10th Anniversary of Biomedicines—Advances in Genetic Research

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: closed (15 December 2023) | Viewed by 7129

Special Issue Editors


E-Mail Website
Guest Editor
Department of Biology, Faculty of Science, University of Ottawa, Ottawa, ON K1N 6N5, Canada
Interests: brain development and regeneration; development of dopamine and GABA neurons; control of gene expression; transgenic models; evolution of developmental mechanisms; zebrafish models of disease including Parkinson's disease
Special Issues, Collections and Topics in MDPI journals
Department of Chemistry, Michigan Technological University, Houghton, MI 49931, USA
Interests: development of novel molecular probes for DNA sequencing analysis and disease gene discovery; development of new imaging and therapeutic agents towards cancer and cardiovascular disease; design and synthesis of novel prodrugs of peptides and peptide mimetics
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
1. Department of Medicine I, Institute of Cancer Research and Comprehensive Cancer Center, Medical University Vienna, Vienna, Austria
2. ScienceConsult—DI Thomas Mohr KG, Enzianweg 10a, 2353 Guntramsdorf, Austria
Interests: bioinformatics; systems biology; cancer; biomarker identification; network analysis; omics analysis; in-vitro test development; data integration
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
1. Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Vienna, Austria
2. Center for Physiology and Pharmacology, Institute of Vascular Biology and Thrombosis Research, Medical University of Vienna, Vienna, Austria
Interests: protein analysis; drug discovery; in silico evaluation; in vitro and in vivo analysis
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Kawasaki Medical College, Kurashiki, Japan
Interests: posttranscriptional gene regulation; RNA binding protein; miRNA; non-coding RNA; cancer; aging; RNA biology; epigenome; mRNA turnover; RNA processing

E-Mail Website
Guest Editor
Department of Pathophysiology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Tokushima 770-8503, Japan
Interests: cancer research; cell biology; tumor biomarkers; transcriptomics; alternative splicing; RNA modifications; non-coding RNAs

Special Issue Information

Dear Colleagues,

In recent years, molecular genetics has revolutionized the practice of medicine. Next-generation sequencing technologies enable as many as millions of DNA strands to be sequenced in as little as a matter of minutes, offering the possibility of incorporating patients’ genetic information into routine care. The genetic profiling of individual tumors provides oncologists with a comprehensive cancer genome landscape, which can transform cancer therapy from a one-size-fits-all to a tailored approach. By targeting neoantigens, personalized immunotherapies promote the development of cancer vaccines and T-cell transfer therapy, enabling revolutionary breakthroughs in cancer treatment. Major advances in genetic diagnoses have led to the development of life-saving modulator therapies based on CFTR, the cystic fibrosis transmembrane conductance regulator protein. CRISPR/Cas technology has been approved by the FDA for the detection of SARS-CoV-2 and has also been applied in xenotransplantation research, providing alternative solutions to the organ shortage crisis.

The goal of this Special Issue of Biomedicines is to explore the opportunities offered by molecular genetics to improve the management of complex diseases, such as cardiovascular, autoimmune, and neurodegenerative diseases. We are interested in the applications of molecular genetics to advance our understanding of the basis of these diseases. Topics may include, but are not limited to, genetic studies of specific diseases or specific processes in pathogenesis.

Prof. Dr. Marc Ekker
Dr. Lanrong Bi
Dr. Thomas Mohr
Dr. Alexander Tolios
Dr. Kiyoshi Masuda
Dr. Yuki Kuwano
Guest Editors

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. Biomedicines 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

  • molecular genetics
  • CRISPR technology
  • targeted therapy
  • immunotherapy
  • DNA/RNA-editing technologies
  • molecular gene therapy
  • personalized medicine
  • massive parallel sequencing
  • pharmacogenetics
  • genotype-guided therapies

Published Papers (4 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Research

Jump to: Review

10 pages, 1590 KiB  
Article
Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema
by Olga Shchagina, Elena Gracheva, Alyona Chukhrova, Elena Bliznets, Igor Bychkov, Sergey Kutsev and Aleksander Polyakov
Biomedicines 2024, 12(1), 72; https://doi.org/10.3390/biomedicines12010072 - 28 Dec 2023
Viewed by 706
Abstract
Variants that affect splice sites comprise 14.3% of all pathogenic variants in the SERPING1 gene; more than half of them are located outside the canonical sites. To make a clinical decision concerning patients with such variants, it is essential to know the exact [...] Read more.
Variants that affect splice sites comprise 14.3% of all pathogenic variants in the SERPING1 gene; more than half of them are located outside the canonical sites. To make a clinical decision concerning patients with such variants, it is essential to know the exact way in which the effect of the variant would be realized. The optimal approach to determine the consequences is considered to be mRNA analysis. In the current study, we present the results of functional analysis of two previously non-described variants in the SERPING1 gene (NM_000062.3) affecting intron 4: c.686-1G>A and c.685+4dup, which were detected in members of two Russian families with autosomal dominant inheritance of angioedema type 1. Analysis of the patients’ mRNA (extracted from whole blood) showed that the SERPING1(NM_000062.3):c.685+4dup variant leads to the loss of the donor splice site and the activation of the cryptic site in exon 4: r.710_745del (p.Gly217_Pro228del), while the SERPING1(NM_000062.3):c.686-1G>A variant leads to the skipping of exon 5: r.746_949del (p.Asp229_Ser296del). Full article
(This article belongs to the Special Issue 10th Anniversary of Biomedicines—Advances in Genetic Research)
Show Figures

