|
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism.
|
31743498 |
2019 |
|
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Small and large PROS1 deletions but no other types of rearrangements detected in patients with protein S deficiency.
|
22627709 |
2012 |
|
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency.
|
16363235 |
2005 |
|
Activated Protein C Resistance
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, four families were diagnosed with the type I PS defect and five with congenital APC-R. No combined PS/FV Leiden or type II PS defect was found.
|
9518043 |
1997 |
|
Activated Protein C Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results support a role for platelet turnover, factor V, and aAPCR in the thrombosis of ET as well as the association between JAK2 V617F allele burden and either decreased free PS or increased TF and soluble markers of platelet and endothelial activation.
|
19105233 |
2009 |
|
Activated Protein C Resistance
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the presence of anti-protein S Abs was strongly associated with acquired APC-R (OR, 57.8; 95% CI, 8.53-391; p < 0.0001).
|
12428083 |
2002 |
|
Activated Protein C Resistance
|
0.400 |
Biomarker
|
disease |
BEFREE |
For congenital thrombophilia, tests evaluated comprised protein C (PC), protein S (PS), antithrombin (AT), and activated protein C resistance (APCR).
|
15706475 |
2005 |
|
Activated Protein C Resistance
|
0.400 |
Biomarker
|
disease |
BEFREE |
Since the presence of activated protein C (APC) resistance has been reported to interfere with PS activity assays resulting in an apparent type II PS deficiency, we retrospectively tested a pre-transplantation frozen plasma sample for APC resistance.
|
8845465 |
1996 |
|
Activated Protein C Resistance
|
0.400 |
Biomarker
|
disease |
BEFREE |
The lifetime risk for VTE was 4.4 for AT versus APCR, 2.6 for AT versus PS, 2.2 for AT versus PC, 1.9 for PC versus APCR, and 1.6 for PS versus APCR.
|
10195932 |
1999 |
|
Activated Protein C Resistance
|
0.400 |
Biomarker
|
disease |
BEFREE |
Subjects previously diagnosed as having functional PS deficiency should be re-investigated for APC resistance.
|
7803245 |
1994 |
|
Activated Protein C Resistance
|
0.400 |
Biomarker
|
disease |
BEFREE |
APC resistance (13.4 %) was detected to be most common in Indian RPL patients followed by PS (10.6 %), PC (9.8 %) and AT deficiency (4.31 %.).
|
25771983 |
2015 |
|
Activated Protein C Resistance
|
0.400 |
Biomarker
|
disease |
BEFREE |
Laboratory assays are currently available to diagnose and type hereditary thrombophilia due to deficiency or dysfunction of one of the anticoagulant factors antithrombin (AT), protein C (PC) and protein S (PS), and APC resistance without the need of DNA analysis.
|
9763348 |
1998 |
|
Diabetic Nephropathy
|
0.210 |
Biomarker
|
disease |
BEFREE |
However, plasma PS concentrations did not differ between patients with DN and healthy controls.
|
29511111 |
2018 |
|
Deep Vein Thrombosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Therefore, PS Tokushima (K196E) is an important genetic risk factor for DVT in the Japanese population.
|
20811787 |
2010 |
|
Deep Vein Thrombosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, a large deletion in PROS1 was shown to partly account for DVT with protein S deficiency.
|
17938802 |
2007 |
|
Deep Vein Thrombosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this study, a novel PROS1 mutation was identified at the last nucleotide in intron C (c.260-1G>A) in a patient suffering from recurrent deep vein thrombosis associated with PS deficiency.
|
20022358 |
2010 |
|
Deep Vein Thrombosis
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The proband suffered from recurrent deep vein thrombosis and showed reduced PS anticoagulant activity (31%), and total, free PS antigen and C4bBP levels in the normal range.
|
16409468 |
2006 |
|
Deep Vein Thrombosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Congenital PS deficiency has been identified in 1-7.5% of patients with DVT and in 0.03-0.13% general Caucasian population.
|
16026279 |
2005 |
|
Deep Vein Thrombosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
We are not aware of any previously published report on hereditary PS deficiency combined with CSVT and DVT occurring at high altitude.
|
18434709 |
2008 |
|
Deep Vein Thrombosis
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Low PS levels are a risk factor for the development of deep venous thrombosis.
|
16672217 |
2006 |
|
Deep Vein Thrombosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Rare mutations in PROC, PROS1 or SERPINC1 as well as common variants in F5, F2, F11 and SERPINC1 have been identified as risk factors for deep vein thrombosis (DVT).
|
26982741 |
2016 |
|
Deep Vein Thrombosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Sequence analysis of the PS gene showed a heterozygous G-to-A mutation at the first nucleotide of intron N. The patient's father, who had suffered from deep vein thrombosis and had reduced total and free PS antigen (59% and 28%, respectively) was a heterozygote.
|
12681974 |
2003 |
|
Deep Vein Thrombosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The PROS1 K196E mutation found in 15 Japanese DVT patients was the most prevalent.
|
18954896 |
2009 |
|
Deep Vein Thrombosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Single nucleotide polymorphisms (SNPs) of PROC and PROS1 may be closely associated with DVT in this thrombophilia family.
|
31295762 |
2019 |
|
Deep Vein Thrombosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The genomic analysis of a 70-year-old man with recurrent deep venous thrombosis having a protein S (PS)-deficient phenotype corresponding to both type III and type II evidenced two different mutations: a +5 g-->a mutation in the donor splice site of intron e (ivs e) and a ser 460 to Pro mutation.
|
9616157 |
1998 |