140 related articles for article (PubMed ID: 17883696)
1. Fibrinogen angers with a new deletion (gamma GVYYQ 346-350) causes hypofibrinogenemia with hepatic storage.
Dib N; Quelin F; Ternisien C; Hanss M; Michalak S; De Mazancourt P; Rousselet MC; Calès P
J Thromb Haemost; 2007 Oct; 5(10):1999-2005. PubMed ID: 17883696
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation.
Brennan SO; Wyatt J; Medicina D; Callea F; George PM
Am J Pathol; 2000 Jul; 157(1):189-96. PubMed ID: 10880389
[TBL] [Abstract][Full Text] [Related]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage.
Callea F; Giovannoni I; Sari S; Guldal E; Dalgic B; Akyol G; Sogo T; Al-Hussaini A; Maggiore G; Bartuli A; Boldrini R; Francalanci P; Bellacchio E
Int J Mol Sci; 2017 Dec; 18(12):. PubMed ID: 29244742
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. [Clinicopathological features of hepatic fibrinogen storage disease in children].
Fang Y; Wang YZ; Chen L; Yin JS; Wang X; Wei SM; Li XM; Wu X
Zhonghua Bing Li Xue Za Zhi; 2022 Apr; 51(4):326-331. PubMed ID: 35359044
[No Abstract] [Full Text] [Related]
10. 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
[TBL] [Abstract][Full Text] [Related]
11. Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature.
Casini A; Sokollik C; Lukowski SW; Lurz E; Rieubland C; de Moerloose P; Neerman-Arbez M
Haemophilia; 2015 Nov; 21(6):820-7. PubMed ID: 25990487
[TBL] [Abstract][Full Text] [Related]
12. Hereditary Hypofibrinogenemia with Hepatic Storage.
Asselta R; Paraboschi EM; Duga S
Int J Mol Sci; 2020 Oct; 21(21):. PubMed ID: 33105716
[TBL] [Abstract][Full Text] [Related]
13. Hepatic Fibrinogen Storage Disease in a Patient with Hypofibrinogenemia: Report of a Case with a Missense Mutation of the FGA Gene.
Lee MJ; Venick R; Bhuta S; Li X; Wang HL
Semin Liver Dis; 2015 Nov; 35(4):439-43. PubMed ID: 26676819
[TBL] [Abstract][Full Text] [Related]
14. Rethinking fibrinogen storage disease of the liver: ground glass and globular inclusions do not represent a congenital metabolic disorder but acquired collective retention of proteins.
Zen Y; Nishigami T
Hum Pathol; 2020 Jun; 100():1-9. PubMed ID: 32330484
[TBL] [Abstract][Full Text] [Related]
15. Fibrinogen Mannheim II: a novel gamma307 His-->Tyr substitution in the gammaD domain causes hypofibrinogenemia.
Dear A; Dempfle CE; Brennan SO; Kirschstein W; George PM
J Thromb Haemost; 2004 Dec; 2(12):2194-9. PubMed ID: 15613026
[TBL] [Abstract][Full Text] [Related]
16. γ375W fibrinogen-synthesizing CHO cells indicate the accumulation of variant fibrinogen within endoplasmic reticulum.
Kobayashi T; Arai S; Ogiwara N; Takezawa Y; Nanya M; Terasawa F; Okumura N
Thromb Res; 2014 Jan; 133(1):101-7. PubMed ID: 24210681
[TBL] [Abstract][Full Text] [Related]
17. Molecular analysis of afibrinogenemic mutations caused by a homozygous FGA1238 bp deletion, and a compound heterozygous FGA1238 bp deletion and novel FGA c.54+3A>C substitution.
Takezawa Y; Terasawa F; Matsuda K; Sugano M; Tanaka A; Fujiwara M; Kainuma K; Okumura N
Int J Hematol; 2012 Jul; 96(1):39-46. PubMed ID: 22639050
[TBL] [Abstract][Full Text] [Related]
18. Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A.
Mukai S; Nagata K; Ikeda M; Arai S; Sugano M; Honda T; Okumura N
Thromb Res; 2016 Dec; 148():111-117. PubMed ID: 27837696
[TBL] [Abstract][Full Text] [Related]
19. Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations.
Castaman G; Rimoldi V; Giacomelli SH; Duga S
Thromb Res; 2015 Jul; 136(1):144-7. PubMed ID: 25981141
[TBL] [Abstract][Full Text] [Related]
20. A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing.
Margaglione M; Santacroce R; Colaizzo D; Seripa D; Vecchione G; Lupone MR; De Lucia D; Fortina P; Grandone E; Perricone C; Di Minno G
Blood; 2000 Oct; 96(7):2501-5. PubMed ID: 11001903
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
