The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)最新文献

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Salivary Short-chain Fatty Acids (SCFAs) Are Viable Predictors of Early Changes in Systemic Health. 唾液短链脂肪酸 (SCFA) 是全身健康早期变化的可行预测因子
Bina Kashyap, Eelis Hyvärinen, Arja M Kullaa
{"title":"Salivary Short-chain Fatty Acids (SCFAs) Are Viable Predictors of Early Changes in Systemic Health.","authors":"Bina Kashyap, Eelis Hyvärinen, Arja M Kullaa","doi":"10.3290/j.cjdr.b5698392","DOIUrl":"10.3290/j.cjdr.b5698392","url":null,"abstract":"<p><p>Short-chain fatty acids (SCFAs) are the metabolites identified in both the oral cavity and the gut. They play an important role in the triggering, development and progression of systemic diseases. SCFAs can alter the gut microbial components, intestinal epithelium and host immune system, and are also associated with cancer incidence. Salivary SCFAs, produced by the oral microbiome, are correlated with some oral diseases. The occurrence of systemic diseases associated with gut SCFAs is more clearly defined than oral SCFAs. Salivary SCFAs can enter the bloodstream directly via inflamed gingiva to cause continuous low-grade systemic inflammation. Hence, salivary SCFAs could be an indicator for the early diagnosis of systemic diseases. Furthermore, they provide a basis for understanding the oral-systemic axis driven through salivary SCFAs in the pathogenesis of several diseases.</p>","PeriodicalId":74983,"journal":{"name":"The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)","volume":"27 3","pages":"193-202"},"PeriodicalIF":0.0,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142115784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preservation of Pulp Vitality in Type IIIA Dens Invaginatus with an Extensive Peri-invagination Lesion: a case Report with 5-year Follow-up. 保留牙髓活力的 IIIA 型畸形牙(伴有广泛的牙周病变):一份为期 5 年的病例随访报告。
Fei Lin, Lin Yue
{"title":"Preservation of Pulp Vitality in Type IIIA Dens Invaginatus with an Extensive Peri-invagination Lesion: a case Report with 5-year Follow-up.","authors":"Fei Lin, Lin Yue","doi":"10.3290/j.cjdr.b5459617","DOIUrl":"10.3290/j.cjdr.b5459617","url":null,"abstract":"<p><p>Dens invaginatus may be associated with peri-invagination lesions and vital pulp concurrently. This case report examines the successful preservation of vital pulp and minimally invasive treatment of invagination for Oehlers type IIIA dens invaginatus with an extensive peri-invagination lesion. A healthy 19-year-old man presented with occasional swelling of the left maxillary anterior region. Pulp vitality tests revealed vital and healthy tooth pulp. CBCT indicated Oehlers type IIIA dens invaginatus with an invagination parallel to the pulp cavity. The diagnosis was type IIIA dens invaginatus with a peri-invagination lesion. The treatment plans involved preservation of the vital pulp and minimally invasive treatment of the invagination. A 5-year follow-up revealed that both healing of the peri-invagination lesion and preservation of the vital pulp had been successful. Pulp vitality can be preserved in type IIIA dens invaginatus associated with a peri-invagination lesion through minimally invasive treatment of the invagination.</p>","PeriodicalId":74983,"journal":{"name":"The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)","volume":"27 2","pages":"175-182"},"PeriodicalIF":0.0,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sustained Release of Liposomal Curcumin: Enhanced Periodontal Outcomes in Diabetic Patients. 姜黄素脂质体的持续释放:增强糖尿病患者的牙周疗效。
Ahmed Abdallah Khalil, Eman Alaaeldin
