ArticleAnnals of translational medicine2021
Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novel
Article in Annals of translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
9 citing papers in PubMed, 2 syntheses or guidelines pooled it, 17 citations in OpenAlex.
- Flow Cytometry Illuminates Dental Stem Cells: a Systematic Review of Immunomodulatory and Regenerative Breakthroughs.Stem cell reviews and reports · 2025Pooled it
- The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2025Pooled it
- Beyond the diagnosis: UnravelingThe Japanese dental science review · 2026Review
- [Case report of dentinogenesis imperfecta and review of literature].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2025Review
- A family study of dentinogenesis imperfecta shields type II caused by a novel DSPP mutation and investigations on the isolated stem cells from human exfoliated deciduous teeth.BMC oral health · 2025Article
- Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.Frontiers in cell and developmental biology · 2024Review
- Regenerative Endodontic Treatment in Dentinogenesis Imperfecta-Induced Apical Periodontitis.Case reports in dentistry · 2024Article
- 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
- Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDentinogenesis imperfecta (DGI), Shields type-II is an autosomal dominant genetic disease which severely affects the function of the patients' teeth. The dentin sialophosphoprotein (
methodsClinical data were collected, whole exome sequencing (WES) was conducted, and Sanger sequencing was used to verify the mutation sites. Physical characteristics of the patient's teeth were examined using scanning electron microscopy (SEM) and energy dispersive spectroscopy (EDS). The localization of green fluorescent protein (GFP)-fused wild-type (WT) dentin sialoprotein (DSP) and its variant were evaluated via an immunocytochemistry (ICC) assay. The behaviors of human dental pulp stem cells (hDPSCs) were investigated by flow cytometry, osteogenic differentiation, and quantitative real-time polymerase chain reaction (qRT-PCR).
resultsA novel heterozygous mutation c.53T > G (p. Val18Gly) in
conclusionsThe c.53T > G (p. Val18Gly)
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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.