Oral diseases最新文献

筛选
英文 中文
Life course social mobility, race and tooth loss in adulthood: The role of dental health services. 生活过程中的社会流动性、种族和成年后牙齿脱落:牙科保健服务的作用。
IF 2.9 3区 医学
Oral diseases Pub Date : 2024-10-01 Epub Date: 2024-03-04 DOI: 10.1111/odi.14918
Roger Keller Celeste, Antonio Fernando Boing, Karen Glazer Peres, Marco Aurelio Peres
{"title":"Life course social mobility, race and tooth loss in adulthood: The role of dental health services.","authors":"Roger Keller Celeste, Antonio Fernando Boing, Karen Glazer Peres, Marco Aurelio Peres","doi":"10.1111/odi.14918","DOIUrl":"10.1111/odi.14918","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the extent to which dental care factors in adulthood modify and, at the same time, mediate the association between race/ethnicity and social mobility from childhood to adulthood with two oral health outcomes in adults.</p><p><strong>Methods: </strong>In 2012, 1222 individuals 20-59 years old participated in the second wave of the Epi-Floripa Study in Florianopolis, Brazil. Exposures included social mobility based on adulthood and childhood events, dental care in previous years, type of dental care coverage, reason for dental visits and race. The number of missing and decayed teeth were dichotomised as MT >0 and DT >0.</p><p><strong>Results: </strong>The prevalence of missing and decayed teeth was 61.9% and 23.0%, respectively. Age-sex adjusted inequalities in decayed and missing teeth among Black and White individuals were 41.2 percentage points (pp) (95% CI: 3.9-78.7) and 53.1 pp (19.5:86.7), respectively. Inequalities between those persistently higher and lower in socioeconomic position were 42.6 pp (14.6-70.7) and 90.0 pp (62.1-100). The Relative Excess of Risk due to Interaction (RERI) was not statistically significant (p < 0.05). Oaxaca-Blinder decomposition analyses showed that dental care variables accounted for a small proportion of inequalities.</p><p><strong>Conclusions: </strong>This result implies that dental care is unlikely to significantly reduce or increase oral health inequalities in this particular population.</p>","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140028548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Virucidal effect of mouthwash on acyclovir-resistant herpes simplex virus. 漱口水对阿昔洛韦耐药单纯疱疹病毒的杀病毒作用。
IF 2.9 3区 医学
Oral diseases Pub Date : 2024-10-01 Epub Date: 2023-12-27 DOI: 10.1111/odi.14843
M Bar Ilan, S Dovrat, R Cohen, M Georgaki, E Papadopoulou, N G Nikitakis, N Yarom
{"title":"Virucidal effect of mouthwash on acyclovir-resistant herpes simplex virus.","authors":"M Bar Ilan, S Dovrat, R Cohen, M Georgaki, E Papadopoulou, N G Nikitakis, N Yarom","doi":"10.1111/odi.14843","DOIUrl":"10.1111/odi.14843","url":null,"abstract":"<p><strong>Objectives: </strong>The symptoms of herpes simplex viruses type 1 (HSV-1) infections might be severe and persistent in immunocompromised patients in whom they reactivate at a high frequency. The development of Acyclovir (ACV) resistant strains due to long-term treatment with antiviral agents in those patients is not uncommon. The aim of the present study was to assess the virucidal effect of commercially available mouthwashes against ACV-resistant HSV-1 strains.</p><p><strong>Materials and methods: </strong>Two acyclovir-resistant HSV-1 strains were exposed for 30 s to essential oil-based (Listerine Fresh Burst® and Listerine Zero®), chlorhexidine gluconate 0.2% (Hexidyl®) and povidone-iodine 7.5% (Betadine Gargle®) mouthwashes. Loss of virus infectivity was determined by means of plaque reduction assays in a cell culture system.</p><p><strong>Results: </strong>All 4 of the tested solutions significantly reduced virus infectivity, with the essential oil-based and povidone-iodine mouthwashes being slightly more efficacious, compared to chlorhexidine.</p><p><strong>Conclusion: </strong>The findings of this analysis revealed that the tested oral rinses demonstrated in-vitro antiviral activity against ACV-resistant HSV. Comparative clinical trials are required to establish the clinical effectiveness of daily use of oral rinses in reducing the appearance of oral HSV lesions in immunocompromised patients.</p>","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139049108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Accuracy of chatbot-generated references in the field of oral oncology: Exercising caution. 聊天机器人生成的口腔肿瘤学领域参考文献的准确性:谨慎行事。
