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Special Issue "Clinical, Molecular, and Genetic Bases of Rare Inherited Coagulation Disorders (RICDs)"
Deadline for manuscript submissions: 29 February 2020.
Interests: genetic and molecular bases of rare inherited coagulopathies (fibrinogen, factor V, and factor XI deficiencies); genetic bases of complex traits (multiple sclerosis, Parkinson’s disease, myocardial infarction); association studies (candidate genes, genome-wide association studies); metabolism of RNA (alternative splicing, microRNA-mediated regulation)
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Interests: genetic and molecular bases of rare inherited coagulopathies; genetic bases of complex diseases; association studies (common and rare variants analysis); metabolism of RNA; bioinformatics
Rare Inherited Coagulation Disorders (RICDs), which are also frequently referred to as Rare Bleeding Disorders (RBDs), mainly comprise bleeding disorders with a very low prevalence in the general population. RICDs include inherited deficiencies or defects in fibrinogen (FI), prothrombin (FII), and coagulation factors V (FV), VII (FVII), X (FX), XI (FXI), and XIII (FXIII). These diseases can present as the isolated deficiency of one factor or, more rarely, as the combined deficiency of two (combined FV/FVIII deficiency) or many (vitamin K-dependent coagulation factor deficiency) coagulation factors. Collectively, RICDs account for approximately 3–5% of the coagulation disorders, the remaining 95–97% being represented by the more common X-linked hemophilias (deficiency of factor VIII or factor IX) and von Willebrand factor.
Notwithstanding the many efforts to better assess the epidemiology and underlying molecular mechanisms of RICDs, data on “true” prevalence rates and mutational spectra are still not comprehensive, especially for developing countries. In addition, even if a relatively large number of patients have been screened for mutations in the candidate genes, in most of the cases the underlying molecular mechanism has not been experimentally validated. This, besides leaving a knowledge gap between genetic data and the related pathophysiologic processes, is also responsible for a non-negligible proportion of errors in reporting “true” causal variants, a problem that is particularly frequent in rare recessive diseases.
In this respect, this Special Issue of Biomedicines will focus on providing updated mutational spectra, novel insights into genotype–phenotype correlations, as well as on giving insights into the molecular pathogenesis of RICDs. Indeed, spontaneous mutants in the population can represent a useful tool to inspect critical residues for coagulation factor assembly, secretion, function, and interaction with other proteins, as well as to elucidate molecular mechanisms underlying mRNA processing. This approach, that in the past century has been fundamental to the discovery of most of the coagulation factors and to understanding the mechanisms of blood coagulation, still represents an extraordinary tool for studying the molecular details of structure–function relationships of coagulation factors and for highlighting novel strategies to improve RICDs therapy, which in most cases is based on the availability of a suitable factor-replacement product.
Prof. Dr. Rosanna Asselta
Dr. Elvezia Maria Paraboschi
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 papers will be 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 1000 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.
- rare coagulation factor deficiencies;
- genetic bases;
- pathogenic mechanisms;
- expression of recombinant proteins;
- RNA processing;
- population genetics;
- clinical spectrum.