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Molecular analysis may be the best method to identify antithrombin deficiency. Up to 80% of patients with antithrombin deficiency have SERPINC1 gene defects, mostly (90% of the 315 gene defects described so far) point mutations or small deletions or insertions affecting the 7 exons or flanking regions. [review]
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Laboratory tests and direct sequencing of PROC and SERPINC1 were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in SERPINC1 and a short deletion variant c.572_574delAGA in PROC.
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Thirty-one members of a single family were included. Clinical data was collected regarding thrombotic history. The mutation was identified by direct sequencing of the SERPINC1 gene. HEK293 cells were transfected with wild type and mutant SERPINC1 plasmids.
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the first report of regulatory region polymorphisms in SERPINC1 gene in Indian population
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this study shows that risk for thrombosis is associated with the different SERPINC1 genotypes
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Report high levels of latent antithrombin in plasma from patients with antithrombin deficiency caused by mutations affecting the stability of the native conformation.
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Study identified one new small deletion within AT, which results in the loss of four amino acids (INEL) and is located at strand 3 of beta-sheet A, a region highly conserved in SERPINC1. This mutation leads to type I AT deficiency by promoting the intracellular retention of AT, which induces ER stress.
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It was our aim to identify mutations in SERPINC1 causing transient antithrombin deficiency. SERPINC1 was sequenced in 214 cases with a positive test for antithrombin deficiency, including 67 with no deficiency in the sample delivered to our laboratory. The p.Val30Glu mutation (Antithrombin Dublin) was identified in five out of these 67 cases, as well as in three out of 127 cases with other SERPINC1 mutations.
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different types of SERPINC1 mutations may play different roles in the development of VTE
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aberrant N-glycosylation causing a recessive or transient antithrombin deficiency is a new form of thrombophilia that does not have a SERPINC1 gene defect
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evaluation of serum proteins reveals that SERPINA1, SERPINA3 and SERPINC1 could be useful to discriminate healthy from colorectal carcinoma patients with a high sensitivity and specificity
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The results this study reveal several novel mutations to the already growing list of SERPINC1 mutations, thereby adding to our knowledge of the molecular background of antithrombin deficiency.
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Data indicate that all patients suffered from homozygous antithrombin (AT) deficiency caused by the mutation p.Leu131Phe in the AT gene (SERPINC1).
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Studies indicate that antithrombin III (ATIII) and its gene SerpinC1 may be related to many diseases, including hypertension and kidney diseases.
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The odds ratio of developing idiopathic fatal pulmonary embolism as a variant carrier for SERPINC1 is 144.2 (95% CI, 26.3-779.4; P = 1.7 x 10- 7).
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Nine patients (1.8%), [5% in arterial thrombosis and 0.8% in venous thrombosis] showed a missense variant in exon 5 i.e. p.Pro305His (c.1033 C > A); none of these patients showed the presence of any other variations in the gene.
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In Hungary, the founder mutation, ATBp3, is the most common Antithrombin deficiency
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Our studies of ATIII in-cell folding reveal a surprising, biased order of disulfide bond formation, with early formation of the C-terminal disulfide, before formation of the N-terminal disulfides, critical for folding to the active, metastable state
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Describe antibody specifically targeting a unique conformational epitope on antithrombin III beta conformation that blocks anticoagulation.
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This is the first case of pregnancy related stroke, associated with type-II heparin binding site antithrombin deficiency (c. 391C > T, p.Leu131Phe), that has been reported so far. A genetic analysis of the AT gene (SERPINC1) was performed.