IF 2.9 3区 医学
Oral diseases Pub Date : 2024-10-01 Epub Date: 2024-01-22 DOI: 10.1111/odi.14880
Gargi S Sarode, Sachin C Sarode, Shruti Singh, Amol Dhane
{"title":"Accuracy of chatbot-generated references in the field of oral oncology: Exercising caution.","authors":"Gargi S Sarode, Sachin C Sarode, Shruti Singh, Amol Dhane","doi":"10.1111/odi.14880","DOIUrl":"10.1111/odi.14880","url":null,"abstract":"","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139513126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of joint protein expression profile in anterior disc displacement of TMJ with or without OA. 颞下颌关节前盘移位伴或不伴 OA 的关节蛋白表达谱分析。
IF 2.9 3区 医学
Oral diseases Pub Date : 2024-10-01 Epub Date: 2024-01-22 DOI: 10.1111/odi.14871
Luxiang Zou, Kaiwen Yang, Yeke Yu, Chuyao Wang, Jieyun Zhao, Chuan Lu, Dongmei He
{"title":"Analysis of joint protein expression profile in anterior disc displacement of TMJ with or without OA.","authors":"Luxiang Zou, Kaiwen Yang, Yeke Yu, Chuyao Wang, Jieyun Zhao, Chuan Lu, Dongmei He","doi":"10.1111/odi.14871","DOIUrl":"10.1111/odi.14871","url":null,"abstract":"<p><strong>Objective: </strong>Anterior disc displacement (ADD) is a common clinical issue and may cause osteoarthritis (OA). However, the research of protein changes in synovial fluid as disease development marker and potential treatment clue is still insufficient.</p><p><strong>Materials and methods: </strong>We conducted the high-resolution mass spectrometry (MS) of synovial fluid collected from 60 patients with normal disk position to ADD and ADD with osteoarthritis (OA). The proteins with significant changes among the 3 groups were analyzed by biological information and further validated by in primary rat condyle chondrocytes and OA animal model.</p><p><strong>Results: </strong>FGL2, THBS4, TNC, FN1, OMD etc. were significantly increased in ADD without OA (p < 0.05), which reflected the active extracellular matrix and collagen metabolism. FGFR1, FBLN2, GRB2 etc. were significantly increased in ADD with OA group (p < 0.05), which revealed an association with apoptosis and ferroptosis. Proteins such as P4HB, CBLN4, FHL1, VIM continuously increase in the whole disease progress (p < 0.05). Both the in vitro and in vivo results are consistent with protein changes detected in MS profile.</p><p><strong>Conclusion: </strong>This study firstly provides the expression changes of proteins from normal disc condyle relationship toward ADD with OA, which can be selected and studied further as disease progress marker and potential treatment targets.</p>","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139513130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cryptocarya moschata extract decreases single and mixed biofilms on acrylic resins. 隐翅虫提取物可减少丙烯酸树脂上的单一和混合生物膜。
IF 2.9 3区 医学
Oral diseases Pub Date : 2024-10-01 Epub Date: 2024-01-29 DOI: 10.1111/odi.14858
Camilla Olga Tasso, Beatriz Ribeiro Ribas, Túlio Morandin Ferrisse, Jonatas Silva de Oliveira, Janaina Habib Jorge
