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Genes
Special Issues
Molecular Genetic Mechanisms of Oral Diseases
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Molecular Genetic Mechanisms of Oral Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (5 October 2024) | Viewed by 4249

Special Issue Editor

Dr. Ricardo Santiago Gomez

E-Mail Website
Guest Editor
Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil
Interests: oral pathology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

The oral cavity can be affected by many inflammatory, immune-mediated, neoplastic or syndromic conditions. Relevant new molecular data have been reported not only in some highly prevalent pathologic conditions, such as periodontal, periapical or dental pulp inflammatory diseases, but also in other rare genodermatoses, for example. The underlying genetic alterations of these diseases can be relevant for diagnosis and could be potential targets for future genetic therapy.

This Special Issue aims to provide a snapshot of the advances in molecular changes of oral diseases. Research papers and critical reviews that show progress in the knowledge of molecular pathogenesis will be appreciated.

Dr. Ricardo Santiago Gomez
Guest Editor

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • periodontal disease
  • periapical disease
  • dental pulp diseases
  • oral mucosa
  • neoplasms of the oral cavity
  • molecular pathogenesis
  • oral manifestations of genodermatoses
  • immune-mediated diseases
  • oral mucosa

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Published Papers (2 papers)

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Research

12 pages, 2272 KiB  
Article
LRP5, SLC6A3, and SOX10 Expression in Conventional Ameloblastoma
by Lorena Correa-Arzate, Javier Portilla-Robertson, Josué Orlando Ramírez-Jarquín, Luis Fernando Jacinto-Alemán, Claudia Patricia Mejía-Velázquez, Francisco Germán Villanueva-Sánchez and Mariana Rodríguez-Vázquez
Genes 2023, 14(8), 1524; https://doi.org/10.3390/genes14081524 - 26 Jul 2023
Cited by 2 | Viewed by 1756
Abstract
Cell proliferation and invasion are characteristic of many tumors, including ameloblastoma, and are important features to target in possible future therapeutic applications. Objective: The objective of this study was the identification of key genes and inhibitory drugs related to the cell proliferation and [...] Read more.
Cell proliferation and invasion are characteristic of many tumors, including ameloblastoma, and are important features to target in possible future therapeutic applications. Objective: The objective of this study was the identification of key genes and inhibitory drugs related to the cell proliferation and invasion of ameloblastoma using bioinformatic analysis. Methods: The H10KA_07_38 gene profile database was analyzed by Rstudio and ShinyGO Gene Ontology enrichment. String, Cytoscape-MCODE, and Kaplan–Meier plots were generated, which were subsequently validated by RT-qPCR relative expression and immunoexpression analyses. To propose specific inhibitory drugs, a bioinformatic search using Drug Gene Budger and DrugBank was performed. Results: A total of 204 significantly upregulated genes were identified. Gene ontology enrichment analysis identified four pathways related to cell proliferation and cell invasion. A total of 37 genes were involved in these pathways, and 11 genes showed an MCODE score of ≥0.4; however, only SLC6A3, SOX10, and LRP5 were negatively associated with overall survival (HR = 1.49 (p = 0.0072), HR = 1.55 (p = 0.0018), and HR = 1.38 (p = 0.025), respectively). The RT-qPCR results confirmed the significant differences in expression, with overexpression of >2 for SLC6A3 and SOX10. The immunoexpression analysis indicated positive LRP5 and SLC6A3 expression. The inhibitory drugs bioinformatically obtained for the above three genes were parthenolide and vorinostat. Conclusions: We identify LRP5, SLC6A3, and SOX10 as potentially important genes related to cell proliferation and invasion in the pathogenesis of ameloblastomas, along with both parthenolide and vorinostat as inhibitory drugs that could be further investigated for the development of novel therapeutic approaches against ameloblastoma. Full article
(This article belongs to the Special Issue Molecular Genetic Mechanisms of Oral Diseases)
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15 pages, 692 KiB  
Article
Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population
by Zainab Rizvi, Nakhshab Choudhry, Aamir Jamal Gondal and Nighat Yasmin
Genes 2023, 14(5), 1119; https://doi.org/10.3390/genes14051119 - 22 May 2023
Viewed by 1819
Abstract
Recurrent aphthous stomatitis (RAS) is a benign ulcerative condition, defined by the recurrent formation of non-contagious mucosal ulcers. Surfactant protein D (SP-D) is secreted frequently at surfaces exposed directly to body fluids. This study aims to investigate the association of SP-D single nucleotide [...] Read more.
Recurrent aphthous stomatitis (RAS) is a benign ulcerative condition, defined by the recurrent formation of non-contagious mucosal ulcers. Surfactant protein D (SP-D) is secreted frequently at surfaces exposed directly to body fluids. This study aims to investigate the association of SP-D single nucleotide polymorphisms (SNPs) with the onset of RAS. Blood samples from 212 subjects (106 cases/controls each) were collected during 2019 and genotyped for SP-D SNPs (rs721917, rs2243639, rs3088308) by polymerase chain reaction and restriction fragment length polymorphism followed by 12% polyacrylamide gel electrophoresis. Minor aphthous (75.5%) was the commonly observed ulcer type as compared to herpetiform (21.7%) and major aphthous ulcers (2.8%). A family history of RAS was reported in 70% of cases. RAS was found significantly associated with rs3088308 genotypes T/A (95% (Cl): 1.57–5.03, p = 0.0005), A/A (95% (Cl): 1.8–6.7, p = 0.0002), T-allele (95% (Cl): 1.09–2.36, p = 0.01), A-allele (95% (Cl): 1.42–3.91, p = 0.01), rs721917 genotype T/T (95% (Cl): 1.15–25.35, p = 0.03), and T-allele (95% (Cl): 1.28–3.10, p = 0.002). Female gender and obese body mass index (BMI) were significantly associated with rs3088308 genotypes T/A (95% (CI): 1.89–15.7, p = 0.001), T/T (95% (Cl): 1.52–11.9, p = 0.005), A-allele (95% (Cl): 1.65–7.58, p < 0.001), and T-allele (95% (Cl): 1.4–10.1, p <0.001) and rs721917 genotype T/T (95% (CI) = 1.3–33, p = 0.02), respectively. This study describes the association of SP-D SNPs (rs721917, rs3088308) with RAS in the Pakistani population. Full article
(This article belongs to the Special Issue Molecular Genetic Mechanisms of Oral Diseases)
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