasts. SP6 has also been implicated as an AI candidate gene through its study in rodent models. We investigated the effect of the missense variant in SP6 (p.(Ala273Lys)) using surface plasmon resonance protein-DNA binding studies. We identified a potential SP6 binding motif in the AMBN proximal promoter sequence and showed that wild-type (WT) SP6 binds more strongly to it than the mutant protein. We hypothesize that SP6 variants may be a very rare cause of AI due to the critical roles of SP6 in development and that the relatively mild effect of the missense variant identified in this study is sufficient to affect amelogenesis causing AI, but not so severe as to be incompatible with life. We suggest that current AI cohorts, both with autosomal recessive and dominant disease, be screened for SP6 variants.
Indexed as
Identifiers
What OpenQuestion holds
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.