Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Proinflammatory response induced by the ex vivo mutant cystatin C protein aggregates suggests that vascular inflammation plays an important role in hereditary cerebral hemorrhage with amyloidosis-Icelandic type.
|
23273574 |
2013 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
CTD_human |
A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.
|
18566660 |
2008 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
BEFREE |
To evaluate possible cytotoxicity in this condition solubilized cystatin C amyloid extracted from HCHWA-I leptomeninges was applied to cerebral smooth muscle cells in culture and was found to kill the cells.
|
17963746 |
2007 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
A variant of the cysteine protease inhibitor, cystatin C, forms amyloid deposited in the cerebral vasculature of patients with hereditary cerebral hemorrhage with amyloidosis, Icelandic type (HCHWA-I), leading to cerebral hemorrhages early in life.
|
16612983 |
2006 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Distinct properties of wild-type and the amyloidogenic human cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type.
|
11299325 |
2001 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
BEFREE |
The protein, a mutant of the cysteine protease inhibitor cystatin C, is the amyloid precursor protein in Hereditary Cerebral Hemorrhage with Amyloidosis--Icelandic type (HCHWA-I).
|
10524281 |
1999 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Instability of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type.
|
9565605 |
1998 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage.
|
7482672 |
1995 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
BEFREE |
Cystatin-C is an amyloidogenic protein causing hereditary cerebral haemorrhage with amyloidosis-Icelandic type (HCHWA-I).
|
8361651 |
1993 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis.
|
1352269 |
1992 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases.
|
2541223 |
1989 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases.
|
2541223 |
1989 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C.
|
3495457 |
1987 |
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Age-Related Macular Degeneration type 11
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Enrichment of glycopeptides for glycan structure and attachment site identification.
|
19838169 |
2009 |
Age-Related Macular Degeneration type 11
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
CST3 genotype associated with exudative age related macular degeneration.
|
11815350 |
2002 |
Age-Related Macular Degeneration type 11
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
The human cystatin C gene (CST3) is a member of the cystatin gene family which is localized on chromosome 20.
|
2764935 |
1989 |
Age-Related Macular Degeneration type 11
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Age-Related Macular Degeneration type 11
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cerebrovascular accident
|
0.500 |
AlteredExpression
|
group |
BEFREE |
This prospective observational study investigated the correlation between serum CysC levels and post-stroke cognitive dysfunction at 3 months.
|
31719258 |
2020 |
Cerebrovascular accident
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Taken together, these data unveil a new mechanism of the regulation of caveolin-1 expression by cystatin C in the maintenance of BBB integrity after ischemic brain injury and provide new clues for the identification of potential therapeutic strategies for stroke.
|
31603990 |
2019 |
Cerebrovascular accident
|
0.500 |
Biomarker
|
group |
BEFREE |
We have previously reported that Cystatin C (CysC) is a pivotal mediator in the neuroprotection induced by hyperbaric oxygen (HBO) preconditioning; however, the underlying mechanism and how CysC changes after stroke are not clear.
|
30519802 |
2019 |
Cerebrovascular accident
|
0.500 |
Biomarker
|
group |
BEFREE |
No associations were observed between CysC and stroke after additional adjustment for confounding variables.
|
30398035 |
2018 |
Cerebrovascular accident
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Increased expression levels of CysC were detected in the regenerating brain of mice after stroke.
|
29722001 |
2018 |
Cerebrovascular accident
|
0.500 |
Biomarker
|
group |
BEFREE |
Moreover, HBO-induced endogenous CysC elevation preserved lysosomal membrane integrity after stroke in wild-type rats but not in CysC siRNA infusion or CysC<sup>-</sup><sup>/-</sup> rats.
|
27999137 |
2017 |