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Journal Abstract Search

267 related items for PubMed ID: 33105716

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  • 2. Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.
    Asselta R, Robusto M, Braidotti P, Peyvandi F, Nastasio S, D'Antiga L, Perisic VN, Maggiore G, Caccia S, Duga S.
    J Thromb Haemost; 2015 Aug; 13(8):1459-67. PubMed ID: 26039544
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  • 4. Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis.
    Rubbia-Brandt L, Neerman-Arbez M, Rougemont AL, Malé PJ, Spahr L.
    Am J Surg Pathol; 2006 Jul; 30(7):906-11. PubMed ID: 16819336
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  • 5. A novel fibrinogen mutation (γ Thr277Arg) causes hereditary hypofibrinogenemia in a Chinese family.
    Zhu L, Wang M, Xie H, Jin Y, Yang L, Xu P.
    Blood Coagul Fibrinolysis; 2013 Sep; 24(6):642-4. PubMed ID: 23492915
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  • 7. Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the ERSD-associated gamma-G284R mutant.
    Duga S, Braidotti P, Asselta R, Maggioni M, Santagostino E, Pellegrini C, Coggi G, Malcovati M, Tenchini ML.
    J Thromb Haemost; 2005 Apr; 3(4):724-32. PubMed ID: 15842357
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  • 8. The molecular basis of quantitative fibrinogen disorders.
    Asselta R, Duga S, Tenchini ML.
    J Thromb Haemost; 2006 Oct; 4(10):2115-29. PubMed ID: 16999847
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  • 12. Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen Aα and Bβ chain mutations in two Tunisian families.
    Amri Y, Toumi Nel H, Hadj Fredj S, de Moerloose P.
    Thromb Res; 2016 Jul; 143():11-6. PubMed ID: 27164460
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  • 13. Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations.
    Wypasek E, Klukowska A, Zdziarska J, Zawilska K, Treliński J, Iwaniec T, Mital A, Pietrys D, Sydor W, Neerman-Arbez M, Undas A.
    Thromb Res; 2019 Oct; 182():133-140. PubMed ID: 31479941
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  • 15. Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia.
    Brennan SO, Davis RL, Conard K, Savo A, Furuya KN.
    Liver Int; 2010 Nov; 30(10):1541-7. PubMed ID: 20666993
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  • 16. Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
    Neerman-Arbez M, de Moerloose P.
    Hum Mutat; 2007 Jun; 28(6):540-53. PubMed ID: 17295221
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  • 17. Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.
    Padilla-Godínez FJ, Ramos-Acevedo R, Martínez-Becerril HA, Bernal-Conde LD, Garrido-Figueroa JF, Hiriart M, Hernández-López A, Argüero-Sánchez R, Callea F, Guerra-Crespo M.
    Int J Mol Sci; 2021 Nov 18; 22(22):. PubMed ID: 34830348
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