|
Osteogenesis Imperfecta, Type VI
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Serpinf1 gene which encodes pigment epithelium-derived factor (PEDF) lead to osteogenesis imperfecta type VI whose hallmark is defective matrix mineralization.
|
30607618 |
2019 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Patients with OI type VI (due to SERPINF1 mutations) scored similar to OI type V for "centreline."
|
29388328 |
2018 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
Biomarker
|
disease |
BEFREE |
SERPINF1 mutations caused deficiency of pigment epithelium-derived factor (PEDF) and would lead to osteogenesis imperfecta (OI) type VI.
|
29104038 |
2018 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Serpinf1 gene which encodes pigment epithelium derived factor (PEDF) lead to osteogenesis imperfecta type VI whose hallmark is defective mineralization.
|
30076958 |
2018 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
We identified five novel mutations in SERPINF1 and confirmed the diagnostic value of serum PEDF level for the first time in Chinese patients with the extremely rare OI type VI.
|
27796462 |
2017 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe long-term outcomes in OI type VI and compare the clinical phenotypes caused by different types of SERPINF1 mutations.
|
28689307 |
2017 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
Biomarker
|
disease |
BEFREE |
We tested whether restoration of circulating PEDF in the blood could correct the phenotype of OI type VI in the context of protein replacement.
|
26693895 |
2016 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on two apparently unrelated children with OI type VI who had the same unusual homozygous variant in intron 6 of SERPINF1 (c.787-10C>G).
|
26815784 |
2016 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.
|
25868797 |
2015 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
Biomarker
|
disease |
BEFREE |
SERPINF1 sequences were normal despite bone histomorphometry consistent with type VI OI and elevated childhood serum alkaline phosphatase.
|
24519609 |
2014 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
Biomarker
|
disease |
BEFREE |
Recently, SERPINF1 has been reported as another causative gene in OI type VI.
|
23853499 |
2013 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
Biomarker
|
disease |
MGD |
The findings in this mouse model mimic the principal structural and biochemical features of bone observed in humans with OI type VI and consequently provide a useful model with which to further investigate the role of PEDF in this bone disorder.
|
23413146 |
2013 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
Biomarker
|
disease |
BEFREE |
The findings in this mouse model mimic the principal structural and biochemical features of bone observed in humans with OI type VI and consequently provide a useful model with which to further investigate the role of PEDF in this bone disorder.
|
23413146 |
2013 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
Biomarker
|
disease |
BEFREE |
Determining PEDF serum concentration helps to diagnose OI type VI but does not seem to provide information on the activity of bone turnover or mineralization.
|
22669302 |
2012 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We identified for the first time an in-frame duplication in SERPINF1 that is responsible for the OI type VI phenotype in this patient.
|
22528245 |
2012 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
|
21353196 |
2011 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
Biomarker
|
disease |
BEFREE |
We describe loss of function mutations in serpin peptidase inhibitor, clade F, member 1 (SERPINF1) in two affected members of this family and in an additional unrelated patient with OI type VI.
|
21826736 |
2011 |
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Osteogenesis Imperfecta, Type VI
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Osteogenesis Imperfecta
|
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 |
|
Osteogenesis Imperfecta
|
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 |
|
Osteogenesis Imperfecta
|
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 |
|
Osteogenesis Imperfecta
|
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 |
|
Osteogenesis Imperfecta
|
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 |
|
Osteogenesis Imperfecta
|
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 |