|
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 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
Hsp47 is a collagen-specific molecular chaperone, whose activity has been implicated in liver fibrosis.
|
23587601 |
2013 |
|
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 |
|
Osteogenesis Imperfecta
|
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 |
|
Osteogenesis Imperfecta
|
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 |
|
Osteogenesis Imperfecta
|
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 |
|
Osteogenesis Imperfecta
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta.
|
19629171 |
2009 |
|
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 |
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 |
|
Osteogenesis Imperfecta
|
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 |
|
Osteogenesis Imperfecta
|
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 |
|
Osteogenesis Imperfecta
|
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 |
|
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 |
Six other genes, CRTAP, LEPRE1, FKBP10, PP1B, SP7/Osterix (OSX), and SERPINH1, are associated with autosomal recessive forms of OI.
|
21567925 |
2011 |
|
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 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 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
HSP47 knockdown by siRNAs significantly decreased cell viability in vitro and tumor volume in vivo; moreover, it reduced the microvessel density (MVD) by CD31 immunohistochemistry in vivo.
|
25758142 |
2016 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The enhanced targeting achieved with Ad5-Flag-LDS highlights a potential strategy for clinically applicable targeted gene therapy against HNSCC or any tumor type expressing Hsp47.
|
18176343 |
2008 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Fascin and HSP47 are novel tumor markers with potential diagnostic and therapeutic implications for pancreatic carcinoma.
|
12109856 |
2002 |