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001-es BibID:BIBFORM010444
Első szerző:Karimi, Mehran
Cím:Factor XIII Deficiency / Mehran Karimi, Zsuzsanna Bereczky, Nader Cohan, László Muszbek
Dátum:2009
ISSN:0094-6176 (Print)
Megjegyzések:Factor XIII (FXIII) is a tetrameric zymogen (FXIII-A (2)B (2)) that is converted into an active transglutaminase (FXIIIa) by thrombin and Ca (2+) in the terminal phase of the clotting cascade. By cross-linking fibrin chains and alpha (2) plasmin inhibitor to fibrin, FXIIIa mechanically stabilizes fibrin and protects it from fibrinolysis. Severe deficiency of the potentially active A subunit (FXIII-A) is a rare but severe hemorrhagic diathesis. Delayed umbilical stump bleeding is characteristic, and subcutaneous, intramuscular, and intracranial bleeding occurs with a relatively high frequency in nonsupplemented patients. In addition, impaired wound healing and spontaneous abortion in women are also features of FXIII deficiency. The extremely rare B subunit deficiency results in milder bleeding symptoms. FXIII concentrate is now available for on-demand treatment and primary prophylaxis. A quantitative FXIII activity assay is recommended as a screening test for the diagnosis of FXIII deficiency. For classification purposes, FXIII-A (2)B (2) antigen in the plasma is first determined, and if decreased, further measurement of the individual subunits is recommended in the plasma and FXIII-A in platelet lysate. Analytical aspects of FXIII activity and antigen assays are discussed in this article. There are no hot-spot mutations in the F13A1 and F13B genes, and the majority of causative mutations are missense/nonsense point mutations.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Ammonia
metabolism
genetics
analysis
therapeutic use
metabolism
Newborn
prevention
Megjelenés:Seminars in Thrombosis and Hemostasis. - 35 : 4 (2009), p. 426-438. -
További szerzők:Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos) Cohan, Nader Muszbek László (1942-) (haematológus, kutató orvos)
Internet cím:DOI
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2.

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
Internet cím:elektronikus változat
DOI
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