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001-es BibID:	BIBFORM120395
035-os BibID:	(Scopus)85187431460
Első szerző:	Kállai Judit (molekuláris biológus)
Cím:	Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations / 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
Dátum:	2024
ISSN:	1422-0067
Megjegyzések:	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.Leu270Argfs14, 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.Leu270Argfs14, 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.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk antithrombin antithrombin deficiency SERPINC1 mutation expression study surface plasmon resonance in silico methods
Megjelenés:	International Journal Of Molecular Sciences. - 25 : 5 (2024), p. 1-19.
További szerzők:	Gindele Réka (1987-) (molekuláris biológus) Pénzes-Daku Krisztina (1978-) (biológus) Balogh Gábor Kissné Bogáti Réka (1988-) (tudományos segédmunkatárs) Bécsi Bálint (1981-) (vegyészmérnök) Katona Éva (1986-) (molekuláris biológus) Oláh Zsolt (1974-) (belgyógyász) Ilonczai Péter (1977-) (orvos, belgyógyász, haematológus szakorvos) Boda Zoltán (1947-) (belgyógyász, haematologus, klinikai onkológus) Róna-Tas Ágnes Nemes László Marton Imelda Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos)
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001-es BibID:	BIBFORM089468
035-os BibID:	(cikkazonosító)8426 (scopus)85096012315 (wos)000594920700001
Első szerző:	Pénzes-Daku Krisztina (biológus)
Cím:	Terminal Phase Components of the Clotting Cascade in Patients with End-Stage Renal Disease Undergoing Hemodiafiltration or Hemodialysis Treatment / Pénzes Krisztina, Hurják Boglárka, Katona Éva, Becs Gergely, Balla József, Muszbek László
Dátum:	2020
ISSN:	1661-6596 1422-0067
Megjegyzések:	Hemostasis disorder in patients with end-stage renal disease (ESRD) is frequently associated with bleeding diathesis but it may also manifest in thrombotic complications. Analysis of individual coagulation and fibrinolytic factors may shed light on the background of this paradox situation. Here we explored components essential for fibrin formation/stabilization in ESRD patients being on maintenance hemodiafiltration (HDF) or hemodialysis (HD). Pre-dialysis fibrinogen, factor XIII (FXIII) antigen concentrations and FXIII activity were elevated, while ?2-plasmin inhibitor (?2PI) activity decreased. The inflammatory status, as characterized by C-reactive protein (CRP) was a key determinant of fibrinogen concentration, but not of FXIII and ?2PI levels. During a 4-h course of HDF or HD, fibrinogen concentration and FXIII levels gradually elevated. When compensated for the change in plasma water, i.e., normalized for plasma albumin concentration, only FXIII elevation remained significant. There was no difference between HDF and HD treatments. Individual HDF treatment did not influence ?2PI activity, however after normalization it decreased significantly. HD treatment had a different effect, ?2PI activities became elevated but the elevation disappeared after normalization. Elevated fibrinogen and FXIII levels in ESRD patients might contribute to the increased thrombosis risk, while decreased ?2PI activity might be associated with elevated fibrinolytic potential.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk 2-plasmin inhibitor end-stage renal disease factor XIII fibrinogen hemodiafiltration hemodialysis
Megjelenés:	International Journal Of Molecular Sciences. - 21 (2020), p. 1-15. -
További szerzők:	Hurják Boglárka Katona Éva (1961-) (klinikai biokémikus) Becs Gergely Balla József (1959-) (belgyógyász, nephrológus) Muszbek László (1942-) (haematológus, kutató orvos)
Pályázati támogatás:	GINOP-2.3.2-15-2016-00050 GINOP
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