Chinese Journal of Dental Research

OBJECTIVE: To explore potential pathogenic processes and possible treatments using unbiased and reliable bioinformatic tools. METHODS: Gene expression profiles of control and hepatocyte growth factor (HGF) samples were downloaded from CNP0000995. Analysis of differentially expressed genes (DEGs) was conducted using R software (version 4.2.1, R Foundation, Vienna, Austria). Functional enrichment analyses were performed using the Gene Ontology (GO), Kyoto Encyclopaedia of Genes and Genomes (KEGG) and Gene Set Enrichment Analysis (GSEA) databases, then the proteinprotein interaction (PPI) network was constructed to screen the top 10 hub genes...

OBJECTIVE: To explore the genetic background and clinical phenotypes of multiple idiopathic cervical root resorption (MICRR) in a Chinese family. METHODS: The proband and his three family members were clinically examined and had radiographs taken with a radiovisiography (RVG) system and CBCT to define the diagnosis of MICRR. Genomic DNA (gDNA) was extracted from peripheral blood samples of the patient, his father, mother and younger sister for whole exome sequencing (WES)...

OBJECTIVE: To analyse the aetiology and pathogenesis of Gorlin-Goltz syndrome (GS; also known as nevoid basal cell carcinoma syndrome [NBCCS] or basal cell nevus syndrome [BCNS]) in a Chinese family. METHODS: Whole-exome sequencing (WES) was performed on genomic DNA samples from the subjects in a family, followed by the investigation of pathogenesis via bioinformatic approaches and conformational analysis. RESULTS: A novel heterozygous non-frameshift deletion patched 1 (PTCH1) [NM_000264: c...

OBJECTIVE: To provide a comprehensive overview of the current knowledge structure and research hotspots of Cowden syndrome via bibliometrics. METHODS: The articles and reviews related to Cowden syndrome were included from the Web of Science Core Collection (WoSCC) database. VOSviewer, CiteSpace and GraphPad Prism were used to conduct the bibliometric analysis. RESULTS: The number of papers focusing on Cowden syndrome was relatively low initially but increased rapidly from 1997 to 1999, and then maintained small-scale fluctuation...

OBJECTIVE: To provide novel insights into the aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) by integrating multi-omics data and exploring susceptibility genes associated with NSCL/P. METHODS: A two-stage genome-wide association study (GWAS) of NSCL/P was performed, involving a total of 1,069 cases and 1,724 controls. Using promoter capture Hi-C (pCHi-C) datasets in human embryonic stem cells (hESC) and chromatin immunoprecipitation sequencing (ChIP-seq) in craniofacial tissues, we filtered out single nucleotide polymorphisms (SNPs) with active cis-regulation and their target genes...

OBJECTIVE: To investigate FAM20A gene variants and histological features of amelogenesis imperfecta and to further explore the functional impact of these variants. METHODS: Whole-exome sequencing (WES) and Sanger sequencing were used to identify pathogenic gene variants in three Chinese families with amelogenesis imperfecta. Bioinformatics analysis, in vitro histological examinations and experiments were conducted to study the functional impact of gene variants, and the histological features of enamel, keratinised oral mucosa and dental follicle...

MN1 C-terminal truncation (MCTT) syndrome was first reported in 2020 and only 28 patients have been recorded to date. Since MCTT syndrome is a newly defined and rare syndrome with many clinical features, the present study reviewed the manifestations and management of oral and dental anomalies. Gene variants of MCTT syndrome and their positive phenotypes were summarised. The phenotypes of variants in two exons differed from each other mainly in the craniomaxillofacial region, including brain MRI abnormalities and palatal morphology...

Coordination and information exchange among the various organelles ensure the precise and orderly functioning of eukaryotic cells. Interaction between the cytoplasm and nucleoplasm is crucial for many physiological processes. Macromolecular protein transport into the nucleus requires assistance from the nuclear transport system. These proteins typically contain a nuclear localisation sequence that guides them to enter the nucleus. Understanding the mechanism of nuclear import of macromolecular proteins is important for comprehending cellular processes...

Non-syndromic orofacial clefts (NSOCs) are the most common craniofacial malformation. In the complex aetiology and pathogenesis of NSOCs, genetic factors play a crucial role and IRF6, located at chromosome 1q32.2, is the best documented NSOC susceptibility gene. IRF6 is a key factor in oral maxillofacial development and known to contribute the most in NSOCs. It is essential to conduct a complete review of the existing results on IRF6 to further understand its role in the pathogenesis of NSOCs. Thus, the present authors summarised the research progress on the mechanism of IRF6 in NSOCs from both genetic and functional perspectives in this review...