{"title":"Cryptocarya moschata extract decreases single and mixed biofilms on acrylic resins.","authors":"Camilla Olga Tasso, Beatriz Ribeiro Ribas, Túlio Morandin Ferrisse, Jonatas Silva de Oliveira, Janaina Habib Jorge","doi":"10.1111/odi.14858","DOIUrl":"10.1111/odi.14858","url":null,"abstract":"<p><strong>Objective: </strong>This study proposed to assess the effect of Cryptocarya moschata extract on single and mixed biofilms formed on denture base and reline acrylic resin.</p><p><strong>Materials and methods: </strong>Single and mixed biofilms of Candida albicans and Streptococcus mutans were formed on the samples and treated with C. moschata extract; Nystatin solution at 100,000 IU/mL or Penicillin antibiotic solution at 100,000 IU/mL; or PBS solution. Antimicrobial activity was analyzed by counting colony-forming units, metabolism assay, assessment of protein components of the biofilm matrix, and of cell viability using confocal laser scanning microscopy (CLSM). Data were submitted to ANOVA and Tukey's post-test (α = 0.05).</p><p><strong>Results: </strong>Cryptocarya moschata extract reduced cell viability of C. albicans and S. mutans single and mixed biofilms formed on samples. For all types of biofilms in the C. moschata group, there was a log reduction of the biofilm, proven by the Alamar Blue assay. Analyzing the extracellular matrix protein components, groups treated with the extract exhibited a lower level of fluorescence compared to the PBS groups. Reduction in thickness biofilm and viable cells was perceptible in the C. moschata group when assessing through CLSM.</p><p><strong>Conclusion: </strong>Cryptocarya moschata extract reduced the single and mixed biofilms of C. albicans and S. mutans on acrylic resins.</p>","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139576124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fusobacterium nucleatum dysregulates inflammatory cytokines and NLRP3 inflammasomes in oral cells. 核分枝杆菌对口腔细胞中的炎症细胞因子和 NLRP3 炎症小体调节失调。
IF 2.9 3区 医学
Oral diseases Pub Date : 2024-10-01 Epub Date: 2024-02-26 DOI: 10.1111/odi.14899
Jingzhuo Sun, Susu Feng, Tian Ding, Ting Wang, Lingqian Du, Wenyan Kang, Shaohua Ge
{"title":"Fusobacterium nucleatum dysregulates inflammatory cytokines and NLRP3 inflammasomes in oral cells.","authors":"Jingzhuo Sun, Susu Feng, Tian Ding, Ting Wang, Lingqian Du, Wenyan Kang, Shaohua Ge","doi":"10.1111/odi.14899","DOIUrl":"10.1111/odi.14899","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to clarify the difference in Fusobacterium nucleatum (F. nucleatum) induced inflammatory cytokines and nod-like receptor protein 3 (NLRP3) inflammasomes dysregulation among three periodontal cells.</p><p><strong>Methods: </strong>Oral epithelial cells (HIOECs), THP-1 macrophages, and human gingival fibroblasts (HGFs) were exposed to F. nucleatum with/without adenosine triphosphate (ATP) and nigericin (Nig). Cell morphology was assessed by scanning electron microscopy. qRT-PCR, protein microarrays, and bioinformatic methods were used to evaluate the cytokines and their complex interplay. NLRP3 inflammasomes activation was detected by western blotting and ELISA.</p><p><strong>Results: </strong>F. nucleatum adhered to and invaded cells. In HIOECs, F. nucleatum enhanced interleukin (IL)-1α/1β/6/10/13, TNF-α, and interferon (IFN)-γ expression. In THP-1 macrophages, F. nucleatum up-regulated IL-1α/1β/6/10 and TNF-α levels. In HGFs, F. nucleatum increased IL-6 levels. F. nucleatum and ATP synergistically boosted IFN-γ level in THP-1 macrophages and IL-13 level in HGFs. IL-1α/1β/6, and TNF-α served as epicenters of the inflammatory response. Additionally, F. nucleatum activated NLRP3 inflammasomes in HIOECs, and ATP/Nig boosted the activation. F. nucleatum also triggered NLRP3 inflammasomes in THP-1 macrophages, but in HGFs, only NLRP3 and caspase-1 levels were elevated.</p><p><strong>Conclusion: </strong>F. nucleatum infiltrated periodontal supporting cells and dysregulated inflammatory cytokines and NLRP3 inflammasomes.</p>","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139972930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
BRAF V600E mutation mediates invasive and growth features in ameloblastoma. BRAF V600E突变介导了羊膜母细胞瘤的侵袭性和生长特征。
IF 2.9 3区 医学
Oral diseases Pub Date : 2024-10-01 Epub Date: 2024-02-29 DOI: 10.1111/odi.14909
Chen-Xi Zhang, Lin-Zhou Zhang, Hao Lin, Qi-Wen Man, Bing Liu
