TY - JOUR AU - Kállai, Judit AU - Gindele, Réka AU - Pénzes-Daku, Krisztina AU - Balogh, Gábor AU - Kissné Bogáti, Réka AU - Bécsi, Bálint AU - Katona, Éva AU - Oláh, Zsolt AU - Ilonczai, Péter AU - Boda, Zoltán AU - Róna-Tas, Ágnes AU - Nemes, László AU - Marton, Imelda AU - Bereczky, Zsuzsanna TI - Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations JF - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES J2 - INT J MOL SCI VL - 25 PY - 2024 IS - 5 PG - 19 SN - 1661-6596 DO - 10.3390/ijms25052893 UR - https://m2.mtmt.hu/api/publication/34742646 ID - 34742646 AB - Antithrombin (AT) is the major plasma inhibitor of thrombin (FIIa) and activated factor X (FXa), and antithrombin deficiency (ATD) is one of the most severe thrombophilic disorders. In this study, we identified nine novel AT mutations and investigated their genotype-phenotype correlations. Clinical and laboratory data from patients were collected, and the nine mutant AT proteins (p.Arg14Lys, p.Cys32Tyr, p.Arg78Gly, p.Met121Arg, p.Leu245Pro, p.Leu270Argfs*14, p.Asn450Ile, p.Gly456delins_Ala_Thr and p.Pro461Thr) were expressed in HEK293 cells; then, Western blotting, N-Glycosidase F digestion, and ELISA were used to detect wild-type and mutant AT. RT-qPCR was performed to determine the expression of AT mRNA from the transfected cells. Functional studies (AT activity in the presence and in the absence of heparin and heparin-binding studies with the surface plasmon resonance method) were carried out. Mutations were also investigated by in silico methods. Type I ATD caused by altered protein synthesis (p.Cys32Tyr, p.Leu270Argfs*14, p.Asn450Ile) or secretion disorder (p.Met121Arg, p.Leu245Pro, p.Gly456delins_Ala_Thr) was proved in six mutants, while type II heparin-binding-site ATD (p.Arg78Gly) and pleiotropic-effect ATD (p.Pro461Thr) were suggested in two mutants. Finally, the pathogenic role of p.Arg14Lys was equivocal. We provided evidence to understand the pathogenic nature of novel SERPINC1 mutations through in vitro expression studies. LA - English DB - MTMT ER - TY - CHAP AU - Bereczky, Zsuzsanna ED - Bereczky, Zsuzsanna ED - Bagoly, Zsuzsa ED - Katona, Éva TI - Protokollok a klinikai kutatásokban T2 - Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig PB - Medicina Könyvkiadó Zrt. CY - Budapest SN - 9789632269115 PY - 2024 SP - 111 EP - 121 PG - 11 UR - https://m2.mtmt.hu/api/publication/34560573 ID - 34560573 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Bereczky, Zsuzsanna AU - Muszbek, László ED - Bereczky, Zsuzsanna ED - Bagoly, Zsuzsa ED - Katona, Éva TI - Hibalehetőségek az analitikus obszervációs tanulmányok tervezése és kivitelezése során; a hibák csökkentésének módszerei T2 - Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig PB - Medicina Könyvkiadó Zrt. CY - Budapest SN - 9789632269115 PY - 2024 SP - 73 EP - 84 PG - 12 UR - https://m2.mtmt.hu/api/publication/34560558 ID - 34560558 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Bereczky, Zsuzsanna ED - Bereczky, Zsuzsanna ED - Bagoly, Zsuzsa ED - Katona, Éva TI - A klinikai kutatások alaptípusai; hogyan határozza meg a tudományos kérdés a klinikai tanulmány típusát? T2 - Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig PB - Medicina Könyvkiadó Zrt. CY - Budapest SN - 9789632269115 PY - 2024 SP - 43 EP - 47 PG - 5 UR - https://m2.mtmt.hu/api/publication/34560493 ID - 34560493 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Bereczky, Zsuzsanna ED - Bereczky, Zsuzsanna ED - Bagoly, Zsuzsa ED - Katona, Éva TI - A helyes tudományos kérdésfeltevés; hogyan jutunk el az ötlettől a tudományos hipotézisek megfogalmazásáig? T2 - Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig PB - Medicina Könyvkiadó Zrt. CY - Budapest SN - 9789632269115 PY - 2024 SP - 29 EP - 41 PG - 13 UR - https://m2.mtmt.hu/api/publication/34560458 ID - 34560458 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Bereczky, Zsuzsanna ED - Bereczky, Zsuzsanna ED - Bagoly, Zsuzsa ED - Katona, Éva TI - A klinikai kutatások definíciója, szerepe az orvos- és