198 related articles for article (PubMed ID: 25990487)
1. 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]
2. 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]
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. 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]
5. Fibrinogen storage disease and cirrhosis associated with hypobetalipoproteinemia owing to fibrinogen Aguadilla in a Turkish child.
Sari S; Yilmaz G; Gonul II; Dalgic B; Akyol G; Giovannoni I; Francalanci P; Callea F
Liver Int; 2015 Dec; 35(12):2501-5. PubMed ID: 26176881
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Autophagy-enhancing drug carbamazepine diminishes hepatocellular death in fibrinogen storage disease.
Puls F; Goldschmidt I; Bantel H; Agne C; Bröcker V; Dämmrich M; Lehmann U; Berrang J; Pfister ED; Kreipe HH; Baumann U
J Hepatol; 2013 Sep; 59(3):626-30. PubMed ID: 23707368
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. A novel fibrinogen gamma-chain mutation, p.Cys165Arg, causes disruption of the γ165Cys-Bβ227Cys disulfide bond and ultimately leads to hypofibrinogenemia.
Zhou W; Luo M; Yan J; Xiang L; Wei A; Deng X; Liao L; Cheng P; Deng D; Lin F
Thromb Res; 2018 Dec; 172():128-134. PubMed ID: 30412834
[TBL] [Abstract][Full Text] [Related]
11. Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen Aguadilla" is present in Arabs.
Al-Hussaini A; Altalhi A; El Hag I; AlHussaini H; Francalanci P; Giovannoni I; Callea F
Saudi J Gastroenterol; 2014; 20(4):255-61. PubMed ID: 25038212
[TBL] [Abstract][Full Text] [Related]
12. [Analysis of a pedigree affected with congenital hypofibrinogenemia due to heterozygous Ser313Ile mutation of fibrinogen γ chain gene].
Zhu L; Zhao M; Cheng X; Yu D; Li X; Xu F; Wang J; Wang M
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr; 35(2):179-183. PubMed ID: 29652987
[TBL] [Abstract][Full Text] [Related]
13. Hepatic fibrinogen storage disease and hypofibrinogenemia caused by fibrinogen Aguadilla mutation: a case report.
Gu L; Wang B; Liu L; Gan Q; Liu X; Chen L; Chen L
J Int Med Res; 2020 Jan; 48(1):300060519898033. PubMed ID: 31965886
[TBL] [Abstract][Full Text] [Related]
14. Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.
Francalanci P; Santorelli FM; Talini I; Boldrini R; Devito R; Camassei FD; Maggiore G; Callea F
J Pediatr; 2006 Mar; 148(3):396-8. PubMed ID: 16615976
[TBL] [Abstract][Full Text] [Related]
15. Unique de-novo mutation of fibrinogen gene in a Chinese girl with hypofibrinogenemia.
Wang Y; Zhu L; Hao X; Xie Y; Jin Y; Wang M
Blood Coagul Fibrinolysis; 2014 Oct; 25(7):780-2. PubMed ID: 24717425
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis of congenital fibrinogen disorders.
Lebreton A; Casini A
Ann Biol Clin (Paris); 2016 Aug; 74(4):405-12. PubMed ID: 27492693
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
