SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
SERPINH1 mutations have been associated with one of the rarest forms of recessively inherited osteogenesis imperfecta (OI) with a moderate to severe phenotype.
|
31179625 |
2019 |
SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We reported novel compound heterozygous mutations in SERPINH1 in a Chinese OI patient for the first time, which expanded the spectrum of phenotype and genotype of extremely rare OI type X.
|
29520608 |
2018 |
SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Hsp47 are causally associated with osteogenesis imperfecta.
|
27838364 |
2017 |
SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
There is minimal literature on the mechanism of action for variants in SERPINH1 resulting in osteogenesis imperfecta.
|
27677223 |
2016 |
SERPINH1
|
0.300 |
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 |
SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Although the chemical chaperone 4-PBA partially restores the solubility of the Hsp47 OI mutants, collagen-binding activity of Hsp47 was not improved.
|
26692483 |
2016 |
SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We have identified a new OI mutation in SERPINH1 that results in destabilization and mislocalization of HSP47 and secondarily has similar effects on FKBP65.
|
25510505 |
2015 |
SERPINH1
|
0.300 |
Biomarker
|
disease |
BEFREE |
Heat shock protein 47 (HSP47) and FK506-binding protein-65 (FKBP65) defects cause types X and XI osteogenesis imperfecta via aberrant collagen crosslinking, folding, and chaperoning, while defects in SP7 transcription factor, wingless-type MMTV integration site family member 1 (WNT1), trimeric intracellular cation channel type b (TRIC-B), and old astrocyte specifically induced substance (OASIS) disrupt osteoblast development.
|
25007323 |
2014 |
SERPINH1
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, a downregulation of HSP47, a specific collagen chaperone known to be upregulated in some OI cases, was detected.
|
24022296 |
2014 |
SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Dominant inheritance of osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2, the genes that encode type I collagen, and CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, and SP7 mutations were recently detected in a minority of patients with autosomal recessive OI.
|
21667357 |
2012 |
SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Since then, an additional putative collagen chaperone complex, composed of FKBP10 (also known as FKBP65) and SERPINH1 (also known as HSP47), also has been shown to be mutated in recessive OI.
|
20839288 |
2011 |
SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Six other genes, CRTAP, LEPRE1, FKBP10, PP1B, SP7/Osterix (OSX), and SERPINH1, are associated with autosomal recessive forms of OI.
|
21567925 |
2011 |
SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Identification of this mutation in SERPINH1 gives further insight into critical steps of the collagen biosynthetic pathway and the molecular pathogenesis of OI.
|
20188343 |
2010 |
SERPINH1
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta.
|
19629171 |
2009 |
SERPINH1
|
0.300 |
Biomarker
|
disease |
BEFREE |
In normal fibroblasts, 2 h after the addition of ascorbate, most of the procollagen had disappeared from the cells, while in OI fibroblasts, abnormal procollagen molecules and HSP 47 were still retained in the ER.
|
9602714 |
1998 |
SERPINH1
|
0.300 |
Biomarker
|
disease |
MGD |
|
|
|