egészségtudományi kutatásokban; a klinikai kutatások története T2 - Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig PB - Medicina Könyvkiadó Zrt. CY - Budapest SN - 9789632269115 PY - 2024 SP - 19 EP - 27 PG - 9 UR - https://m2.mtmt.hu/api/publication/34560411 ID - 34560411 LA - Hungarian DB - MTMT ER - TY - BOOK ED - Bereczky, Zsuzsanna ED - Bagoly, Zsuzsa ED - Katona, Éva TI - Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig PB - Medicina Könyvkiadó Zrt. CY - Budapest PY - 2024 SN - 9789632269115 UR - https://m2.mtmt.hu/api/publication/34559329 ID - 34559329 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Pituk, Dóra AU - Miklós, Tünde AU - Schlammadinger, Ágota AU - Rázsó, Katalin AU - Bereczky, Zsuzsanna TI - The association between EPCR gene p.Ser219Gly polymorphism and venous thromboembolism risk: a case–control study, meta-analysis, and a reproducibility study JF - FRONTIERS IN CARDIOVASCULAR MEDICINE J2 - FRONT CARDIOVASC MED VL - 10 PY - 2023 SN - 2297-055X DO - 10.3389/fcvm.2023.1270093 UR - https://m2.mtmt.hu/api/publication/34417430 ID - 34417430 LA - English DB - MTMT ER - TY - JOUR AU - Kovács, Erzsebet AU - Bereczky, Zsuzsanna AU - Kerenyi, Adrienne AU - Laczik, Renáta Erika AU - Nagy, Valéria AU - Kovács, Dávid Ágoston AU - Kovács, Sándor AU - Pfliegler, György TI - Clinical Investigation of Hereditary and Acquired Thrombophilic Factors in Patients with Venous and Arterial Thromboembolism JF - INTERNATIONAL JOURNAL OF GENERAL MEDICINE J2 - INT J GEN MED VL - 16 PY - 2023 SP - 5425 EP - 5437 PG - 13 SN - 1178-7074 DO - 10.2147/IJGM.S412551 UR - https://m2.mtmt.hu/api/publication/34395302 ID - 34395302 AB - Background: The clinical relevance of thrombophilic laboratory factors, especially the “mild” ones, and the need for their screening is not generally recommended in venous (VTE) and/or arterial (ATE) thromboembolism. Methods: Our aim was to investigate possible associations between comorbidities and 16 inherited/acquired “severe” and “mild” laboratory thrombophilic factors (detailed in introduction) in patients (n=348) with VTE/ATE without a serious trigger (high-risk surgical intervention, active cancer and/or chemo-radiotherapy). Cases with VTE/ATE were enrolled when the thrombotic event occurred under the age of 40, in case of positive family history, recurrent thromboembolism, idiopathic event or unusual location. Patients without a detailed thrombophilia screening or who suffered from both ATE/VTE were excluded to find potential distinct thrombosis type specific thrombophilic risks. The possible role of “mild” factor accumulation was also investigated in VTE (n=266). Results: Elevation of factor VIII clotting activity was associated with VTE rather than ATE. Varicose veins together with postthrombotic syndrome were strongly related to several “mild” factors. Besides “severe” we found that the “mild” thrombophilic factors were also strongly associated with VTE/ATE. Comorbidities/conditions such as diabetes and smoking were generally associated with hyperlipidemia; moreover, both had a correlation with lipoprotein (a) in VTE. We also revealed an important contribution of “mild” factors in increasing trends of several types and localizations of VTE. Conclusion: In summary, besides the “severe” thrombophilic factors, the “mild” ones also seem to play a non-negligible role in the manifestation of thrombosis, especially in combination. Therefore, an extended screening might be useful in the personalized recommendation of antithrombotic prophylaxis. LA - English DB - MTMT ER - TY - JOUR AU - Natae, Shewaye Fituma AU - Merzah, Mohammed AU - Sándor, János AU - Ádány, Róza AU - Bereczky, Zsuzsanna AU - Fiatal, Szilvia TI - A combination of strongly associated prothrombotic single nucleotide polymorphisms could efficiently predict venous thrombosis risk JF - FRONTIERS IN CARDIOVASCULAR MEDICINE J2 - FRONT CARDIOVASC MED VL - 10 PY - 2023 SN - 2297-055X DO - 10.3389/fcvm.2023.1224462 UR - https://m2.mtmt.hu/api/publication/34133462 ID - 34133462 LA - English DB - MTMT ER -