Research on Gene Mutations in Cancer and Chronic Diseases
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 31 December 2024 | Viewed by 62
Special Issue Editor
Special Issue Information
Dear Colleagues,
Research on gene mutations and their multifaceted consequences on cell function, metabolism, and pathogenesis of neoplastic and chronic diseases created the foundations of molecular medicine. Nowadays, the important discoveries of basic and translational research on altered gene/protein structures and functions have been widely utilized to develop molecularly targeted therapies of oncogene-addicted tumors and gene therapies of monogenic disorders and to validate multiple laboratory techniques for the analysis of predictive biomarkers on the DNA/RNA/protein level as companion diagnostics, altogether being elements of personalized treatment approach. Also, the rapid technological progress in methods of molecular and genetic analysis, e.g., next-generation sequencing (NGS), CRISPR, and Surface Plasmon Resonance (SPR) for protein interaction mapping, is of significance and drives the advances in research and clinics.
Accordingly, we expect that this IJMS Special Issue will become a scientific platform to present the most recent and cutting-edge finding in the broad field of research on gene mutations. We invite submissions of original research articles as well as reviews in the areas of basic, translational, and clinical research on gene mutations in human pathogenesis and physiology, including cancer and monogenic disorders. Except for results of clinical trials and Genome-Wide Association Studies (GWAS), we welcome biological, clinical, or theoretical model submissions with biomolecular experiments encompassing all aspects of gene mutations and methods of their analysis. Specifically, we encourage contributions to the following key areas of research:
- Gene mutation (e.g., germline and somatic mutation, point mutations, frameshift mutations, gene copy number alterations, gene fusions) except for chromosomal aberrations;
- Molecular basics of monogenic diseases (e.g., cystic fibrosis, neurofibromatosis type 1, alpha-1 antitrypsin deficiency);
- Molecular cancer research (e.g., oncogenic alterations, prognostic/predictive biomarkers, targeted therapies, resistance mechanisms);
- Molecular diagnostic techniques for gene mutation detection (e.g., next-generation sequencing);
- Epigenetics and proteomics in relation to gene mutation;
- Bioinformatics.
Dr. Adam Szpechciński
Guest Editor
Manuscript Submission Information
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Keywords
- germline and somatic mutation
- pathogenesis of cancer and chronic diseases
- molecular techniques for gene mutation detection
- biomarkers
- molecular diagnostics
- bioinformatics
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