ArticleInternational journal of oral science2021
Novel MSX1 variants identified in families with nonsyndromic oligodontia.
Article in International journal of oral science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- The genetic basis of tooth impaction: a systematic review.Clinical oral investigations · 2025Pooled it
- NovelChildren (Basel, Switzerland) · 2024Article
- Article
- Article
- Tooth agenesis patterns and variants inThe Japanese dental science review · 2023Review
- Orthodontic Treatment of Palatally Impacted Canines in Severe Non-Syndromic Oligodontia with the Use of Mini-Implants: A Case Report.Medicina (Kaunas, Lithuania) · 2023Article
- FGFR1 variants contributed to families with tooth agenesis.Human genomics · 2023Article
- Global Trends and Hotspots in Research on Tooth Agenesis: A 20-Year Bibliometric Analysis.Cureus · 2023Review
- Tooth number abnormality: from bench to bedside.International journal of oral science · 2023Review
- Genotype-phenotype pattern analysis of pathogenicFrontiers in genetics · 2023Article
- Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants.Journal of applied oral science : revista FOB · 2023Article
- Dose Dependence Effect in BiallelicDiagnostics (Basel, Switzerland) · 2022Article
- A NovelDiagnostics (Basel, Switzerland) · 2022Article
- Article
- Genome-Wide Association of New-Onset Hypertension According to Renin Concentration: The Korean Genome and Epidemiology Cohort Study.Journal of cardiovascular development and disease · 2022Article
- Genome-Wide CRISPR/Cas9-Based Screening for Deubiquitinase Subfamily Identifies Ubiquitin-Specific Protease 11 as a Novel Regulator of Osteogenic Differentiation.International journal of molecular sciences · 2022Article
- Successful treatment modalities for missing lateral incisors- A systematic review.The Saudi dental journal · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The goal of this study was to identify MSX1 gene variants in multiple Chinese families with nonsyndromic oligodontia and analyse the functional influence of these variants. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify the causal gene variants in five families with nonsyndromic oligodontia, and a series of bioinformatics databases were used for variant confirmation and functional prediction. Phenotypic characterization of the members of these families was described, and an in vitro analysis was performed for functional evaluation. Five novel MSX1 heterozygous variants were identified: three missense variants [c.662A>C (p.Q221P), c.670C>T (p.R224C), and c.809C>T (p.S270L)], one nonsense variant [c.364G>T (p.G122*)], and one frameshift variant [c.277delG (p.A93Rfs*67)]. Preliminary in vitro studies demonstrated that the subcellular localization of MSX1 was abnormal with the p.Q221P, p.R224C, p.G122*, and p.A93Rfs*67 variants compared to the wild type. Three variants (p.Q221P, p.G122*, and p.A93Rfs*67) were classified as pathogenic or likely pathogenic, while p.S270L and p.R224C were of uncertain significance in the current data. Moreover, we summarized and analysed the MSX1-related tooth agenesis positions and found that the type and variant locus were not related to the severity of tooth loss. Our results expand the variant spectrum of nonsyndromic oligodontia and provide valuable information for genetic counselling.
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.