{"title":"Sustained Release of Liposomal Curcumin: Enhanced Periodontal Outcomes in Diabetic Patients.","authors":"Ahmed Abdallah Khalil, Eman Alaaeldin","doi":"10.3290/j.cjdr.b5459607","DOIUrl":"10.3290/j.cjdr.b5459607","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the effect of entrapment of curcumin within liposomal formulation and the sustained release attitude of the formulated liposomal gel on periodontal defects in diabetic patients in clinical and biochemical terms.</p><p><strong>Methods: </strong>Thirty diabetic patients with periodontitis were randomly assigned to three equal groups and ten healthy participants were assigned as the control group. Group I was subjected to scaling and root planing (SRP) with application of sustained release liposomal curcumin gel. Group II was subjected to scaling and root planning with application of curcumin gel. Group III was subjected to scaling and root planning with application of placebo gel. Group IV (control group), no intervention was done. The following parameters were evaluated before treatment and after 6 and 12 weeks: plaque index (PI), gingival index (GI), probing depth (PD), clinical attachment level (CAL), tumour necrosis factor alpha (TNF-α), interleukin 1 beta (IL-1β) and total antioxidant capacity (TAC).</p><p><strong>Results: </strong>All study groups showed improvement in clinical and biochemical parameters that are statistically significant. Upon comparing the results of treatment modalities, the highest improvement was achieved in group I followed by group II then group III.</p><p><strong>Conclusion: </strong>Sustained release liposomal curcumin gel enhanced the antioxidant capacity, decreased the inflammatory mediators and showed more improvement in clinical outcome for treatment of periodontitis in diabetic patients.</p>","PeriodicalId":74983,"journal":{"name":"The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)","volume":"27 2","pages":"169-174"},"PeriodicalIF":0.0,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Extracellular Matrix Remodelling of the Periodontium under Orthodontic Force. 正畸力作用下牙周细胞外基质的重塑
Qian Yao Yu, Yi Ping Huang, Wei Ran Li
{"title":"Extracellular Matrix Remodelling of the Periodontium under Orthodontic Force.","authors":"Qian Yao Yu, Yi Ping Huang, Wei Ran Li","doi":"10.3290/j.cjdr.b5459583","DOIUrl":"https://doi.org/10.3290/j.cjdr.b5459583","url":null,"abstract":"<p><p>As the biological mechanisms of orthodontic tooth movement have been explored further, scholars have gradually focused on the remodelling mechanism of the extracellular matrix (ECM) in the periodontal ligament (PDL). The ECM of the PDL consists of various types of collagens and other glycoproteins. The specific process and mechanism of ECM remodelling during orthodontic tooth movement remains unclear. Collagen I and III, which constitute major components of the PDL, are upregulated under orthodontic force. The changes in the contents of ECM proteins also depend on the expression of ECM-related enzymes, which organise new collagen fibre networks to adapt to changes in tooth position. The matrix metalloproteinase family is the main enzyme that participates in collagen hydrolysis and renewal and changes its expression under orthodontic force. Moreover, ECM adhesion molecules, such as integrins, are also regulated by orthodontic force and participate in the dynamic reaction of cell adhesion and separation with the ECM. This article reviews the changes in ECM components, related enzymes and adhesion molecules in the PDL under orthodontic force to lay the foundation for the exploration of the regulatory mechanism of ECM remodelling during orthodontic tooth movement.</p>","PeriodicalId":74983,"journal":{"name":"The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)","volume":"27 2","pages":"121-131"},"PeriodicalIF":0.0,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of Different Adhesive Resin and Composite Veneering Materials on Adhesion to Polyetheretherketone. 不同粘合树脂和复合贴面材料对聚醚醚酮粘合力的影响
Sezgi Cinel Sahin, Lamia Mutlu-Sagesen, Isil Karaokutan, Mutlu Ozcan
