Special Issue "Human Single Nucleotide Polymorphisms and Disease Diagnostics"
Deadline for manuscript submissions: 30 April 2014
Prof. Dr. Emil Alexov
Computational Biophysics and Bioinformatics, Department of Physics, Clemson University, Clemson, SC 29634, USA
Phone: +1 864 656 5307
Fax: +1 864 656 0805
Interests: computational modeling of biological macromolecules
Human DNA is not identical among individuals and this causes natural differences among races and ethnic populations, and also among healthy individuals and individuals susceptible to diseases. While natural differences between humans are harmless and are essential to maintain the diversity of human population, the DNA defects leading to high risks of disease are unwanted and need to be discovered, in the best case scenario, even before the patient gets sick. This approach, known as personalized diagnostics is currently being extensively developed by many researchers in both academia and corporate industry. A successful development of tools, both computational and experimental, for predicting disease-causing DNA differences would have several important outcomes: (a) it would allow patients at high risk to develop this disease to be diagnosed ahead of the time and to be prescribed preventive treatment; (b) it would allow already sick patients to receive personalized diagnostics and a treatment more suitable for their genetic disorder; and (c) it would improve parental screening for those who are planning to have children. In the long run, such a development will be at the core of personalized medicine allowing therapy to be individually tailored to the patient’s own genome. This Special Issue will contain articles describing new advances in the science of understanding human polymorphism and disease diagnostics.
Professor Dr. Emil Alexov
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. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as 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 refereed through a peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed Open Access monthly journal published by MDPI.
- single nucleotide polymorphism (SNP)
- missense mutations
- personalized diagnostics
- personalized medicine
- human DNA variations
- disease-causing mutations
Article: The Brachyury Gly177Asp SNP Is not Associated with a Risk of Skull Base Chordoma in the Chinese Population
Int. J. Mol. Sci. 2013, 14(11), 21258-21265; doi:10.3390/ijms141121258
Received: 27 May 2013; in revised form: 25 September 2013 / Accepted: 15 October 2013 / Published: 25 October 2013| Download PDF Full-text (205 KB) | Download XML Full-text
Article: Analysis of the rs10046 Polymorphism of Aromatase (CYP19) in Premenopausal Onset of Human Breast Cancer
Int. J. Mol. Sci. 2014, 15(1), 712-724; doi:10.3390/ijms15010712
Received: 5 December 2013; in revised form: 23 December 2013 / Accepted: 25 December 2013 / Published: 7 January 2014| Download PDF Full-text (303 KB) | Download XML Full-text
Article: The hOGG1 Ser326Cys Gene Polymorphism and the Risk of Coronary Ectasia in the Chinese Population
Int. J. Mol. Sci. 2014, 15(1), 1671-1682; doi:10.3390/ijms15011671
Received: 14 November 2013; in revised form: 6 January 2014 / Accepted: 20 January 2014 / Published: 22 January 2014| Download PDF Full-text (314 KB) | Download XML Full-text
Article: Role of mtDNA Haplogroups in the Prevalence of Knee Osteoarthritis in a Southern Chinese Population
Int. J. Mol. Sci. 2014, 15(2), 2646-2659; doi:10.3390/ijms15022646
Received: 1 January 2014; in revised form: 15 January 2014 / Accepted: 22 January 2014 / Published: 14 February 2014| Download PDF Full-text (341 KB)
Article: E26 Transformation-Specific-1 (ETS1) and WDFY Family Member 4 (WDFY4) Polymorphisms in Chinese Patients with Rheumatoid Arthritis
Int. J. Mol. Sci. 2014, 15(2), 2712-2721; doi:10.3390/ijms15022712
Received: 5 January 2014; in revised form: 30 January 2014 / Accepted: 11 February 2014 / Published: 17 February 2014| Download PDF Full-text (192 KB) | Supplementary Files
Article: Association between Single Nucleotide Polymorphism rs1044925 and the Risk of Coronary Artery Disease and Ischemic Stroke
Int. J. Mol. Sci. 2014, 15(3), 3546-3559; doi:10.3390/ijms15033546
Received: 28 November 2013; in revised form: 30 January 2014 / Accepted: 13 February 2014 / Published: 26 February 2014| Download PDF Full-text (116 KB)
Communication: Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association?
Int. J. Mol. Sci. 2014, 15(3), 3834-3841; doi:10.3390/ijms15033834
Received: 7 January 2014; in revised form: 18 February 2014 / Accepted: 20 February 2014 / Published: 3 March 2014| Download PDF Full-text (244 KB)
Last update: 2 October 2013