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Fibrinogen Longmont. A heterozygous abnormal fibrinogen with B beta Arg-166 to Cys substitution associated with defective fibrin polymerization

Autor: K C, Lounes, J B, Lefkowitz, A I, Coates, R R, Hantgan, A, Henschen-Edman, S T, Lord

Publikováno v: Annals of the New York Academy of Sciences. 936

B beta Arg166 to Cys substitution was identified in an abnormal fibrinogen named fibrinogen Longmont. The proband, a young woman, and her mother were heterozygous; both experienced episodes of severe hemorrhage at childbirth. The neo-Cys residues wer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a73e0a87e921a1351fa97590c5a97895
https://pubmed.ncbi.nlm.nih.gov/11460470

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Fibrinogen Alès: a homozygous case of dysfibrinogenemia (gamma-Asp(330)--Val) characterized by a defective fibrin polymerization site 'a'

Autor: K C, Lounes, C, Soria, S S, Mirshahi, P, Desvignes, M, Mirshahi, O, Bertrand, P, Bonnet, J, Koopman, J, Soria

Publikováno v: Blood. 96(10)

Congenital homozygous dysfibrinogenemia was diagnosed in a man with a history of 2 thrombotic strokes before age 30. His hemostatic profile was characterized by a dramatically prolonged plasma thrombin clotting time, and no clotting was observed with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2778e34b83350d431818624a82e21ac2
https://pubmed.ncbi.nlm.nih.gov/11071644

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Recombinant fibrinogen Vlissingen/Frankfurt IV. The deletion of residues 319 and 320 from the gamma chain of firbinogen alters calcium binding, fibrin polymerization, cross-linking, and platelet aggregation

Autor: K A, Hogan, O V, Gorkun, K C, Lounes, A I, Coates, J W, Weisel, R R, Hantgan, S T, Lord

Publikováno v: The Journal of biological chemistry. 275(23)

We synthesized a variant, recombinant fibrinogen modeled after the heterozygous dysfibrinogen Vlissingen/Frankfurt IV, a deletion of two residues, gammaAsn-319 and gammaAsp-320, located within the high affinity calcium-binding pocket. Turbidity studi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6baa23e2029a956fdc887c9b1b61857f
https://pubmed.ncbi.nlm.nih.gov/10748039

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Fibrinogen Bastia (gamma 318 Asp--Tyr) a novel abnormal fibrinogen characterized by defective fibrin polymerization

Autor: K C, Lounes, C, Soria, A, Valognes, M F, Turchini, J, Soria, J, Koopman

Publikováno v: Thrombosis and haemostasis. 82(6)

A new congenital dysfibrinogen, Fibrinogen Bastia, was discovered in a 20-year-old woman with no clinical symptoms. The plasma thrombin-clotting time was severely prolonged. The functional plasma fibrinogen concentration was low (0.2 mg/ml), whereas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::debdcaeacb16c4d86f7ff90fe0168218
https://pubmed.ncbi.nlm.nih.gov/10613648

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