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    F13A1 coagulation factor XIII A chain [ Homo sapiens (human) ]

    Gene ID: 2162, updated on 28-Mar-2019

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    this study characterized a novel mutation in AP-FXIII representing only the fourth case of the rare FXIII-A type II deficiency

    Proline 36 of the Factor XIII Activation Peptide Plays a Crucial Role in Substrate Recognition and Zymogen Activation.
    Li B, Billur R, Maurer MC, Kohler HP, Raddatz Müller P, Alberio L, Schroeder V.

    Overall, genetically-determined FXIIIA levels have a significant long-term prognostic role, suggesting that a pharmacogenetics approach might help to select those AMI patients at risk of poor prognosis in the need of dedicated treatments.

    <i>F13A1</i> Gene Variant (V34L) and Residual Circulating FXIIIA Levels Predict Short- and Long-Term Mortality in Acute Myocardial Infarction after Coronary Angioplasty.
    Ansani L, Marchesini J, Pestelli G, Luisi GA, Scillitani G, Longo G, Milani D, Serino ML, Tisato V, Gemmati D., Free PMC Article

    Inflammatory monocytes highly express Factor XIIIA, which promotes fibrin cross-linking to create a scaffold for lung squamous carcinomas cell invasion and metastases.

    Factor XIIIA-expressing inflammatory monocytes promote lung squamous cancer through fibrin cross-linking.
    Porrello A, Leslie PL, Harrison EB, Gorentla BK, Kattula S, Ghosh SK, Azam SH, Holtzhausen A, Chao YL, Hayward MC, Waugh TA, Bae S, Godfrey V, Randell SH, Oderup C, Makowski L, Weiss J, Wilkerson MD, Hayes DN, Earp HS, Baldwin AS, Wolberg AS, Pecot CV., Free PMC Article

    Effect of factor XIII levels and polymorphisms on the risk of myocardial infarction in young patients

    Effect of factor XIII levels and polymorphisms on the risk of myocardial infarction in young patients.
    Balogh L, Katona É, Mezei ZA, Kállai J, Gindele R, Édes I, Muszbek L, Papp Z, Bereczky Z.

    Polymorphisms of F2, PROC, PROZ, and F13A1 Genes are Associated With Recurrent Spontaneous Abortion in Chinese Han Women.

    Polymorphisms of F2, PROC, PROZ, and F13A1 Genes are Associated With Recurrent Spontaneous Abortion in Chinese Han Women.
    Xu Z, Zhang Y, Liu W, Liu Y, Su Y, Xing Q, He X, Wei Z, Cao Y, Xiang H.

    Coagulation factor FXIII-A (FXIIIA) was found to express specifically in the fetal beta islets but not in the alpha/delta islets.

    Human Fetal β Islets Express Coagulation Factor XIII-A and Proteases Suggesting Amphicrine Regulation to Facilitate Islet Fusion.
    Lee I.

    Factor XIIIa (AC-1A1) is a sensitive and specific nuclear marker for sebaceous differentiation...which can be utilized to aid in the diagnosis of sebaceous neoplasms.

    Evaluation and comparison of staining patterns of factor XIIIa (AC-1A1), adipophilin and GATA3 in sebaceous neoplasia.
    Tjarks BJ, Pownell BR, Evans C, Thompson PA, Kerkvliet AM, Koch MRD, Jassim AD.

    Our meta-analysis supports an association between F13A1 Val34Leu and recurrent pregnancy loss.

    Association of the F13A1 Val34Leu polymorphism and recurrent pregnancy loss: A meta-analysis.
    Jung JH, Kim JH, Song GG, Choi SJ.

    A brief history of some key events in the conversion of fibrinogen to fibrin has been reviewed. (Review)

    The conversion of fibrinogen to fibrin: A brief history of some key events.
    Doolittle RF.

    The results of this study suggest that these biomarker F13A1 can serve as a potential non-invasive early diagnosis platform reflecting PiB-PET imaging for Mild Cognitive Impairment and Alzheimer's Disease.

    PiB-PET Imaging-Based Serum Proteome Profiles Predict Mild Cognitive Impairment and Alzheimer's Disease.
    Kang S, Jeong H, Baek JH, Lee SJ, Han SH, Cho HJ, Kim H, Hong HS, Kim YH, Yi EC, Seo SW, Na DL, Hwang D, Mook-Jung I.

    F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2

    Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A<sub>2</sub>.
    Ivaškevičius V, Biswas A, Garly ML, Oldenburg J.

    Results show that the missense mutations-causing mild FXIII de fi ciency influence different aspects of FXIII function and can be functionally categorized on the basis of their expression phenotype.

    Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action.
    Thomas A, Biswas A, Dodt J, Philippou H, Hethershaw E, Ensikat HJ, Ivaskevicius V, Oldenburg J.

    These findings provide insight into assembly of the fibrinogen/FXIII-A2B2 complex in both physiologic and therapeutic situations.

