103 related articles for article (PubMed ID: 20580674)
1. Expression of four mutant fibrinogen gammaC domains in Pichia pastoris confirms them as causes of hypofibrinogenaemia.
Sheen CR; Dear A; Brennan SO
Protein Expr Purif; 2010 Oct; 73(2):184-8. PubMed ID: 20580674
[TBL] [Abstract][Full Text] [Related]
2. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion.
Vu D; de Moerloose P; Batorova A; Lazur J; Palumbo L; Neerman-Arbez M
J Med Genet; 2005 Sep; 42(9):e57. PubMed ID: 16141000
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.
Vu D; Di Sanza C; Caille D; de Moerloose P; Scheib H; Meda P; Neerman-Arbez M
Hum Mol Genet; 2005 Nov; 14(21):3271-80. PubMed ID: 16195396
[TBL] [Abstract][Full Text] [Related]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. The molecular mechanisms of congenital hypofibrinogenaemia.
Maghzal GJ; Brennan SO; Homer VM; George PM
Cell Mol Life Sci; 2004 Jun; 61(12):1427-38. PubMed ID: 15197468
[TBL] [Abstract][Full Text] [Related]
7. Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion.
Platè M; Asselta R; Spena S; Spreafico M; Fagoonee S; Peyvandi F; Tenchini ML; Duga S
Blood Cells Mol Dis; 2008; 41(3):292-7. PubMed ID: 18676163
[TBL] [Abstract][Full Text] [Related]
8. Fibrinogen Nottingham II: a novel Bbeta Arg264gly substitution causing hypofibrinogenaemia.
Hill MB; Brennan SO; Dear A; Strong J; Nejim T; Dolan G
Thromb Haemost; 2006 Sep; 96(3):378-80. PubMed ID: 16953282
[No Abstract] [Full Text] [Related]
9. Novel fibrinogen gamma375 Arg-->Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia.
Brennan SO; Maghzal G; Shneider BL; Gordon R; Magid MS; George PM
Hepatology; 2002 Sep; 36(3):652-8. PubMed ID: 12198657
[TBL] [Abstract][Full Text] [Related]
10. Hypofibrinogenaemia associated with common gamma82Ala-->Gly mutation is not mediated by altered mRNA splicing.
Brennan SO; Homer VM; Davis RL; Meyer M; George PM
Thromb Haemost; 2006 Oct; 96(4):535-7. PubMed ID: 17003934
[No Abstract] [Full Text] [Related]
11. A novel fibrinogen Bbeta chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia.
Xu X; Wu J; Zhai Z; Zhou R; Wang X; Wang H; Ding K; Sun Z; Ni H
Thromb Haemost; 2006 Jun; 95(6):931-5. PubMed ID: 16732370
[TBL] [Abstract][Full Text] [Related]
12. Mutant fibrinogen cleared from the endoplasmic reticulum via endoplasmic reticulum-associated protein degradation and autophagy: an explanation for liver disease.
Kruse KB; Dear A; Kaltenbrun ER; Crum BE; George PM; Brennan SO; McCracken AA
Am J Pathol; 2006 Apr; 168(4):1299-308; quiz 1404-5. PubMed ID: 16565503
[TBL] [Abstract][Full Text] [Related]
13. Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia.
Casini A; Vilar R; Beauverd Y; Aslan D; Devreese K; Mondelaers V; Alberio L; Gubert C; de Moerloose P; Neerman-Arbez M
Haemophilia; 2017 Jul; 23(4):583-589. PubMed ID: 28306188
[TBL] [Abstract][Full Text] [Related]
14. Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants.
Vu D; Di Sanza C; Neerman-Arbez M
Haematologica; 2008 Feb; 93(2):224-31. PubMed ID: 18223281
[TBL] [Abstract][Full Text] [Related]
15. Fibrinogen Montreal: a novel missense mutation (Aa D496N) associated with hypofibrinogenaemia.
Sheen CR; Brennan SO; Jabado N; George PM
Thromb Haemost; 2006 Aug; 96(2):231-2. PubMed ID: 16894470
[No Abstract] [Full Text] [Related]
16. Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.
Asselta R; Platè M; Robusto M; Borhany M; Guella I; Soldà G; Afrasiabi A; Menegatti M; Shamsi T; Peyvandi F; Duga S
Thromb Haemost; 2015 Mar; 113(3):567-76. PubMed ID: 25427968
[TBL] [Abstract][Full Text] [Related]
17. Novel fibrinogen Bbeta gene mutation causing hypofibrinogenaemia.
Homer VM; Brennan SO; George PM
Thromb Haemost; 2002 Dec; 88(6):1066-7. PubMed ID: 12529761
[No Abstract] [Full Text] [Related]
18. Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.
Asselta R; Spena S; Duga S; Peyvandi F; Malcovati M; Mannucci PM; Tenchini ML
Haematologica; 2002 Aug; 87(8):855-9. PubMed ID: 12161363
[TBL] [Abstract][Full Text] [Related]
19. Sequence gamma 377-395(P2), but not gamma 190-202(P1), is the binding site for the alpha MI-domain of integrin alpha M beta 2 in the gamma C-domain of fibrinogen.
Ugarova TP; Lishko VK; Podolnikova NP; Okumura N; Merkulov SM; Yakubenko VP; Yee VC; Lord ST; Haas TA
Biochemistry; 2003 Aug; 42(31):9365-73. PubMed ID: 12899623
[TBL] [Abstract][Full Text] [Related]
20. Hypofibrinogenaemia associated with a novel heterozygous gamma289 Ala -->Val substitution (fibrinogen Dorfen).
Dear A; Brennan SO; Dempfle CE; Kirschstein W; George PM
Thromb Haemost; 2004 Dec; 92(6):1291-5. PubMed ID: 15583736
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
