siRNA down-regulation of FGA mRNA in HepG2 cells demonstrated that heterozygous abnormality of the Aα-chain gene does not affect the plasma fibrinogen level（siRNAを用いたHepG2細胞のFGA mRNA発現抑制実験は，フィブリノゲンAα鎖遺伝子のヘテロ型異常では血漿フィブリノゲン濃度を低下させないことを明らかにした） [PDF]
, 2014 信州大学(Shinshu university)博士（保健学）雑誌に発表。THROMBOSIS RESEARCH. 131(4):342-348 (2013); doi:10.1016/j.thromres.2013.01.010.Thesis竹澤 由夏. siRNA down-regulation of FGA mRNA in HepG2 cells demonstrated that heterozygous abnormality of the Aα-chain gene does not ...
竹澤, 由夏
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A C-terminal amino acid substitution in the γ-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia [PDF]
, 2010 journal ...
Fujihara Noriko +6 more
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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 [PDF]
, 2012 We identified two afibrinogenemic girls in two Japanese families and performed molecular analysis to clarify the mechanisms of fibrinogen defects. Genetic analyses were performed by PCR amplification of the fibrinogen gene and DNA sequence analysis.
Fujiwara, Mitsuhiro +7 more
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New insights into the expression and role of platelet FXIII-A [PDF]
, 2009 25 p.-6 fig.Background: The A subunit of factor XIII (FXIII-A) functions as an intracellular transglutaminase (TG) in the megakaryocyte/platelet lineage, where it probably participates in the cytoskeletal remodeling associated with cell activation ...
Conde, Isabel +4 more
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Acta Médica Portuguesa, 1998 The authors present a case of congenital afibrinogenemia. A review of the literature is made, and some aspects of this rare inherited coagulation disorder are suggested and commented on.
P Pastilha +7 more
doaj +1 more source
Management of congenital dysfibrinogenemia in pregnancy: A challenging patient case
Research and Practice in Thrombosis and Haemostasis, 2021 Afibrinogenemia and congenital dysfibrinogenemia (CD) are rare conditions with limited information available for appropriate management. Previous case reports have demonstrated the safe and efficacious use of fibrinogen replacement therapy (FRT) as a ...
Megan Langer +5 more
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Congenital structural and functional fibrinogen disorders : a primer for internists [PDF]
, 2019 Congenital qualitative and quantitative fibrinogen disorders represent heterogeneous rare abnormalities caused by mutations in one of the 3 genes encoding individual fibrinogen polypeptide chains, located on chromosome 4q28.
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Glanzmann thrombasthenia [PDF]
, 2006 Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation.
Alan T Nurden
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A Case of Congenital Afibrinogenemia [PDF]
Blood, 1957 Abstract 1. A case of congenital afibrinogenemia of a Sinhalese boy of 22 years is reported. 2. The main features of the reported cases are reviewed. 3. The principal features of this case are total absence of fibrinogen in the blood, complete non-coagulability of blood, history of several episodes of ...
P B, FERNANDO, B D, DHARMASENA
openaire +2 more sources
The H-ATOMIC Criteria for the Etiologic Classification of Patients with Intracerebral Hemorrhage [PDF]
, 2016 Background and Purpose There are no generally accepted criteria for the etiologic classification of intracerebral hemorrhage (ICH). For this reason, we have developed a set of etiologic criteria and have applied them to a large number of patients to ...
Arias-Rivas, Susana +11 more
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