{"title":"Effect of Different Adhesive Resin and Composite Veneering Materials on Adhesion to Polyetheretherketone.","authors":"Sezgi Cinel Sahin, Lamia Mutlu-Sagesen, Isil Karaokutan, Mutlu Ozcan","doi":"10.3290/j.cjdr.b5459601","DOIUrl":"https://doi.org/10.3290/j.cjdr.b5459601","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the effect of different adhesives and veneering resins on the shear bond strength (SBS) of polyetheretherketone (PEEK).</p><p><strong>Methods: </strong>A total of 138 PEEK specimens were randomly divided into 6 groups according to adhesive material application: Control (C, no application), Adhese Universal (A) (Ivoclar Vivadent, Schaan, Liechtenstein), Gluma Bond Universal (G) (Heraeus Kulzer, South Bend, IN, USA), G-PremioBOND (P) (GC Corporation, Tokyo, Japan), Single Bond Universal (S) (3M, Saint Paul, MN, USA) and visio.link (V) (Bredent, Senden, Germany). Each adhesive group was divided into two subgroups according to the type of veneering material: Estenia direct composite (D) and Gradia Plus indirect composite (IN) (both GC Corporation). After the veneering process, the specimens were aged by thermal cycling. Kruskal-Wallis and Mann-Whitney U tests were used for SBS analysis (P < 0.05).</p><p><strong>Results: </strong>The highest SBS results were obtained in the VIN group, followed by the VD, PD, GIN, AIN, AD, SIN, SD, PIN, GD, CIN and CD groups, respectively (P = 0.001). There were no significant differences in terms of the type of veneering composite when the same adhesive was applied (P > 0.05), except for Gluma Bond Universal (P = 0.009). All the adhesives tested showed clinically acceptable SBS results.</p><p><strong>Conclusion: </strong>Visio.link offered the highest adhesion to PEEK, whereas the tested universal adhesives may be used as an alternative to visio.link in clinical settings. It was determined that changing the veneer type has no statistical difference when the same adhesive material is used.</p>","PeriodicalId":74983,"journal":{"name":"The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)","volume":"27 2","pages":"161-168"},"PeriodicalIF":0.0,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of Cuproptosis-related Gene Lipoyltransferase 1 as a Promising Biomarker in Oral Squamous Cell Carcinoma. 鉴定杯突相关基因脂酰基转移酶 1 是口腔鳞状细胞癌中一种有前途的生物标记物
Kuang Min Shen, Yu Meng Zhou, Mu Chun Liang, De Mao Zhang, Qiang Wei, Yi Lin Ping
{"title":"Identification of Cuproptosis-related Gene Lipoyltransferase 1 as a Promising Biomarker in Oral Squamous Cell Carcinoma.","authors":"Kuang Min Shen, Yu Meng Zhou, Mu Chun Liang, De Mao Zhang, Qiang Wei, Yi Lin Ping","doi":"10.3290/j.cjdr.b5459587","DOIUrl":"10.3290/j.cjdr.b5459587","url":null,"abstract":"<p><strong>Objective: </strong>To find efficient cuproptosis-related biomarkers to explore the oncogenesis and progression of oral squamous cell carcinoma (OSCC).</p><p><strong>Methods: </strong>All the original data were downloaded from the Cancer Genome Atlas (TCGA) database. Univariate Cox analysis and Kaplan-Meier survival analysis were used to identify the gene related to survival. Tumor Immune Estimation Resource 2.0 (TIMER 2.0) was used to reveal the different expression of cuproptosis-related gene lipoyltransferase 1 (LIPT1) in various kinds of tumours.</p><p><strong>Results: </strong>LIPT1, as a cuproptosis-related gene, was found to be differentially expressed in the OSCC group and the control group. It was also found to be related to the prognosis of OSCC. Pan cancer analysis showed LIPT1 was also involved in various kinds of tumours.</p><p><strong>Conclusion: </strong>All the results demonstrate that the cuproptosis-related gene LIPT1 is highly involved in the oncogenesis and progression of OSCC. These findings give new insight for further research into the cuproptosis-related biomarkers in OSCC.</p>","PeriodicalId":74983,"journal":{"name":"The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)","volume":"27 2","pages":"133-141"},"PeriodicalIF":0.0,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dental Fear and Caries in 6- to 12-Year-Old Children: a Systematic Review and Meta-analysis. 6 至 12 岁儿童的牙科恐惧与龋齿:系统回顾与元分析》(Dental Fear and Caries in 6 to 12-Year-Old Children: a Systematic Review and Meta-analysis)。
Narjes Amrollahi, Sayed Ali Shahshahan, Firoozeh Nilchian, Mohammad Javad Tarrahi
