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Special Issue "Genetic Basis of Fibrinogen Disorders"
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: closed (15 November 2017).
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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Congenital fibrinogen disorders, including afibrinogenemia, hypofibrinogenemia, and dysfibrinogenemia, are estimated to represent about 8% of rare inherited coagulopathies. In addition to the most obvious and frequent consequences of fibrinogen disorders, i.e., hemorrhagic and/or thrombotic manifestations, specific point mutations in the γ and in the Aα chain genes can also lead to organ damage; in the liver, due to endoplasmic accumulation of mutant fibrinogen molecules, and in the kidney as a result of an increased susceptibility to proteolysis of aggregation-prone fibrinogen peptides, leading to systemic amyloidosis.
Notwithstanding the significant effort to better assess their epidemiology and underlying molecular mechanisms, data on “true” prevalence rates, mutational spectra, and clinical management of these disorders are still not comprehensive.
In this Special Issue of the International Journal of Molecular Sciences, the focus will be the “Genetic Basis of Fibrinogen Disorders”, including insights into epidemiologic data, mutational spectra, and molecular pathogenesis. In this respect, studying fibrinogen spontaneous mutants in the population can represent a useful tool to inspect critical residues for fibrinogen assembly, secretion, function, and interaction with other proteins, as well as to elucidate molecular mechanisms underlying fibrinogen-chain mRNA processing. In addition, although the precise knowledge of the genetic defects responsible for fibrinogen disorders in each patient is of limited clinical utility, as genotype/phenotype correlations are weak, it still provides a valuable tool for diagnosis confirmation, identification of potential carriers, and prenatal diagnosis.
Assoc. Prof. Dr. Rosanna Asselta
Manuscript Submission Information
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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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.
- Hepatic fibrinogen storage disease
- Systemic amyloidosis
- Mutational screening
- Expression studies
- Fibrinogen assembly and secretion
- Regulation of fibrinogen expression