Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Réka Gindele"'
Autor:
Judit Kállai, Réka Gindele, Krisztina Pénzes-Daku, Gábor Balogh, Réka Bogáti, Bálint Bécsi, Éva Katona, Zsolt Oláh, Péter Ilonczai, Zoltán Boda, Ágnes Róna-Tas, László Nemes, Imelda Marton, Zsuzsanna Bereczky
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2893 (2024)
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 investigate
Externí odkaz:
https://doaj.org/article/d3799ccc75994a64a076a6fd41045381
Autor:
Zsuzsanna Bereczky, Réka Gindele, Szilvia Fiatal, Marianna Speker, Tünde Miklós, László Balogh, Zoltán Mezei, Zsuzsanna Szabó, Róza Ádány
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 7 (2021)
Background: Antithrombin (AT) is one of the most important regulator of hemostasis. AT Budapest 3 (ATBp3) is a prevalent type II heparin-binding site (IIHBS) deficiency due to founder effect. Thrombosis is a complex disease including arterial (ATE) a
Externí odkaz:
https://doaj.org/article/c8503f5cc9c94c6ba830f95bc1db18bb
Autor:
Tamás Major, Csaba Csobay-Novák, Réka Gindele, Zsuzsanna Szabó, László Bora, Natália Jóni, Tamás Rácz, Tamás Karosi, Zsuzsanna Bereczky
Publikováno v:
Journal of International Medical Research, Vol 48 (2020)
Hereditary haemorrhagic telangiectasia (HHT; Osler–Weber–Rendu disease) is an autosomal dominant vascular disease characterized by nosebleeds, mucocutaneous telangiectases, visceral arteriovenous malformations (AVM) and a first-degree relative wi
Externí odkaz:
https://doaj.org/article/82f073717eab40d6a09c4c7607c71d6b
Autor:
Tamás Major, Zsuzsanna Bereczky, Réka Gindele, Gábor Balogh, Benedek Rácz, László Bora, Zsolt Kézsmárki, Boglárka Brúgós, György Pfliegler
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 17, p 3774 (2021)
Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000–1:10,000 [...]
Externí odkaz:
https://doaj.org/article/e252f614712b499a80954dbc8eb204d9
Autor:
Réka Gindele, Krisztina Pénzes-Daku, Gábor Balogh, Judit Kállai, Réka Bogáti, Bálint Bécsi, Ferenc Erdődi, Éva Katona, Zsuzsanna Bereczky
Publikováno v:
Biomolecules, Vol 11, Iss 4, p 544 (2021)
Antithrombin (AT) is a serine protease inhibitor, its activity is highly accelerated by heparin. Mutations at the heparin-binding region lead to functional defect, type II heparin-binding site (IIHBS) AT deficiency. The aim of this study was to inves
Externí odkaz:
https://doaj.org/article/f502af7ffe504ea482bb9d1edd87e030
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 8, p 1682 (2021)
A founder effect can result from the establishment of a new population by individuals from a larger population or bottleneck events. Certain alleles may be found at much higher frequencies because of genetic drift immediately after the founder event.
Externí odkaz:
https://doaj.org/article/ad00c14b946e4982b6f8b0fc4da4c950
Autor:
Réka Gindele, Adrienne Kerényi, Judit Kállai, György Pfliegler, Ágota Schlammadinger, István Szegedi, Tamás Major, Zsuzsanna Szabó, Zsuzsa Bagoly, Csongor Kiss, János Kappelmayer, Zsuzsanna Bereczky
Publikováno v:
Life, Vol 11, Iss 3, p 202 (2021)
Diagnosis of rare bleeding disorders is challenging and there are several differential diagnostics issues. Next-generation sequencing (NGS) is a useful tool to overcome these problems. The aim of this study was to demonstrate the usefulness of molecu
Externí odkaz:
https://doaj.org/article/701e79842d7344f49c5b1ac8c1499b3c
Autor:
Maria S Infante, Réka Gindele, Zsolt Oláh, Marianna Speker, Isabel Zuazu, Carlos Bravo-Pérez, Péter Ilonczai, Laura Entrena, José María Navarro García, Asunción Mora-Casado, María Eugenia de la Morena-Barrio, Antonia Miñano, José Padilla, Ágota Schlammadinger, Vicente Vicente, Belén de la Morena-Barrio, Zsuzsanna Bereczky, Javier Corral, Juan J Rodríguez-Sevilla, Rosa Cifuentes-Riquelme
Publikováno v:
American Journal of Hematology. 96:1363-1373
Atresia of inferior vena cava (IVC) is a rare congenital malformation associated with high risk of venous thrombosis that still has unknown etiology, although intrauterine IVC thrombosis has been suggested to be involved. The identification of IVC at
Autor:
Zoltán A. Mezei, Zsuzsanna Bereczky, Éva Katona, Réka Gindele, Emília Balogh, Szilvia Fiatal, László Balogh, István Czuriga, Róza Ádány, István Édes, László Muszbek
Publikováno v:
International Journal of Molecular Sciences, Vol 16, Iss 1, Pp 1143-1159 (2015)
The aim of the case-control study was to explore the effect of coagulation factor XIII (FXIII) B subunit (FXIII-B) polymorphisms on the risk of coronary artery disease, and on FXIII levels. In the study, 687 patients admitted for coronary angiography
Externí odkaz:
https://doaj.org/article/68fe5a4e71424a73b4e3990dd1999210
Autor:
Gyula, Remenyi, Zsuzsanna, Bereczky, Réka, Gindele, Aniko, Ujfalusi, Arpad, Illes, Miklos, Udvardy
Publikováno v:
Pathology and Oncology Research
Increased red blood cell count may result from primary erythrocytosis (polycythemia vera), but it is often due to secondary causes with increased erythropoietin levels. Secondary erythrocytosis may also be congenital due to different gene mutations o