{"title":"Dental Fear and Caries in 6- to 12-Year-Old Children: a Systematic Review and Meta-analysis.","authors":"Narjes Amrollahi, Sayed Ali Shahshahan, Firoozeh Nilchian, Mohammad Javad Tarrahi","doi":"10.3290/j.cjdr.b5459595","DOIUrl":"10.3290/j.cjdr.b5459595","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the relationship between dental fear and dental caries in children aged 6 to 12 years in a systematic review and meta-analysis.</p><p><strong>Methods: </strong>Systematic review search terms were selected according to medical subject headings (MeSH) or non-MeSH. An electronic search of studies published in English assessing the relationship between dental fear (children's fear survey schedule-dental subscale) and dental caries (DMFT or dmft index) was carried out of the Scopus, Web of Science, PubMed, Embase, Cochrane and Proquest databases up to March 2022. Of 5,759 articles retrieved initially, 16 were eligible for inclusion in the study, and 5 of these were included in the quantitative analysis. The quality of studies was evaluated based on the Newcastle-Ottawa scale. Begg tests were employed to assess the publication bias.</p><p><strong>Results: </strong>According to the meta-analysis, the results revealed no statistically significant difference in mean of DMFT score in low and high fear score groups, with a mean difference of 1.28 (95% confidence interval -0.132 to 2.693) (P = 0.076). A statistically significant difference was found in the mean dmft score for the low and high fear score groups, with a mean difference of 0.227 (95% confidence interval 0.058 to 0.395) (P = 0.008). The mean dmft was significantly higher in the high fear score group.</p><p><strong>Conclusion: </strong>Dental fear has a significant relationship with caries in primary teeth, but not in permanent teeth.</p>","PeriodicalId":74983,"journal":{"name":"The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)","volume":"27 2","pages":"151-159"},"PeriodicalIF":0.0,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of Dental Implant System-Assisted Tooth Intentional Replantation in the Treatment of Anterior Teeth with Pathological Tooth Flaring, Drifting and Elongation in Patients with Stage III/IV Periodontitis: a Case Series. 牙周炎 III/IV 期患者前牙病理性牙齿外翻、漂移和伸长的病例系列之种植牙系统辅助牙齿意向性再植的治疗效果:一个病例系列。
Ya Hui Qiao, Xin Yu Zhang, Rui Qi Bai, Jing Wen Cai, Lin Lin Zhang, Bin Jie Liu, Jun Chen
{"title":"Effect of Dental Implant System-Assisted Tooth Intentional Replantation in the Treatment of Anterior Teeth with Pathological Tooth Flaring, Drifting and Elongation in Patients with Stage III/IV Periodontitis: a Case Series.","authors":"Ya Hui Qiao, Xin Yu Zhang, Rui Qi Bai, Jing Wen Cai, Lin Lin Zhang, Bin Jie Liu, Jun Chen","doi":"10.3290/j.cjdr.b5459589","DOIUrl":"https://doi.org/10.3290/j.cjdr.b5459589","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical effect of implant-assisted dental intentional replantation (IR) for the treatment of \"drifted\" anterior periodontally hopeless teeth (PHT).</p><p><strong>Methods: </strong>The present authors recruited 22 patients with stage III/IV periodontitis who suffered drifting of the maxillary anterior teeth, with a total of 25 teeth. The PHT were extracted for in vitro root canal treatment (RCT). The root surface was smoothed and the shape was trimmed, and the alveolar socket was scratched. The dental implant system was used to prepare the alveolar socket according to the direction, depth and shape of the tooth implantation. The PHT were reimplanted into the prepared alveolar socket. The periodontal indicators were analysed statistically before and after surgery.</p><p><strong>Result: </strong>Twenty-two patients who completed the full course of treatment, with a total of 25 PHT, had a successful retention rate of 88%. Mean periodontal probing depth (PPD) decreased by 2.880 ± 0.556 mm and 3.390 ± 0.634 mm at 6 months and 1 year, respectively, and clinical attachment loss (CAL) decreased by 2.600 ± 0.622 mm and 2.959 ± 0.731 mm at the same time points, respectively, showing significant improvement (P < 0.05).</p><p><strong>Conclusion: </strong>Dental implant system-assisted IR can effectively preserve \"drifted\" natural PHT in patients with stage III/IV periodontitis.</p>","PeriodicalId":74983,"journal":{"name":"The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)","volume":"27 2","pages":"143-149"},"PeriodicalIF":0.0,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hub Genes, Possible Pathways and Predicted Drugs in Hereditary Gingival Fibromatosis by Bioinformatics Analysis. 通过生物信息学分析研究遗传性牙龈纤维瘤病的枢纽基因、可能途径和预测药物。