{"title":"BRAF V600E mutation mediates invasive and growth features in ameloblastoma.","authors":"Chen-Xi Zhang, Lin-Zhou Zhang, Hao Lin, Qi-Wen Man, Bing Liu","doi":"10.1111/odi.14909","DOIUrl":"10.1111/odi.14909","url":null,"abstract":"<p><strong>Objectives: </strong>Ameloblastoma (AM), a locally aggressive tumor with extensive growth capacity, causes significant damage to the jaw and affects facial appearance. Although the high prevalence of BRAF V600E mutation in AM is known, its specific impacts on patients with AM remain unclear. Thus, the present study investigated the role of BRAF V600E mutation, thereby focusing on its impact on AM invasion and growth.</p><p><strong>Materials and methods: </strong>Immunohistochemical analysis was used to compare BRAF V600E, MMP2, MMP9, and Ki-67 expressions in AM (n = 49), normal oral mucosa (NOM) (n = 10), and odontogenic keratocyst (OKC) (n = 15) tissues. AM was further classified according to the presence or absence of BRAF V600E. The relationship between BRAF V600E and invasion as well as growth was evaluated. In addition, correlation analysis was performed using immunohistochemistry and confirmed via double-labeling immunofluorescence. Finally, comparative analyses using mass spectrometry, immunohistochemistry, and immunofluorescence were performed to explore and identify underlying mechanisms.</p><p><strong>Results: </strong>AM exhibited a higher incidence of BRAF V600E mutation than NOM and OKC. BRAF V600E expression was positively correlated with the invasion-associated proteins MMP2 and MMP9 and the growth-related protein Ki-67. Proteomic data revealed that BRAF V600E primarily activates the MAPK signaling pathway in AM, particularly driving the phosphorylation of extracellular signal-regulated kinase 1/2 (ERK1/2).</p><p><strong>Conclusions: </strong>In summary, the findings suggested that the BRAF V600E mutation enhances the invasion and growth abilities of AM via the MAPK/ERK signaling pathway. Thus, targeting BRAF V600E or the MAPK/ERK pathway may be a potential AM therapy.</p>","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139996944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
COVID-19 impact on post-traumatic stress symptoms in burning mouth syndrome: A multicentric study. COVID-19 对灼口综合征患者创伤后应激症状的影响:多中心研究
IF 2.9 3区 医学
Oral diseases Pub Date : 2024-10-01 Epub Date: 2024-03-10 DOI: 10.1111/odi.14915
Giulia Ottaviani, Federica Canfora, Stefania Leuci, Noemi Coppola, Giuseppe Pecoraro, Katia Rupel, Magdalena Theodora Bogdan Preda, Veronica Vello, Albert Umberto, Roberta Gasparro, Margherita Gobbo, Luca Guarda-Nardini, Amerigo Giudice, Elena Calabria, Massimo Aria, Luca D'Aniello, Giulio Fortuna, Matteo Biasotto, Roberto Di Lenarda, Michele Davide Mignogna, Daniela Adamo
{"title":"COVID-19 impact on post-traumatic stress symptoms in burning mouth syndrome: A multicentric study.","authors":"Giulia Ottaviani, Federica Canfora, Stefania Leuci, Noemi Coppola, Giuseppe Pecoraro, Katia Rupel, Magdalena Theodora Bogdan Preda, Veronica Vello, Albert Umberto, Roberta Gasparro, Margherita Gobbo, Luca Guarda-Nardini, Amerigo Giudice, Elena Calabria, Massimo Aria, Luca D'Aniello, Giulio Fortuna, Matteo Biasotto, Roberto Di Lenarda, Michele Davide Mignogna, Daniela Adamo","doi":"10.1111/odi.14915","DOIUrl":"10.1111/odi.14915","url":null,"abstract":"<p><strong>Objectives: </strong>This study investigates the psychological impact of COVID-19 on burning mouth syndrome (BMS) patients. It focuses on comparing post-traumatic stress symptoms (PTSS), post-traumatic growth (PTG), and resilience between BMS patients and Controls.</p><p><strong>Methods: </strong>A total of 100 BMS patients and 100 Controls from five Italian centers participated in this observational cross-sectional study. They completed several assessments, including the General Health Questionnaire, Depression Anxiety and Stress Scale, Insomnia Severity Index, National Stressful Events Survey Short Scale, Impact of Event Scale-Revised, Post Traumatic Growth Inventory Short Form, and Connor-Davidson Resilience Scale.