Rivaroxaban (RIV) is a direct oral anticoagulant (DOAC) targeting activated coagulation factor X (FXa). An earlier study reported the F174A mutant of FXa resistant to a RIV‐like inhibitor, Apixaban. In current study, the detailed molecular mechanism of the resistance has been explored by molecular dynamics simulations on the impaired interactions between RIV and FXa in the damaged S4 pocket of F174A...
Background Inherited Factor XIII deficiency (FXIIID) is one of the most severe and under-diagnosed rare bleeding disorders. Only 5 large deletions involving one or more exons in F13A1 have been reported, and lacking of multiplex ligation-dependent probe amplification (MLPA) assay might underestimate the copy number variations (CNVs) in F13A1 and F13B. We had characterized the clinical presentation...
Only two large duplications of F9 causing haemophilia B (HB) have been reported.
To analyse the pathogenic mechanisms of large F9 duplications.
We have identified two large duplications of F9 (dup ex 1‐6 and dup ex 4‐6) associated with mild and severe HB in probands A and B, respectively. Here, we localized the breakpoints of the two duplications using long‐range PCR...
Sporadic haemophilia B (HB) without obvious familial history poses challenges for genetic diagnosis and counselling.
To identify the F9 variants in sporadic HB patients and probe the origin of these de novo mutations.
A total of 294 unrelated HB pedigrees sought genetic diagnosis were analysed in this single‐centre study. The F9 gene was analysed by direct sequencing,...
Background The contribution of moderate coagulation factor XII (FXII) deficiency to development of thromboembolism is still undetermined. We have tried to show the relevance of FXII deficiency to incidences of venous thrombosis by exploring the prevalence of F12 gene mutations in Chinese patients with thrombotic disorders. Methods One hundred and six patients with venous thromboembolism (VTE) and...
The amino acid substitutions caused by ABO gene mutations are usually predicted to impact glycosyltransferase's function or its biosynthesis. Here we report an ABO exonic missense mutation that affects B‐antigen expression by decreasing the mRNA level of the ABO gene rather than the amino acid change.
STUDY DESIGN AND METHODS
Serologic studies including plasma total GTB transfer capacity...
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