Figure 1

13 pages, 2271 KiB  
Article
Long Non-Coding RNA GAS5 Promotes BAX Expression by Competing with microRNA-128-3p in Response to 5-Fluorouracil
by Heejin Lee, Hoin Kang, Chongtae Kim, Ja-Lok Ku, Sukwoo Nam and Eun Kyung Lee
Biomedicines 2023, 11(1), 58; https://doi.org/10.3390/biomedicines11010058 - 26 Dec 2022
Cited by 1 | Viewed by 1256
Abstract
The acquisition of drug resistance is a major hurdle for effective cancer treatment. Although several efforts have been made to overcome drug resistance, the underlying mechanisms have not been fully elucidated. This study investigated the role of long non-coding RNA (lncRNA) growth arrest-specific [...] Read more.
The acquisition of drug resistance is a major hurdle for effective cancer treatment. Although several efforts have been made to overcome drug resistance, the underlying mechanisms have not been fully elucidated. This study investigated the role of long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5) in drug resistance. GAS5 was found to be downregulated in colon cancer cell lines that are resistant to 5-fluorouracil (5-FU). Downregulation of GAS5 decreased the viability of HCT116 cells and the level of the pro-apoptotic BAX protein, while GAS5 overexpression promoted cell death in response to 5-FU. The interaction between GAS5 and BAX mRNA was investigated using MS2-tagged RNA affinity purification (MS2-trap) followed by RT-qPCR, and the results showed that GAS5 bound to the 3′-untranslated region of BAX mRNA and enhanced its expression by interfering with the inhibitory effect of microRNA-128-3p, a negative regulator of BAX. In addition, ectopic expression of GAS5 increased the sensitivity of resistant cells in response to anti-cancer drugs. These results suggest that GAS5 promoted cell death by interfering with miR-128-3p-mediated BAX downregulation. Therefore, GAS5 overexpression in chemo-resistant cancer cells may be a potential strategy to improve the anti-cancer efficacy of drugs. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomedicines—Advances in Genetic Research)
Show Figures

Figure 1

34 pages, 6238 KiB  
Article
Mutational Slime Mould Algorithm for Gene Selection
by Feng Qiu, Pan Zheng, Ali Asghar Heidari, Guoxi Liang, Huiling Chen, Faten Khalid Karim, Hela Elmannai and Haiping Lin
Biomedicines 2022, 10(8), 2052; https://doi.org/10.3390/biomedicines10082052 - 22 Aug 2022
Cited by 6 | Viewed by 2174
Abstract
A large volume of high-dimensional genetic data has been produced in modern medicine and biology fields. Data-driven decision-making is particularly crucial to clinical practice and relevant procedures. However, high-dimensional data in these fields increase the processing complexity and scale. Identifying representative genes and [...] Read more.
A large volume of high-dimensional genetic data has been produced in modern medicine and biology fields. Data-driven decision-making is particularly crucial to clinical practice and relevant procedures. However, high-dimensional data in these fields increase the processing complexity and scale. Identifying representative genes and reducing the data’s dimensions is often challenging. The purpose of gene selection is to eliminate irrelevant or redundant features to reduce the computational cost and improve classification accuracy. The wrapper gene selection model is based on a feature set, which can reduce the number of features and improve classification accuracy. This paper proposes a wrapper gene selection method based on the slime mould algorithm (SMA) to solve this problem. SMA is a new algorithm with a lot of application space in the feature selection field. This paper improves the original SMA by combining the Cauchy mutation mechanism with the crossover mutation strategy based on differential evolution (DE). Then, the transfer function converts the continuous optimizer into a binary version to solve the gene selection problem. Firstly, the continuous version of the method, ISMA, is tested on 33 classical continuous optimization problems. Then, the effect of the discrete version, or BISMA, was thoroughly studied by comparing it with other gene selection methods on 14 gene expression datasets. Experimental results show that the continuous version of the algorithm achieves an optimal balance between local exploitation and global search capabilities, and the discrete version of the algorithm has the highest accuracy when selecting the least number of genes. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomedicines—Advances in Genetic Research)
Show Figures

Figure 1

Review

Jump to: Research

16 pages, 323 KiB  
Review
circRNA: A New Biomarker and Therapeutic Target for Esophageal Cancer
by Katsutoshi Shoda, Yuki Kuwano, Daisuke Ichikawa and Kiyoshi Masuda
Biomedicines 2022, 10(7), 1643; https://doi.org/10.3390/biomedicines10071643 - 08 Jul 2022
Cited by 7 | Viewed by 2416
Abstract
Circular RNAs (circRNAs) comprise a large class of endogenous non-coding RNA with covalently closed loops and have independent functions as linear transcripts transcribed from identical genes. circRNAs are generated by a “back-splicing” process regulated by regulatory elements in cis and associating proteins in [...] Read more.
Circular RNAs (circRNAs) comprise a large class of endogenous non-coding RNA with covalently closed loops and have independent functions as linear transcripts transcribed from identical genes. circRNAs are generated by a “back-splicing” process regulated by regulatory elements in cis and associating proteins in trans. Many studies have shown that circRNAs play important roles in multiple processes, including splicing, transcription, chromatin modification, miRNA sponges, and protein decoys. circRNAs are highly stable because of their closed ring structure, which prevents them from degradation by exonucleases, and are more abundant in terminally differentiated cells, such as brains. Recently, it was demonstrated that numerous circRNAs are differentially expressed in cancer cells, and their dysfunction is involved in tumorigenesis and metastasis. However, the crucial functions of these circRNAs and the dysregulation of circRNAs in cancer are still unknown. In this review, we summarize the recent reports on the biogenesis and biology of circRNAs and then catalog the advances in using circRNAs as biomarkers and therapeutic targets for cancer therapy, particularly esophageal cancer. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomedicines—Advances in Genetic Research)
Back to TopTop