</p><p><strong>Results: </strong>BMS patients had significantly higher stress, anxiety, and depression (DASS-21 score) and post-traumatic stress symptoms (IES-R-6 score), particularly in terms of intrusive thoughts. They showed lower post-traumatic growth (PTGI-SF score) compared to Controls. The resilience scale (CDRS-10) was a key predictor of PTG in both groups, explaining a significant variance in PTGI-SF scores.</p><p><strong>Conclusions: </strong>BMS patients experienced heightened post-traumatic stress, stress, anxiety, and depression during the COVID-19 pandemic, with reduced post-traumatic growth. This highlights the need to prioritize their psychological well-being, focusing on stress management and fostering post-traumatic growth in challenging times.</p>","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140094454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comment on "Influence of oral condition on the quality of life of patients hospitalized for COVID-19". COVID-19 住院患者的口腔健康:患者福祉和康复的关键环节。
IF 2.9 3区 医学
Oral diseases Pub Date : 2024-10-01 Epub Date: 2024-03-10 DOI: 10.1111/odi.14924
Paulo Ricardo Martins-Filho, Lucas Alves da Mota Santana, Fábio Wildson Gurgel Costa
{"title":"Comment on \"Influence of oral condition on the quality of life of patients hospitalized for COVID-19\".","authors":"Paulo Ricardo Martins-Filho, Lucas Alves da Mota Santana, Fábio Wildson Gurgel Costa","doi":"10.1111/odi.14924","DOIUrl":"10.1111/odi.14924","url":null,"abstract":"","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140094399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","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 six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families. 从20个发育不全外胚层发育不良家族中鉴定出EDA中的六种新型突变。
IF 2.9 3区 医学
Oral diseases Pub Date : 2024-10-01 Epub Date: 2023-12-21 DOI: 10.1111/odi.14838
Qin Xing, Qimin Zhou, Hongyan Li, Zhongjie Wang, Shun Li, Jiayu Wu, Huimin Zhu, Desheng Liang, Zhuo Li, Lingqian Wu
{"title":"Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.","authors":"Qin Xing, Qimin Zhou, Hongyan Li, Zhongjie Wang, Shun Li, Jiayu Wu, Huimin Zhu, Desheng Liang, Zhuo Li, Lingqian Wu","doi":"10.1111/odi.14838","DOIUrl":"10.1111/odi.14838","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the genetic causes of 22 patients with clinically high suspicion of X-linked hypohidrotic ectodermal dysplasia from 20 unrelated Chinese families, expand the spectrum of ectodysplasin-A mutations, and provide more evidence for variants of uncertain significance.</p><p><strong>Subjects and methods: </strong>Whole-exome sequencing was performed and potentially pathogenic variants were verified by Sanger sequencing. Western blotting, real-time PCR and immunofluorescence analyses were performed to investigate the preliminary functions of the candidate variants.</p><p><strong>Results: </strong>Nineteen ectodysplasin-A variants were identified, six of which were not previously reported. Among these variants, we identified a patient who carried two mutations in ectodysplasin-A and exhibited more severe phenotypes. Additionally, mutant protein expression levels decreased, whereas mRNA transcription levels increased. Cellular sublocalisation of the variants located in the tumour necrosis factor homologous domain showed that the proteins accumulated in the nucleus, whereas wild-type proteins remained in the cell membrane. A rare indel variant and two classical splicing variants that lead to exon 7 skipping were detected.</p><p><strong>Conclusions: </strong>This study provides definitive diagnoses for 20 families with suspected X-linked hypohidrotic ectodermal dysplasia and additional information on clinical heterogeneity and genotype-phenotype relationships.</p>","PeriodicalId":19615,"journal":{"name":"Oral diseases","volume":null,"pages":null},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138830849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信