Russell和Roth描述的是GPIb α链位置239上的甲硫氨酸残基被缬氨酸残基(M239V)取代的方法[Russell,S.D.& BRoth, G.J.(1993)Pseudo-von Willebrand Disease:A mutation in the platelet glycoprotein Ib a geneassociated with a hyperactive surf ace receptor.Blood 81 (7),1787-1791]。这种变异也会引发PT-VWD...
Russell和Roth描述的是GPIbα链位置239上的甲硫氨酸残基被缬氨酸残基(M239V)取代的方法[Russell,S.D.& BRoth,G.J.(1993)Pseudo-von Willebrand Disease:A mutation in the platelet glycoprotein Ibαgene associated with a hyperactivesurface receptor.Blood 81(7),1787-1791]。这种变异也会引发PT-VWD。
ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity. Blood. 2003;101: 4449-4451. Schneppenheim R, Budde U, Oyen F, et al. von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. Blood. ...
Gene Recombinant protein 1. Introduction La prise en charge du purpura thrombotique thrombocytopénique congénital (PTTc) est amenée àêtre redéfinie avec la mise à disposition d’une forme recombinante humaine de la protéase ADAMTS13 (rhADAMTS13,a disintegrin and metalloprotease with thrombospo...
Test results for antibodies against both proteins were positive. While plasma exchange therapy was continued, rituximab was given once weekly for four consecutive weeks. After the last dose, thrombocytes and activities of ADAMTS-13 and factor H increased into the normal range. Our patient ...
There was no statistical difference (P = 0.32) between normal Chinese donors and family members carrying no mutation in the ADAMTS‐13 gene. ADAMTS‐13 antigen levels in TTP patients We tested ADAMTS‐13 titers in 11 patients suffering from acquired TTP. Discrimination between acquired and ...
传统的瑞斯托霉素辅因子检测的不足之处在于实施过程很难自动化,因为在测量 过程中需要不断地充分搅拌检测标本(Testansatz)中的血小板。此外,这种检测的精确度 相对较低,对相关标准所规定的处于0%至20%范围内的低VWF活性的测定无法充分发挥 作用。 近来有人研发出了基于GPIba的VWF-ELISA检测,这种检测所使用的重组GPI...
Finally, it is important to note that C57BL/6J has become the standard "control" inbred mouse strain for gene targeting experiments, particularly in cardiovascular research (34). Our findings suggest that an endogenous mutation in the C57BL/6J Adamts13 allele, along with balancing mutations at ...
ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity. Blood, 101 (2003), pp. 4449-4451 View PDFView articleView in ScopusGoogle Scholar 18 Antoine G, Zimmermann K, Plaimauer B, et al. ADAMTS13 gene defects in two...
ADAMTS13 deficiency has been related to gene mutations in the hereditary form of the disease and to anti-ADAMTS13 autoantibodies in the autoimmune form.2 Although immunomodulatory agents have been empirically used in TTP for many years, the direct pathogenic role of anti-ADAMTS13 antibodies was dem...