OSTEOGENESIS IMPERFECTA, TYPE X
|
0.910 |
GeneticVariation
|
disease |
BEFREE |
Mutation in serpin peptidase inhibitor clade H, member 1 (SERPINH1), which encodes heat shock protein 47 (HSP47), leads to rare autosomal recessive OI type X.
|
29520608 |
2018 |
OSTEOGENESIS IMPERFECTA, TYPE X
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
|
20188343 |
2010 |
OSTEOGENESIS IMPERFECTA, TYPE X
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
|
20188343 |
2010 |
OSTEOGENESIS IMPERFECTA, TYPE X
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
OSTEOGENESIS IMPERFECTA, TYPE X
|
0.910 |
Biomarker
|
disease |
CTD_human |
|
|
|
OSTEOGENESIS IMPERFECTA, TYPE X
|
0.910 |
Biomarker
|
disease |
MGD |
|
|
|
Osteogenesis imperfecta type III (disorder)
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2010 revision.
|
21438135 |
2011 |
Osteogenesis imperfecta type III (disorder)
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
|
20188343 |
2010 |
Preterm premature rupture of membranes (disorder)
|
0.500 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
|
20188343 |
2010 |
Preterm premature rupture of membranes (disorder)
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
|
|
|
Fibrosis, Liver
|
0.360 |
Biomarker
|
disease |
BEFREE |
Thereafter, according to the co-expression network analysis, the regulations of three core genes (Cenpp, Cyp2c55, Serpinh1) were verified that might be targets for treating liver fibrosis.
|
31047894 |
2019 |
Fibrosis, Liver
|
0.360 |
Biomarker
|
disease |
BEFREE |
The effect of LF on heat shock protein 47 (HSP47) has not yet been studied so this study was designed to investigate LF effect on HSP47 as a potential target for management of liver fibrosis and comparing it with silymarin (SM) in a thioacetamide (TAA)-induced liver fibrosis model.
|
30092114 |
2018 |
Fibrosis, Liver
|
0.360 |
Biomarker
|
disease |
BEFREE |
HSP47 knockdown ameliorates liver fibrosis by inhibiting collagen secretion, and inhibition of the interaction of HSP47 with procollagen also prevents collagen secretion.
|
29438711 |
2018 |
Fibrosis, Liver
|
0.360 |
AlteredExpression
|
disease |
BEFREE |
In addition, pPB-SNALP also exhibited an enhanced inhibitory effect on TAA-induced hepatic fibrosis mice with high gp46 mRNA expression in vivo.
|
29148802 |
2018 |
Fibrosis, Liver
|
0.360 |
Biomarker
|
disease |
BEFREE |
HSP47 might exert influence on liver fibrosis via the regulation of ETAR and ETBR.
|
28802097 |
2017 |
Fibrosis, Liver
|
0.360 |
Biomarker
|
disease |
CTD_human |
Precision-cut liver slices as a model for the early onset of liver fibrosis to test antifibrotic drugs.
|
24321339 |
2014 |
Fibrosis, Liver
|
0.360 |
AlteredExpression
|
disease |
BEFREE |
Hsp47 is a collagen-specific molecular chaperone, whose activity has been implicated in liver fibrosis.
|
23587601 |
2013 |
Osteogenesis Imperfecta
|
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 |
Osteogenesis Imperfecta
|
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 |
Osteogenesis Imperfecta
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Hsp47 are causally associated with osteogenesis imperfecta.
|
27838364 |
2017 |
Osteogenesis Imperfecta
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
There is minimal literature on the mechanism of action for variants in SERPINH1 resulting in osteogenesis imperfecta.
|
27677223 |
2016 |
Osteogenesis Imperfecta
|
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 |
Osteogenesis Imperfecta
|
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 |
Osteogenesis Imperfecta
|
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 |
Liver Cirrhosis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Precision-cut liver slices as a model for the early onset of liver fibrosis to test antifibrotic drugs.
|
24321339 |
2014 |