The dentine sialophosphoprotein (DSPP) gene is the only identified causative gene for dentinogenesis imperfecta type 2 (DGI-II), dentinogenesis imperfecta type 3 (DGI-III) and dentine dysplasia type 2 (DD-II). These three disorders may have similar molecular mechanisms involved in bridging the DSPP mutations and the resulting abnormal dentine mineralisation. The DSPP encoding proteins DSP (dentine sialoprotein) and DPP (dentine phosphoprotein) are positive regulators of dentine formation and perform a function during dentinogenesis...

The theme of the academic annual conferences held by the Chinese Stomatological Association from 2021 to 2023 was "Protecting Natural Teeth to Maintain Oral Health" and coincided with the 24th Winter Olympic Games that took place in Beijing in 2022, and thus prevention of oral and maxillofacial trauma once again attracted the attention of stomatological experts and the public. The incidence of oral and maxillofacial trauma caused by sports is around 25% to 34%1-5, and varies based on the type of sport and other factors, such as age, sex and the skill level of the participants...

Oral health is an important component of general health, and oral disease is one of the most common human diseases that not only affects oral health and quality of life, but is also closely associated with overall health. Natural teeth are important functional organs and are crucial to oral functions and maintaining a healthy life. The Chinese Stomatological Association (CSA) has released this position statement on "Preserving Natural Teeth to Maintain Oral Health", which is one of the most important achievements of the 2021 to 2023 CSA Annual Congress themed "Healthy Mouth, Protecting Natural Teeth", advocating that everyone should take effective measures to protect their natural teeth, maintain oral health and promote general health...

No abstract text is available yet for this article.

Oral submucous fibrosis (OSF) is a chronic, progressive and potentially malignant oral mucosal disease. Patients often have a habit of chewing betel nuts. Areca catechu has been listed as a Class 1 carcinogen by the International Agency for Research on Cancer (IARC), and its main active component, arecoline, is classified as a Group 2B carcinogen by the IARC. The World Health Organization (WHO) categorises OSF as an oral potentially malignant disorder (OPMD). The present guideline describes the risk factors, clinical symptoms and clinical signs of OSF...

Renal cell carcinoma (RCC) is often diagnosed in advanced stages and a third of patients have distant metastasis at diagnosis. Metastasis may be the first evidence of clear cell RCC in many cases. RCC most often metastasises to the lung, liver, bone, brain and thyroid; however, metastatic disease to the oral cavity, especially the mandible, is rare. The purpose of this study is to report a case of clear cell RCC metastatic to the mandible and review the literature. The mandible lesion underwent radical excision in this case...

OBJECTIVE: To evaluate the effects of powered and manual tooth brushing on gingival inflammation in a Chinese population with mild to moderate gingivitis. METHODS: The present randomised, single-blind, parallel clinical trial was conducted in five cities in China. Generally healthy participants aged 18 to 65 years, who were non-smokers and had at least 20 sites of gingival bleeding, were included as eligible subjects. The subjects were randomly assigned to either the powered tooth brushing (PTB) group or standard manual tooth brushing (MTB) group...

OBJECTIVE: To compare calcium silicate-based endodontic sealer and epoxy resin-based sealer remnants on root canal walls after post space preparation and their influence on the bond strength of fibre posts fixed with a dual-cured resin cement. METHODS: Thirty-six extracted single-root mandibular premolars were instrumented and divided randomly into two equal groups with different endodontic sealers. iRoot SP (Innovative BioCeramix, Vancouver, Canada) was employed in the experimental group and AH Plus (Dentsply Sirona, Charlotte, NC, USA) was used in the control group...

OBJECTIVE: To construct a cellular senescence-related DNA methylation model to act as an independent prognosis predictor for patients with head and neck squamous cell carcinoma (HNSCC). METHODS: Methylome, transcriptome and clinical information for 499 HNSCC patients were received from The Cancer Genome Atlas (TCGA) as a training set. An extra independent methylation dataset of 54 patients with oral squamous cell carcinoma (OSCC) was downloaded from the NCBI Gene Expression Omnibus (GEO) database as the validation set...

OBJECTIVE: To radiographically evaluate the effect of intact periosteum in guided bone regeneration (GBR) for the treatment of peri-implant ridge defects in posterior region. METHODS: Twenty-eight patients who satisfied the criteria were included in this study. Buccal dehiscence defects were regenerated using demineralised bovine bone mineral (DBBM). Subjects were divided into two groups: the control group (conventional GBR, buccal trapezoidal flap and DBBM with collagen membrane coverage, n = 14) and the test group (modified GBR, buccal pouch and DBBM with collagen membrane coverage, n = 14)...

Birth defects have always been one of the most important diseases in medical research as they affect the quality of the birth population. Orofacial clefts (OFCs) are common birth defects that place a huge burden on families and society. Early screening and prevention of OFCs can promote better natal and prenatal care and help to solve the problem of birth defects. OFCs are the result of genetic and environmental interactions; many genes are involved, but the current research has not clarified the specific pathogenesis...