|
SERPINF1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The results of the present study demonstrate that patients may have mild symptoms of OI with a large fragment deletion in the SERPINF1 gene.
|
29512769 |
2018 |
|
SERPINF1
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Serum PEDF levels were extremely low in OI patients with SERPINF1 mutations (0.66±1.60μg/ml) than in OI patients with other pathogenic mutations (4.88±1.43-7.07±2.43μg/ml), carriers of one copy of SERPINF1 mutation (4.94±2.35μg/ml), and normal controls (7.29±2.31μg/m) (P<0.001).
|
29104038 |
2018 |
|
SERPINF1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Osteogenesis imperfecta (OI) type VI is an ultra-rare bone fragility disorder caused by recessive mutations in SERPINF1.
|
28689307 |
2017 |
|
SERPINF1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To improve our knowledge of the genetic mutation profile in OI we used single-stranded conformation polymorphism screening and automated sequencing to investigate the SERPINH1, FKBP10, and SERPINF1 genes, which are related to recessive OI, in 23 unrelated Brazilian patients.
|
27706701 |
2016 |
|
SERPINF1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Osteogenesis imperfecta (OI) type VI is a recessively inherited form of OI that is caused by mutations in SERPINF1, the gene coding for pigment-epithelium derived factor (PEDF).
|
26815784 |
2016 |
|
SERPINF1
|
0.600 |
Biomarker
|
disease |
BEFREE |
We identified a 25-year-old woman with severe OI whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but whose serum PEDF level was in the normal range.
|
24519609 |
2014 |
|
SERPINF1
|
0.600 |
Biomarker
|
disease |
BEFREE |
Bone-restricted interferon-induced transmembrane (IFITM)-like protein (BRIL) and pigment epithelium-derived factor (PEDF) defects cause types V and VI osteogenesis imperfecta via defective bone mineralization, while defects in cartilage-associated protein (CRTAP), prolyl 3-hydroxylase 1 (P3H1), and cyclophilin B (CYPB) cause types VII-IX osteogenesis imperfecta via defective collagen post-translational modification.
|
25007323 |
2014 |
|
SERPINF1
|
0.600 |
Biomarker
|
disease |
MGD |
A mouse model for human osteogenesis imperfecta type VI.
|
23413146 |
2013 |
|
SERPINF1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A form of OI with a mineralization defect is caused by mutations in SERPINF1, whose protein product, PEDF, is a well-known antiangiogenesis factor.
|
23771926 |
2013 |
|
SERPINF1
|
0.600 |
Biomarker
|
disease |
BEFREE |
Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen.
|
22113968 |
2012 |
|
SERPINF1
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
In patients with OI types I, III, and IV, serum creatinine, body mass index z-score, and OI severity were significant predictors of PEDF serum levels.
|
22669302 |
2012 |
|
SERPINF1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
All four individuals with SERPINF1 mutations have severe OI.
|
21353196 |
2011 |
|
SERPINF1
|
0.600 |
Biomarker
|
disease |
BEFREE |
Hence, loss of pigment epithelium-derived factor function constitutes a novel mechanism for OI and shows its involvement in bone mineralization.
|
21826736 |
2011 |
|
SERPINF1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
|
21353196 |
2011 |