fibrinogen Aalpha

04/01/2009 - "The predominant cause of hereditary renal amyloidosis is a mutation of the fibrinogen Aalpha chain (AFib), the most common being the E526V mutation. "
07/01/2008 - "Three German fibrinogen Aalpha-chain amyloidosis patients with the p.Glu526Val mutation."
03/01/2006 - "Four mutations in the fibrinogen Aalpha-chain that are able to induce amyloidosis have been identified so far, the most common being the Glu526Val mutation. "
11/01/2005 - "This is the first description of hereditary fibrinogen Aalpha chain amyloidosis in an Asian individual, and the distinctive renal histology offered a strong clue to the diagnosis. "
12/15/1997 - "A French kindred with autosomal dominant hereditary renal amyloidosis was found to have a novel mutation in the fibrinogen Aalpha-chain gene. "

03/01/2010 - "Congenital afibrinogenemia is a rare coagulation disorder attributed to over forty mutations found either in homozygosity or in compound heterozygosity, the majority localized in FGA encoding the fibrinogen Aalpha-chain. "
03/01/2005 - "To examine the precise basis for the fibrinogen deficiency, mixtures of any two vectors, the fibrinogen Aalpha-, Bbeta-, gamma- (153Cys) or gammam-(153Ala) chain were transfected into Chinese hamster ovary cells (CHO-Aalpha/gamma, -Aalpha/gammam, -Bbeta/gamma, -Bbeta/gammam). "
10/01/2002 - "Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene."
07/01/2000 - "Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia."
11/01/2004 - "Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene."

11/01/2005 - "Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aalpha chain gene."
03/01/2006 - "Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen Aalpha-chain gene."
01/01/2006 - "Nonneuropathic amyloidoses (Ostertag type amyloidosis) include those due to abnormalities in lysozyme, fibrinogen Aalpha-chain, and apolipoprotein A-I and A-II. The role of lysozyme in amyloid-related human disorders was first described in 1993; to date, there have been only 9 publications describing this disorder, which is a nonneuropathic form of hereditary amyloidosis. "

07/01/2006 - "The fibrinogen Aalpha R16C mutation is a common cause of dysfibrinogenaemia and has been previously associated with both bleeding and thrombosis. "
04/06/2010 - "The formation of a blood clot involves the interplay of thrombin, fibrinogen, and Factor XIII. Thrombin cleaves fibrinopeptides A and B from the N-termini of the fibrinogen Aalpha and Bbeta chains. "

11/01/2005 - "The histologic appearance was identical to that seen in patients with hereditary fibrinogen Aalpha chain Glu526Val amyloidosis, and the amyloid deposits stained specifically with antibodies to fibrinogen. "