@article{MTMT:34742646,
	title = {Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations},
	url = {https://m2.mtmt.hu/api/publication/34742646},
	author = {Kállai, Judit and Gindele, Réka and Pénzes-Daku, Krisztina and Balogh, Gábor and Kissné Bogáti, Réka and Bécsi, Bálint and Katona, Éva and Oláh, Zsolt and Ilonczai, Péter and Boda, Zoltán and Róna-Tas, Ágnes and Nemes, László and Marton, Imelda and Bereczky, Zsuzsanna},
	doi = {10.3390/ijms25052893},
	journal-iso = {INT J MOL SCI},
	journal = {INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES},
	volume = {25},
	unique-id = {34742646},
	issn = {1661-6596},
	abstract = {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.},
	keywords = {surface plasmon resonance; antithrombin; Antithrombin deficiency; Expression study; In silico methods; SERPINC1 mutation},
	year = {2024},
	eissn = {1422-0067},
	orcid-numbers = {Gindele, Réka/0000-0002-4145-3335; Pénzes-Daku, Krisztina/0000-0003-0334-7571; Bereczky, Zsuzsanna/0000-0002-1483-3703}
}

@{MTMT:34560573,
	title = {Protokollok a klinikai kutatásokban},
	url = {https://m2.mtmt.hu/api/publication/34560573},
	author = {Bereczky, Zsuzsanna},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560573},
	year = {2024},
	pages = {111-121},
	orcid-numbers = {Bereczky, Zsuzsanna/0000-0002-1483-3703}
}

@{MTMT:34560558,
	title = {Hibalehetőségek az analitikus obszervációs tanulmányok tervezése és kivitelezése során; a hibák csökkentésének módszerei},
	url = {https://m2.mtmt.hu/api/publication/34560558},
	author = {Bereczky, Zsuzsanna and Muszbek, László},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560558},
	year = {2024},
	pages = {73-84},
	orcid-numbers = {Bereczky, Zsuzsanna/0000-0002-1483-3703; Muszbek, László/0000-0002-3798-9962}
}

@{MTMT:34560493,
	title = {A klinikai kutatások alaptípusai; hogyan határozza meg a tudományos kérdés a klinikai tanulmány típusát?},
	url = {https://m2.mtmt.hu/api/publication/34560493},
	author = {Bereczky, Zsuzsanna},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560493},
	year = {2024},
	pages = {43-47},
	orcid-numbers = {Bereczky, Zsuzsanna/0000-0002-1483-3703}
}

@{MTMT:34560458,
	title = {A helyes tudományos kérdésfeltevés; hogyan jutunk el az ötlettől a tudományos hipotézisek megfogalmazásáig?},
	url = {https://m2.mtmt.hu/api/publication/34560458},
	author = {Bereczky, Zsuzsanna},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560458},
	year = {2024},
	pages = {29-41},
	orcid-numbers = {Bereczky, Zsuzsanna/0000-0002-1483-3703}
}

@{MTMT:34560411,
	title = {A klinikai kutatások definíciója, szerepe az orvos- és egészségtudományi kutatásokban; a klinikai kutatások története},
	url = {https://m2.mtmt.hu/api/publication/34560411},
	author = {Bereczky, Zsuzsanna},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560411},
	year = {2024},
	pages = {19-27},
	orcid-numbers = {Bereczky, Zsuzsanna/0000-0002-1483-3703}
}

@book{MTMT:34559329,
	title = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	url = {https://m2.mtmt.hu/api/publication/34559329},
	isbn = {9789632269115},
	editor = {Bereczky, Zsuzsanna and Bagoly, Zsuzsa and Katona, Éva},
	publisher = {Medicina Könyvkiadó Zrt.},
	unique-id = {34559329},
	year = {2024},
	orcid-numbers = {Bereczky, Zsuzsanna/0000-0002-1483-3703; Bagoly, Zsuzsa/0000-0001-5314-5607; Katona, Éva/0000-0003-3476-794X}
}

@article{MTMT:34417430,
	title = {The association between EPCR gene p.Ser219Gly polymorphism and venous thromboembolism risk: a case–control study, meta-analysis, and a reproducibility study},
	url = {https://m2.mtmt.hu/api/publication/34417430},
	author = {Pituk, Dóra and Miklós, Tünde and Schlammadinger, Ágota and Rázsó, Katalin and Bereczky, Zsuzsanna},
	doi = {10.3389/fcvm.2023.1270093},
	journal-iso = {FRONT CARDIOVASC MED},
	journal = {FRONTIERS IN CARDIOVASCULAR MEDICINE},
	volume = {10},
	unique-id = {34417430},
	issn = {2297-055X},
	year = {2023},
	eissn = {2297-055X},
	orcid-numbers = {Bereczky, Zsuzsanna/0000-0002-1483-3703}
}

@article{MTMT:34395302,
	title = {Clinical Investigation of Hereditary and Acquired Thrombophilic Factors in Patients with Venous and Arterial Thromboembolism},
	url = {https://m2.mtmt.hu/api/publication/34395302},
	author = {Kovács, Erzsebet and Bereczky, Zsuzsanna and Kerenyi, Adrienne and Laczik, Renáta Erika and Nagy, Valéria and Kovács, Dávid Ágoston and Kovács, Sándor and Pfliegler, György},
	doi = {10.2147/IJGM.S412551},
	journal-iso = {INT J GEN MED},
	journal = {INTERNATIONAL JOURNAL OF GENERAL MEDICINE},
	volume = {16},
	unique-id = {34395302},
	abstract = {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.},
	year = {2023},
	eissn = {1178-7074},
	pages = {5425-5437},
	orcid-numbers = {Kovács, Erzsebet/0000-0002-3896-6092; Bereczky, Zsuzsanna/0000-0002-1483-3703}
}

@article{MTMT:34133462,
	title = {A combination of strongly associated prothrombotic single nucleotide polymorphisms could efficiently predict venous thrombosis risk},
	url = {https://m2.mtmt.hu/api/publication/34133462},
	author = {Natae, Shewaye Fituma and Merzah, Mohammed and Sándor, János and Ádány, Róza and Bereczky, Zsuzsanna and Fiatal, Szilvia},
	doi = {10.3389/fcvm.2023.1224462},
	journal-iso = {FRONT CARDIOVASC MED},
	journal = {FRONTIERS IN CARDIOVASCULAR MEDICINE},
	volume = {10},
	unique-id = {34133462},
	issn = {2297-055X},
	year = {2023},
	eissn = {2297-055X},
	orcid-numbers = {Bereczky, Zsuzsanna/0000-0002-1483-3703}
}