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Genetic Biomarkers and Their Expression for Human Diseases: From the...
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Genetic Biomarkers and Their Expression for Human Diseases: From the Laboratory to the Patient’s Bedside

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

Deadline for manuscript submissions: closed (25 April 2024) | Viewed by 3330

Special Issue Editor

Prof. Dr. Miguel A. Ortega

E-Mail Website
Guest Editor
Department of Medicine and Medical Specialties, IRYCYS, Faculty of Medicine and Health Sciences, University of Alcalá, 28801 Alcala de Henares, Spain
Interests: vascular diseases; artery; venous disease; venous hypertension; heart; lymph; diabetes; immune system; translational medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The genetic markers in histopathological and body fluid samples have received increasing attention in recent years. Since the first works conducted in the field of oncology, a broad spectrum of conditions like inflammatory diseases, neuropsychiatric disorders, or vascular alterations have benefited from the implementation of promising biomarkers of diagnostic, prognostic, predictive, and therapeutic value. Indeed, multiple areas of translational research have derived from the inclusion of genetic biomarkers in the context of personalized medicine like pharmacogenomics, pharmacogenetics, or pharmacomicrobiomics. However, the limited number of genetic biomarkers currently considered in clinical practice and the plethora of applications with respect to different pathological conditions make them a key point of study that is worth exploring in detail.

Therefore, the aim of this Special Issue is to gain further insights into the use of genetic biomarkers in the context of human diseases either from a translational or individualized perspective. Submissions consisting of original works and reviews that analyze or describe the applications of genetic markers in tissue or body fluid samples are welcome, so too are submissions in the form of systematic reviews, meta-analyses, and any type of scientific article that provides added value to this highly relevant field of biomedicine.

Prof. Dr. Miguel A. Ortega
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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

  • genetic
  • genetic and protein expression
  • translational medicine
  • human diseases
  • molecular pathology
  • diagnostics
  • therapeutics

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Published Papers (2 papers)

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Research

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14 pages, 15725 KiB  
Article
Downregulation of RhoB Inhibits Cervical Cancer Progression and Enhances Cisplatin Sensitivity
by Weijiao Wang, Yubin Jia, Yuhuan Liu, Xiaofeng Lv, Lili Guo, Silu Meng and Changyu Wang
Genes 2024, 15(9), 1186; https://doi.org/10.3390/genes15091186 - 10 Sep 2024
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Abstract
RhoB, a member of the Rho GTPase family, has been implicated in the malignant progression of various cancer types. However, its role in cervical cancer (CC) remains unclear. Therefore, this study aims to elucidate the biological function of RhoB in CC and its [...] Read more.
RhoB, a member of the Rho GTPase family, has been implicated in the malignant progression of various cancer types. However, its role in cervical cancer (CC) remains unclear. Therefore, this study aims to elucidate the biological function of RhoB in CC and its relationship with cisplatin sensitivity. We analyzed data from the TCGA, GTEx, and GEO databases, revealing that RhoB mRNA expression is downregulated in CC tissues compared to normal cervical tissues. The further analysis of the TCGA database and Tongji samples showed that CC patients with a high RhoB expression had a shorter overall survival (OS). Subsequently, we found that the knockdown of RhoB inhibited the proliferation, migration, and invasion of cancer cells, while increasing apoptosis. Through Western blot (WB) analysis, we found that knocking down RhoB resulted in an increased expression of the epithelial marker E-cadherin, while the levels of N-cadherin, MMP2, MMP9, Vimentin, and Snail1 were reduced. Additionally, RhoB mRNA expression was upregulated in CC tissues after chemotherapy compared to CC tissues before chemotherapy. In CC cells, RhoB expression increased with cisplatin concentration, and the IC50 value decreased following RhoB knockdown. Moreover, the knockdown of RhoB could enhance the cellular apoptosis triggered by cisplatin. This study demonstrated that RhoB plays an oncogenic role in CC and that its knockdown could enhance the sensitivity of CC cells to cisplatin. Full article
(This article belongs to the Special Issue Genetic Biomarkers and Their Expression for Human Diseases: From the Laboratory to the Patient’s Bedside)
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Review

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11 pages, 694 KiB  
Review
Extrachromosomal Circular DNA: An Emerging Potential Biomarker for Inflammatory Bowel Diseases?
by Valentina Petito, Federica Di Vincenzo, Lorenza Putignani, Maria T. Abreu, Birgitte Regenberg, Antonio Gasbarrini and Franco Scaldaferri
Genes 2024, 15(4), 414; https://doi.org/10.3390/genes15040414 - 26 Mar 2024
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Abstract
Inflammatory bowel disease (IBD) comprising ulcerative colitis and Crohn’s disease is a chronic immune-mediated disease which affects the gastrointestinal tract with a relapsing and remitting course, causing lifelong morbidity. IBD pathogenesis is determined by multiple factors including genetics, immune and microbial factors, and [...] Read more.
Inflammatory bowel disease (IBD) comprising ulcerative colitis and Crohn’s disease is a chronic immune-mediated disease which affects the gastrointestinal tract with a relapsing and remitting course, causing lifelong morbidity. IBD pathogenesis is determined by multiple factors including genetics, immune and microbial factors, and environmental factors. Although therapy options are expanding, remission rates are unsatisfiable, and together with the disease course, response to therapy remains unpredictable. Therefore, the identification of biomarkers that are predictive for the disease course and response to therapy is a significant challenge. Extrachromosomal circular DNA (eccDNA) fragments exist in all tissue tested so far. These fragments, ranging in length from a few hundreds of base pairs to mega base pairs, have recently gained more interest due to technological advances. Until now, eccDNA has mainly been studied in relation to cancer due to its ability to act as an amplification site for oncogenes and drug resistance genes. However, eccDNA could also play an important role in inflammation, expressed both locally in the- involved tissue and at distant sites. Here, we review the current evidence on the molecular mechanisms of eccDNA and its role in inflammation and IBD. Additionally, the potential of eccDNA as a tissue or plasma marker for disease severity and/or response to therapy is evaluated. Full article
(This article belongs to the Special Issue Genetic Biomarkers and Their Expression for Human Diseases: From the Laboratory to the Patient’s Bedside)
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