Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among all PSD members, a novel missense mutation 1063C→T in exon 10 of protein S alpha (PROS1) was identified, which encoded a substitution of arginine to cysteine at position 355 (R355C) in the first globular domain of laminin A of protein S. Wild-type PROS1 sequences were retained in non-PSD members.
|
21172841 |
2010 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, recent studies on the presence of large deletions in PROS1 have increased the number of PSD associated to PROS1 mutations.
|
17849042 |
2007 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have used a strategy of specific amplification of the coding regions and intron/exon boundaries of the active protein S gene (PROS1) and direct single-strand solid phase sequencing, to seek mutations in 35 individuals with phenotypic protein S deficiency.
|
8943854 |
1996 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We herein describe a Korean man with protein S deficiency from a novel nonsense mutation of PROS1.
|
25255242 |
2015 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency.
|
9375743 |
1997 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Twenty-eight index patients with protein S deficiency and a PROS1 gene defect were studied, together with 109 first-degree relatives.
|
10706858 |
2000 |
Protein S Deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
After her second miscarriage, laboratory diagnosis revealed that the woman was heterozygous for the factor V Leiden mutation and had a functional protein S deficiency as well as anti-protein S and anti-beta 2-glycoprotein I antibodies.
|
10091395 |
1999 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR.
|
8616098 |
1996 |
Protein S Deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our findings confirm the value of a cut-off FPS level for identifying subjects at increased VTE risk far below the lower limit of the normal range and suggest a place for PROS1 genotyping in PSD diagnosis strategy.
|
26466767 |
2016 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene.
|
10613647 |
1999 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These data agree with the notion that hereditary thrombophilia associated with protein S deficiency is indeed directly the result of a defect in the protein S gene.
|
2521801 |
1989 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Sixteen Danish unrelated thrombophilic families with plasma protein S deficiency of type 1 (or III) are currently under investigation in our laboratory for defects in the protein S alpha gene.
|
8865520 |
1996 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report.
|
29742732 |
2018 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Screening for large deletions in PROS1 might be warranted in PROS1 causative point mutation-negative DVT patients with protein S deficiency.
|
17938802 |
2007 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Antenatal diagnosis in a second pregnancy was initially performed by indirect restriction fragment length polymorphism (RFLP) tracking using a neutral dimorphism within the PROS gene and served to exclude severe protein S deficiency.
|
8611698 |
1996 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PROS1 were detected in 5 patients and 5 controls reinforcing the observation that inherited protein S deficiency is rare in the general population.
|
24014240 |
2013 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.
|
16868938 |
2006 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Absence of linkage between type III protein S deficiency and the PROS1 and C4BP genes in families carrying the protein S Heerlen allele.
|
9108398 |
1997 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency.
|
16885060 |
2006 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1.
|
15550022 |
2004 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to analyze the functional relevance on mRNA and protein expression of 12 natural PROS1 mutations associated with protein S deficiency.
|
18322254 |
2008 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency family.
|
27846449 |
2016 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have identified 2 PROS1 missense mutations in the exon that encodes the vitamin K-dependent Gla domain of protein S (Gly11Asp and Thr37Met) in kindred with phenotypic protein S deficiency and thrombosis.
|
12351389 |
2002 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although several case reports have described mesenteric venous thrombosis (MVT) in individuals with PSD, most have just reported decreases in the activity or concentration of protein S. We confirmed a nucleotide alteration of PROS1 associated with PSD.
|
21799399 |
2011 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort.
|
9657428 |
1998 |