Ya Hui Qiao, Xin Yu Zhang, Rui Qi Bai, Jing Wen Cai, Lin Lin Zhang, Bin Jie Liu, Jun Chen
Objective: To investigate the clinical effect of implant-assisted dental intentional replantation (IR) for the treatment of "drifted" anterior periodontally hopeless teeth (PHT).
Methods: 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.
Result: 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).
Conclusion: Dental implant system-assisted IR can effectively preserve "drifted" natural PHT in patients with stage III/IV periodontitis.
{"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}
Rong Xia Yang, Fan Shi, Shu Ning Du, Xin Yu Luo, Wan Qing Wang, Zhi Lu Yuan, Dong Chen
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. Finally, five genes related to cell junctions were selected to build gene-miRNA interactions and predict small-molecule drugs.
Results: 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.
Conclusion: 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.
目的利用无偏见、可靠的生物信息学工具探索潜在的致病过程和可能的治疗方法:从 CNP0000995 下载对照组和肝细胞生长因子(HGF)样本的基因表达谱。使用 R 软件(4.2.1 版,R 基金会,奥地利维也纳)对差异表达基因(DEGs)进行分析。利用基因本体(GO)、京都基因组百科全书(KEGG)和基因组富集分析(GSEA)数据库进行了功能富集分析,然后构建了蛋白质相互作用(PPI)网络,筛选出前10个枢纽基因。最后,筛选出5个与细胞连接相关的基因,以建立基因-miRNA相互作用并预测小分子药物:结果:共检测到 342 个下调基因和 188 个上调基因。候选通路包括细胞外基质(ECM)受体相互作用通路、TGF-β 信号通路和细胞粘附分子(CAM)通路。GO分析表明,这些DEGs在细胞粘附、粘附连接和局灶粘附中明显富集。通过 PPI 分析,确定了与细胞粘附相关的五个枢纽基因(CDH1、SNAP25、RAC2、APOE 和 ITGB4)。最后,基因-miRNA调控网络确定了三个靶miRNA:hsa-miR-7110-5p、hsa-miR-149-3p和hsa-miR-1207-5p。根据基因表达谱,选择了小分子药物zebularine、ecuronium和prostratin,因为它们与上述分子对接时具有明显的结合活性:本研究为分子通路提供了一些新见解,并确定了与细胞粘附相关的五个枢纽基因。结论:本研究提供了分子通路的一些新见解,并确定了与细胞粘附相关的五个枢纽基因,根据这些枢纽基因预测了三个潜在的治疗性 miRNA 和小分子药物,有望为治疗 HGF 患者提供指导。
{"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}
Jia Nan Ding, Miao Yu, Hao Chen Liu, Kai Sun, Jing Wang, Xiang Liang Xu, Yang Liu, Dong Han
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.
Results: 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.
Conclusion: 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.
目的研究FAM20A基因变异与成髓不全症的组织学特征,并进一步探讨这些变异的功能影响:方法:采用全外显子组测序(WES)和桑格测序技术在三个中国成骨不全症家族中鉴定致病基因变异。通过生物信息学分析、体外组织学检查和实验研究了基因变异的功能影响,以及釉质、口腔黏膜角化和牙囊的组织学特征:结果:作者在家族 1 中发现了两个无义变体 c. 406C > T (p.Arg136*) 和 c.826C > T (p.Arg176*),它们处于复合杂合状态;两个新型移帧变体 c.936dupC (p.Val313Argfs*67) 和 c.1483珐琅质结构异常,在牙龈粘膜和牙囊中都发现了炎性钙化。生物信息学和亚细胞定位分析表明这些变体是致病的。二级和三级结构分析推测,这五个变异体会对 FAM20A 蛋白造成结构损伤:本研究结果拓宽了与 FAM20A 相关疾病的变异谱以及临床和组织学发现,为未来的遗传咨询和功能研究提供了有用信息。
{"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}
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.
{"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}
Si Di Zhang, Yue You, Mei Lin Yao, Bing Shi, Zhong Lin Jia
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.
{"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}
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
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.
{"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}
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.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.
Conclusion: 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.
{"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}
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. Investigation of disease-related alterations can facilitate the development of novel therapeutic strategies and provide additional evidence for clinical trials. This review provides an overview of the proteins involved in nuclear transport and the mechanisms underlying macromolecular protein transport.
{"title":"Characteristic and Import Mechanism of Protein Nuclear Translocation.","authors":"Zi Yan Sun, Zhi Peng Fan","doi":"10.3290/j.cjdr.b5136729","DOIUrl":"10.3290/j.cjdr.b5136729","url":null,"abstract":"<p><p>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. Investigation of disease-related alterations can facilitate the development of novel therapeutic strategies and provide additional evidence for clinical trials. This review provides an overview of the proteins involved in nuclear transport and the mechanisms underlying macromolecular protein transport.</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":"39-46"},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308172","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}
{"title":"Editorial.","authors":"Chuan-Bin Guo","doi":"10.3290/j.cjdr.b5146731","DOIUrl":"10.3290/j.cjdr.b5146731","url":null,"abstract":"","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":"9"},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308175","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}
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.
{"title":"Preserving Natural Teeth to Maintain Oral Health.","authors":"","doi":"10.3290/j.cjdr.b5139365","DOIUrl":"10.3290/j.cjdr.b5139365","url":null,"abstract":"<p><p>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.</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":"11-12"},"PeriodicalIF":0.0,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308211","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}