Genomes and Genes
Affiliation: University of Bonn
- Ivaskevicius V, Seitz R, Kohler H, Schroeder V, Muszbek L, Ariens R, et al. International registry on factor XIII deficiency: a basis formed mostly on European data. Thromb Haemost. 2007;97:914-21 pubmed..f13-database.de) will provide clinicians and scientists working on FXIII deficiency with a helpful tool to improve patient care and direct future studies towards better understanding and treatment of the disease. ..
- Ivaskevicius V, Ruhl H, Detarsio G, Biswas A, Gupta S, Davoli M, et al. A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences. Hamostaseologie. 2016;36:S34-S38 pubmed..Both alternatives would disturb the regular secretion of the beta-chain. The novel missense mutation in the FGB gene causes afibrinogenemia most probably by affecting the secretion of the fibrinogen beta-chain. ..
- Ivaskevicius V, Jurgutis R, Rost S, Muller A, Schmitt C, Wulff K, et al. Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. Br J Haematol. 2001;112:1062-70 pubmed..The information provided by this registry will be helpful for monitoring the treatment of Lithuanian haemophilia patients and also for reliable genetic counselling of the affected families in the future. ..
- Ivaskevicius V, Windyga J, Baran B, Bykowska K, Daugela L, Watzka M, et al. The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene. Blood Coagul Fibrinolysis. 2008;19:531-534 pubmed publisher..Tyr135Asn). This variant represents the third missense mutation found in the MCFD2 gene and most likely disrupts the MCFD2-LMAN1 interaction, thus leading to the disease phenotype. ..
- Ivaskevicius V, Biswas A, Bevans C, Schroeder V, Kohler H, Rott H, et al. Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function. Haematologica. 2010;95:956-62 pubmed publisher..Future in vitro expression studies of the factor XIII mutations are required to confirm their pathological mechanisms. ..
- Ivaskevicius V, Biswas A, Loreth R, Schroeder V, Ohlenforst S, Rott H, et al. Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency. Haemophilia. 2010;16:675-82 pubmed publisher..The present study reports on a fairly common prevalence of F13B gene defects in the German population. The regions in and around the cysteine disulphide bonds in the FXIII-B protein may be regions prone to frequent mutations. ..
- Ivaskevicius V, Biswas A, Thomas A, Lyonga S, Rott H, Halimeh S, et al. A common F13A1 intron 1 variant IVS1+12(A) is associated with mild FXIII deficiency in Caucasian population. Ann Hematol. 2013;92:975-9 pubmed publisher..001). The greater frequency of the IVS1+12(A) variant among C2 cohort patients suggests that this polymorphism is associated with mild FXIII deficiency. ..
- IvaÅ¡keviÄius V, Thomas A, Biswas A, Ensikat H, Schmitt U, Horneff S, et al. A novel fibrinogen Î³ chain frameshift deletion (c.637delT) in a patient with hypodysfibrinogenemia associated with thrombosis. Hamostaseologie. 2015;35 Suppl 1:S27-31 pubmed..Moreover this mutation seems to increase the risk of thrombosis warranting long term anticoagulation possibly in a combination with antiplatelet drugs. ..
- IvaÅ¡keviÄius V, Goldmann G, Biswas A, Westhofen P, Thomas A, Marquardt N, et al. Neoplasm-induced bleeding in inherited, heterozygous FXIII-AÂ deficiency. Hamostaseologie. 2015;35 Suppl 1:S32-5 pubmed..It is also a rare example demonstrating the benefit of FXIII genotyping besides the expected acquired FXIII deficiency possibly due to neoplasm induced increased consumption by elevated crosslinking of fibrin fibers. ..
- Ivaskevicius V, Pezeshkpoor B, Biswas A, Goldmann G, Horneff S, Gimbutyte M, et al. Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania. Hamostaseologie. 2016;36:S29-S33 pubmed..Our results confirm the rare event of Haemophilia A and haemophilia B in the same patient originating from two distinct genetic defects in F8 and F9 genes. ..