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001-es BibID:	BIBFORM071628
035-os BibID:	(WoS)000409191200004 (Scopus)85028760809
Első szerző:	Menegatti, Marzia
Cím:	Minimal factor XIII activity level to prevent major spontaneous bleeds / Menegatti M., Palla R., Boscarino M., Bucciarelli P., Muszbek L., Katona E., Makris M., Peyvandi F.
Dátum:	2017
ISSN:	1538-7933
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Journal Of Thrombosis And Haemostasis. - 15 (2017), p. 1728-1736. -
További szerzők:	Palla Roland Boscarino, M. Bucciarelli, P. Muszbek László (1942-) (haematológus, kutató orvos) Katona Éva (1961-) (klinikai biokémikus) Makris, Michael Peyvandi, Flora
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat DOI
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001-es BibID:	BIBFORM030401
Első szerző:	Muszbek László (haematológus, kutató orvos)
Cím:	Novel aspects of factor XIII deficiency / Muszbek László, Bagoly Zsuzsa, Cairo Andrea, Peyvandi Flora
Dátum:	2011
ISSN:	1065-6251
Megjegyzések:	PURPOSE OF REVIEW: Here we review recent developments concerning the diagnosis, classification and treatment of factor XIII (FXIII) deficiency and new findings related to the pathogenesis of the disease. RECENT FINDINGS: Most recently, the International Society on Thrombosis and Haemostasis, Scientific and Standardization Committee published a guideline for the diagnosis and classification of FXIII deficiencies. Since 2009, three novel mutations causing severe bleeding diathesis were discovered in the FXIII-A gene and one in the FXIII-B gene. A newly described FXIII-A deficiency was of the extremely rare qualitative type II deficiency. The first well established founder effect was reported for a causative FXIII-A mutation. More than a quarter of all FXIII-A deficiencies are due to autoantibody, among them the first case of deficiency caused by anti-FXIII-B autoantibody was reported in the last 2 years. The safety and effectiveness of plasma FXIII concentrate for prophylaxis and treatment is now well established. The new recombinant FXIII product is currently in phase III clinical trial and the preliminary data are promising. SUMMARY: FXIII deficiency is considered the most underdiagnosed bleeding diathesis. The recommended algorithm for its diagnosis and classification could improve the diagnostic efficiency. The preferred choice for substitution therapy is FXIII concentrate (plasma-derived or, in the future, recombinant).
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Molekuláris Medicina
Megjelenés:	Current Opinion In Hematology. - 18 : 5 (2011), p. 366-372. -
További szerzők:	Bagoly Zsuzsa (1978-) (orvos) Cairo, Andrea Peyvandi, Flora
Pályázati támogatás:	TÁMOP-4.2.1/B-09/1/KONV-2010-0007 TÁMOP A véralvadás XIII-as faktorának (FXIII) struktúrája, funkciója, előfordulása egyéb testnedvekben és kapcsolata trombotikus megbetegedésekkel
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001-es BibID:	BIBFORM006787
Első szerző:	Peyvandi, Flora
Cím:	Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency / Peyvandi, F., Tagliabue, L., Menegatti, M., Karimi, M., Komaromi, I., Katona, E., Muszbek, L., Mannucci, P. M.
Dátum:	2004
ISSN:	1059-7794
Megjegyzések:	Factor XIII (FXIII) deficiency is a very rare severe autosomal bleeding disorder with a frequency of 1:2,000,000 in the general population and only a few patients have been genetically characterized so far. We report a phenotype-genotype characterization of 10 unrelated Iranian patients. Two FXIII (transglutaminase) activity assays showed no FXIII activity, except a conserved residual activity in patients receiving prophylactic substitution treatment. FXIII antigen concentrations measured by two immunoassays were comparable. Genotype characterization identified four novel mutations (2 missense and 2 small deletions) and two previously reported missense mutations in the FXIII A subunit gene (F13A). Molecular modeling was carried out to reveal the structural consequences of the missense mutations, that caused the replacement of an arginine residue involved in the formation of structurally important extensive hydrogen-bonded network. The replacements [c.320G>A (p.Arg77His) in the beta-sandwich, c.868C>T (p.Arg260Cys), c.869G>A (p.Arg260His) and c.1236G>T (p.Arg382Ser) in the core domain] resulted in the loss or impairment of such H-bonded network. Energy decomposition analysis demonstrated that this situation leads to the instability and perhaps to the incorrect folding of the A subunit, that would explain the development of severe FXIII deficiency.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Adult Child Child, Preschool DNA Mutational Analysis Factor XIII Factor XIII Deficiency Female Genotype Humans Male Middle Aged Models, Molecular Mutation, Missense Phenotype
Megjelenés:	Human mutation. - 23 : 1 (2004), p. 98-107. -
További szerzők:	Tagliabue, Liliana Menegatti, Marzia Karimi, Mehran Komáromi István (1957-) (vegyész, molekuláris biológus, biokémikus) Katona Éva (1961-) (klinikai biokémikus) Muszbek László (1942-) (haematológus, kutató orvos) Mannucci, Pier Mannuccio
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