Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A series of 10 Polish patients with thromboembolic events and antithrombin deficiency: two new c.1154-1 G>C and c.1219-534 A>G SERPINC1 gene splicing mutations.
|
31157679 |
2019 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular basis of SERPINC1 mutations in Japanese patients with antithrombin deficiency.
|
31030036 |
2019 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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.
|
28861852 |
2018 |
Antithrombin III Deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
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.
|
30005274 |
2018 |
Antithrombin III Deficiency
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The level of antithrombin III was often decreased in patients with preeclampsia - (32.4%), then in the other patients - (17.2%) (P=0.04), but no patient was diagnosed with antithrombin III deficiency (diagnosis: level<60%).
|
28792912 |
2018 |
Antithrombin III Deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
SERPINC1 gene mutations in antithrombin deficiency.
|
28317092 |
2017 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited quantitative (type I) or qualitative (type II) antithrombin deficiency (ATD) due to mutations in the SERPINC1 gene is a well-known risk factor for venous thromboembolism.
|
28300866 |
2017 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The analysis of latent antithrombin in 141 unrelated patients with antithrombin deficiency carrying 89 different SERPINC1 mutations identified four cases with higher levels than that of controls: p.Pro439Thr, p.Pro461Ser, p.Met283Val, and p.His401Tyr, the last also with circulating polymers.
|
28229161 |
2017 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency.
|
28300866 |
2017 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SERPINC1 gene mutations in antithrombin deficiency.
|
28317092 |
2017 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A small deletion in SERPINC1 causes type I antithrombin deficiency by promoting endoplasmic reticulum stress.
|
27708219 |
2016 |
Antithrombin III Deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
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.
|
27098529 |
2016 |
Antithrombin III Deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort.
|
26748602 |
2016 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort.
|
26748602 |
2016 |
Antithrombin III Deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Heparanase Activates Antithrombin through the Binding to Its Heparin Binding Site.
|
27322195 |
2016 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most cases with antithrombin deficiency carried genetic defects affecting exons or flanking regions of SERPINC1.We aimed to identify regulatory mutations inSERPINC1 through sequencing the promoter, intron 1 and 2 of this gene in 23 patients with antithrombin deficiency but without known genetic defects.
|
27003919 |
2016 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients/methods We studied 30 patients with antithrombin deficiency but no defects in the gene encoding this key anticoagulant (SERPINC1).
|
27214821 |
2016 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrates that the search for large gene rearrangements in SERPINC1 can be a useful diagnostic approach, particularly in patients with type I antithrombin deficiency without mutations in SERPINC1.
|
25083771 |
2015 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Current evidence shows that some SERPINC1 mutations responsible for antithrombin deficiency often present a slightly decreased or normal activity and therefore could not be detected by functional tests.
|
25298121 |
2015 |
Antithrombin III Deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Discordant diagnoses obtained by different approaches in antithrombin mutation analysis.
|
24956267 |
2014 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency.
|
24196373 |
2014 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two SERPINC1 mutations causing type II antithrombin deficiency, Arg79Cys and Ser158Pro, were prevalent in the population group.
|
24162787 |
2014 |
Antithrombin III Deficiency
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study.
|
24684277 |
2014 |
Antithrombin III Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.
|
24162787 |
2014 |