    The interaction between fibrinogen and zymogen FXIII-A2B2 is mediated by fibrinogen residues γ390-396 and the FXIII-B subunits.
    Byrnes JR, Wilson C, Boutelle AM, Brandner CB, Flick MJ, Philippou H, Wolberg AS., Free PMC Article

    FXIIIa exhibits a preference for Q237 in crosslinking reactions within fibrinogen alphaC (233-425) followed by Q328 and Q366.

    Ranking reactive glutamines in the fibrinogen αC region that are targeted by blood coagulant factor XIII.
    Mouapi KN, Bell JD, Smith KA, Ariëns RA, Philippou H, Maurer MC., Free PMC Article

    factor XIII Val34Leu polymorphism is associated with coronary artery diseases risk, especially myocardial infarction. Age and sex did not affect the relationship between factor XIII Val34Leu polymorphism and diseases risk (Meta-Analysis)

    Association of factor XIII Val34Leu polymorphism and coronary artery disease: A meta-analysis.
    Jung JH, Song GG, Kim JH, Seo YH, Choi SJ.

    Mounting evidence now suggests that platelet FXIII-A modulates hemostasis by several different mechanisms. This condensed review discusses recent advances in the understanding of the novel intracellular and extracellular functions of platelet FXIII-A. [review]

    Novel aspects of platelet factor XIII function.
    Mitchell JL, Mutch NJ.

    It is a unique case showing the combination of a highly aggressive angiosarcoma and presence of inherited FXIII deficiency. It is also a rare example demonstrating the benefit of FXIII genotyping besides the expected acquired FXIII deficiency possibly due to neoplasm induced increased consumption by elevated crosslinking of fibrin fibers.

    Neoplasm-induced bleeding in inherited, heterozygous FXIII-A deficiency.
    Ivaškevičius V, Goldmann G, Biswas A, Westhofen P, Thomas A, Marquardt N, Horneff S, Klein C, Rühl H, Pötzsch B, Oldenburg J.

    The Val34Leu polymorphism of FXIII was not found in Korean people, and compared with Caucasians, a noticeably low incidence of deep vein thrombosis was shown.

    Prevalence of the Factor XIII Val34Leu Polymorphism in Korean Patients with Deep Vein Thrombosis.
    Kim SD, Hwang JK, Park SC, Kim JI, Won YS, Yun SS, Moon IS, Park JS.

    Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients has been uncovered.

    Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations.
    Shanbhag S, Ghosh K, Shetty S.

    Our meta-analysis suggests that there is no evidence for strong association between FXIII Val34Leu polymorphisms and intracerebral hemorrhage--{review}

    Blood coagulation factor XIII-A subunit Val34Leu polymorphisms and intracerebral hemorrhage risk: A meta-analysis of case-control studies.
    Ma J, Li H, You C, Liu Y, Ma L, Huang S.

    Deletion of 11 or more N-terminal amino acids disrupts intersubunit interactions, which may prevent FXIII-A2 homodimer formation. AP-FXIII plays an important role in the stability of the FXIII-A2 dimer.

    The activation peptide of coagulation factor XIII is vital for its expression and stability.
    Handrkova H, Schroeder V, Kohler HP.

    Mutations in the activation peptide of full-length recombinant FXIII regulate activation rates by thrombin, and V34L influences in vivo thrombus formation by increased cross-linking of the clot.

    Factor XIII A-Subunit V34L Variant Affects Thrombus Cross-Linking in a Murine Model of Thrombosis.
    Duval C, Ali M, Chaudhry WW, Ridger VC, Ariëns RA, Philippou H.

    Different FXIII-A dynamics and levels could be utilised as early prognostic indicators during acute MI, revealing the individual potential to heal and suggesting tailored treatments to avoid heart failure or its extreme consequence.

    Factor XIII-A dynamics in acute myocardial infarction: a novel prognostic biomarker?
    Gemmati D, Zeri G, Orioli E, Mari R, Moratelli S, Vigliano M, Marchesini J, Grossi ME, Pecoraro A, Cuneo A, Ferrari R, Pinotti M, Serino ML, Ansani L.

    FXIII Val34Leu polymorphism has a protective effect against recurrent spontaneous abortion.

    Genetic association between FXIII and β-fibrinogen genes and women with recurrent spontaneous abortion: a meta- analysis.
    Li J, Wu H, Chen Y, Wu H, Xu H, Li L., Free PMC Article

    Report immunochromatographic test for detection of anti-factor XIII A subunit antibodies that can diagnose 90 % of cases with autoimmune haemorrhaphilia XIII.

    Rapid immunochromatographic test for detection of anti-factor XIII A subunit antibodies can diagnose 90 % of cases with autoimmune haemorrhaphilia XIII/13.
    Osaki T, Sugiyama D, Magari Y, Souri M, Ichinose A.

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