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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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
Wearing Sports Mouthguards to Prevent Oral and Maxillofacial Trauma. 佩戴运动护齿,预防口腔和颌面创伤。
{"title":"Wearing Sports Mouthguards to Prevent Oral and Maxillofacial Trauma.","authors":"","doi":"10.3290/j.cjdr.b5139351","DOIUrl":"10.3290/j.cjdr.b5139351","url":null,"abstract":"<p><p>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. The risk of oral and maxillofacial trauma is extremely high in high-confrontation and high-speed sports, especially for children and adolescents. Wearing sports mouthguards when participating in sport is an effective way to prevent and reduce the incidence of oral and maxillofacial trauma in such sports, and is the simplest and most practical method of doing so. Sports have developed and gained in popularity significantly in China in recent years, but the awareness and use of sports mouthguards are low. Based on the above background, the Chinese Stomatological Association advocates that athletes and sport participants should wear mouthguards in various confrontational and high-speed sports, and calls on dental practitioners and sports-related organisations to actively support the popularisation and application of sports mouthguards to prevent or alleviate oral and maxillofacial trauma and to raise awareness and increase knowledge of methods to protect natural 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 1","pages":"13-15"},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308214","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
Review on the Role of IRF6 in the Pathogenesis of Non-syndromic Orofacial Clefts. 综述IRF6在非综合征性口腔裂隙发病机制中的作用
Si Di Zhang, Yue You, Mei Lin Yao, Bing Shi, Zhong Lin Jia
{"title":"Review on the Role of IRF6 in the Pathogenesis of Non-syndromic Orofacial Clefts.","authors":"Si Di Zhang, Yue You, Mei Lin Yao, Bing Shi, Zhong Lin Jia","doi":"10.3290/j.cjdr.b5128515","DOIUrl":"10.3290/j.cjdr.b5128515","url":null,"abstract":"<p><p>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.</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":"29-38"},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308212","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
Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome. MN1 C-末端截断综合征的独特颅面和口腔畸形。
Jing Jia Yu, Qiu Yi Wu, Qiu Chi Ran, Ying Ya Zhao, Lin Nan Yu, Qing Xin Cao, Xi Meng Chen, Wen Yang Li, Zhen Jin Zhao
{"title":"Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome.","authors":"Jing Jia Yu, Qiu Yi Wu, Qiu Chi Ran, Ying Ya Zhao, Lin Nan Yu, Qing Xin Cao, Xi Meng Chen, Wen Yang Li, Zhen Jin Zhao","doi":"10.3290/j.cjdr.b5128655","DOIUrl":"10.3290/j.cjdr.b5128655","url":null,"abstract":"<p><p>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. Pathogenic mechanisms, especially in craniofacial and oral anomalies, were discussed. Appropriate treatments in the stomatology and respiratory departments could improve the symptoms of MCTT syndrome. The different sites of MN1 gene variants may influence the clinical symptoms and there may be racial differences in MCTT syndrome. We recommend oral and pulmonary evaluations for the multidisciplinary treatment of MCTT syndrome.</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":"47-52"},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308174","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
Novel PTCH1 Mutation Causes Gorlin-Goltz Syndrome. 新型 PTCH1 基因突变导致戈林-戈尔茨综合征。
Hai Tang Yue, Hai Yan Cao, Miao He
{"title":"Novel PTCH1 Mutation Causes Gorlin-Goltz Syndrome.","authors":"Hai Tang Yue, Hai Yan Cao, Miao He","doi":"10.3290/j.cjdr.b5128601","DOIUrl":"10.3290/j.cjdr.b5128601","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>A novel heterozygous non-frameshift deletion patched 1 (PTCH1) [NM_000264: c.3512_3526del (p.1171_1176del)] was identified by WES and further validated by Sanger sequencing. Bioinformatic and conformational analysis showed that the mutation caused altered PTCH1 protein structure, which may be related to functional abnormalities.</p><p><strong>Conclusion: </strong>This study expands the mutation spectrum of PTCH1 in GS and facilitates the early diagnosis and screening of GS. PTCH1 [c.3512_3526del (p.1171_1176del)] may cause structural abnormalities and functional disabilities, leading to GS in families.</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":"83-88"},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308210","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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