@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}
}

@article{MTMT:34719971,
	title = {Case report: Complex evaluation of coagulation, fibrinolysis and inflammatory cytokines in a SARS-CoV-2 infected pregnant woman with fetal loss},
	url = {https://m2.mtmt.hu/api/publication/34719971},
	author = {Tóth, Eszter Lilla and Orbán-Kálmándi, Rita Angéla and Bagoly, Zsuzsa and Lóczi, Linda and Deli, Tamás and Török, Olga and Molnár, Sarolta and Baráth, Sándor and Singh, Parvind and Hevessy Zsuzsanna, Dóra and Katona, Éva and Fagyas, Miklós and Szabó, Attila Ádám and Molnár, Szabolcs and Krasznai, Zoárd Tibor},
	doi = {10.3389/fimmu.2024.1329236},
	journal-iso = {FRONT IMMUNOL},
	journal = {FRONTIERS IN IMMUNOLOGY},
	volume = {15},
	unique-id = {34719971},
	issn = {1664-3224},
	year = {2024},
	eissn = {1664-3224},
	pages = {1},
	orcid-numbers = {Orbán-Kálmándi, Rita Angéla/0000-0002-2155-8279; Bagoly, Zsuzsa/0000-0001-5314-5607; Katona, Éva/0000-0003-3476-794X}
}

@{MTMT:34560620,
	title = {Pályázatok írása, költségtervezés},
	url = {https://m2.mtmt.hu/api/publication/34560620},
	author = {Bagoly, Zsuzsa},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560620},
	year = {2024},
	pages = {275-283},
	orcid-numbers = {Bagoly, Zsuzsa/0000-0001-5314-5607}
}

@{MTMT:34560606,
	title = {Intézményen kívüli, multicentrikus és nemzetközi klinikai tanulmányok},
	url = {https://m2.mtmt.hu/api/publication/34560606},
	author = {Bagoly, Zsuzsa},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560606},
	year = {2024},
	pages = {189-198},
	orcid-numbers = {Bagoly, Zsuzsa/0000-0001-5314-5607}
}

@{MTMT:34560595,
	title = {A diagnosztikus tesztek fejlesztésének és validálásának szempontjai},
	url = {https://m2.mtmt.hu/api/publication/34560595},
	author = {Katona, Éva},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560595},
	year = {2024},
	pages = {153-171},
	orcid-numbers = {Katona, Éva/0000-0003-3476-794X}
}

@{MTMT:34560590,
	title = {Kérdőívek tervezése, interjúk},
	url = {https://m2.mtmt.hu/api/publication/34560590},
	author = {Bagoly, Zsuzsa},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560590},
	year = {2024},
	pages = {139-151},
	orcid-numbers = {Bagoly, Zsuzsa/0000-0001-5314-5607}
}

@{MTMT:34560577,
	title = {A klinikai vizsgálatok megvalósíthatósága, előfeltételek},
	url = {https://m2.mtmt.hu/api/publication/34560577},
	author = {Bagoly, Zsuzsa},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560577},
	year = {2024},
	pages = {123-137},
	orcid-numbers = {Bagoly, Zsuzsa/0000-0001-5314-5607}
}

@{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:34560534,
	title = {Az analitikus obszervációs klinikai tanulmányok típusai, tervezésük sajátosságai},
	url = {https://m2.mtmt.hu/api/publication/34560534},
	author = {Katona, Éva},
	booktitle = {Klinikai kutatások - átfogó ismeretek a tervezéstől a közlésig},
	unique-id = {34560534},
	year = {2024},
	pages = {55-70},
	orcid-numbers = {Katona, Éva/0000-0003-3476-794X}
}