Rong Xia Yang, Fan Shi, Shu Ning Du, Xin Yu Luo, Wan Qing Wang, Zhi Lu Yuan, Dong Chen
{"title":"Hub Genes, Possible Pathways and Predicted Drugs in Hereditary Gingival Fibromatosis by Bioinformatics Analysis.","authors":"Rong Xia Yang, Fan Shi, Shu Ning Du, Xin Yu Luo, Wan Qing Wang, Zhi Lu Yuan, Dong Chen","doi":"10.3290/j.cjdr.b5128671","DOIUrl":"10.3290/j.cjdr.b5128671","url":null,"abstract":"<p><strong>Objective: </strong>To explore potential pathogenic processes and possible treatments using unbiased and reliable bioinformatic tools.</p><p><strong>Methods: </strong>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. Finally, five genes related to cell junctions were selected to build gene-miRNA interactions and predict small-molecule drugs.</p><p><strong>Results: </strong>A total of 342 downregulated genes and 188 upregulated genes were detected. Candidate pathways include the extracellular matrix (ECM) receptor interaction pathway, the TGF-β signalling pathway and the cell adhesion molecule (CAM) pathway, which were discovered through KEGG and GSEA enrichment studies. GO analyses revealed that these DEGs were significantly enriched in cell adhesion, the adherens junction and focal adhesion. Five hub genes (CDH1, SNAP25, RAC2, APOE and ITGB4) associated with cell adhesion were identified through PPI analysis. Finally, the gene-miRNA regulatory network identified three target miRNAs: hsa-miR-7110-5p, hsa-miR-149-3p and hsa-miR-1207-5p. Based on the gene expression profile, the small-molecule drugs zebularine, ecuronium and prostratin were selected for their demonstrated binding activity when docked with the mentioned molecules.</p><p><strong>Conclusion: </strong>This study offered some novel insights into molecular pathways and identified five hub genes associated with cell adhesion. Based on these hub genes, three potential therapeutic miRNAs and small-molecule drugs were predicted, which are expected to provide guidance for the treatment of patients with HGF.</p>","PeriodicalId":74983,"journal":{"name":"The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)","volume":"27 1","pages":"101-109"},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features. FAM20A相关成髓不全症:具有功能验证和组织学特征的基因变异。
Jia Nan Ding, Miao Yu, Hao Chen Liu, Kai Sun, Jing Wang, Xiang Liang Xu, Yang Liu, Dong Han
{"title":"FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features.","authors":"Jia Nan Ding, Miao Yu, Hao Chen Liu, Kai Sun, Jing Wang, Xiang Liang Xu, Yang Liu, Dong Han","doi":"10.3290/j.cjdr.b5136761","DOIUrl":"10.3290/j.cjdr.b5136761","url":null,"abstract":"<p><strong>Objective: </strong>To investigate FAM20A gene variants and histological features of amelogenesis imperfecta and to further explore the functional impact of these variants.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>The authors identified two nonsense variants c. 406C > T (p.Arg136*) and c.826C > T (p.Arg176*) in a compound heterozygous state in family 1, two novel frameshift variants c.936dupC (p.Val313Argfs*67) and c.1483dupC (p.Leu495Profs*44) in a compound heterozygous state in family 2, and a novel homozygous frameshift variant c.530_531insGGTC (p.Ser178Valfs*21) in family 3. The enamel structure was abnormal, and psammomatoid calcifications were identified in both the gingival mucosa and dental follicle. The bioinformatics and subcellular localisation analyses indicated these variants to be pathogenic. The secondary and tertiary structure analysis speculated that these five variants would cause structural damage to FAM20A protein.</p><p><strong>Conclusion: </strong>The present results broaden the variant spectrum and clinical and histological findings of diseases associated with FAM20A, and provide useful information for future genetic counselling and functional investigation.</p>","PeriodicalId":74983,"journal":{"name":"The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA)","volume":"27 1","pages":"53-63"},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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