|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a heritable, rare small vessel disease, which is caused by HTRA1 mutations and mostly reported Japanese and Chinese population.
|
31494012 |
2019 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified two families harboring HTRA1 (p.S284 N and p.V216 M) heterozygous mutations with symptoms that mimicked common symptoms of CARASIL.
|
30031255 |
2018 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a hereditary cerebral small vessel disease (CSVD) caused by homozygous or compound heterozygous mutations of the high temperature requirement A serine peptidase 1 gene (HTRA1).
|
29797751 |
2018 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
HtrA1 is a serine protease that has been linked to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, a small blood vessel disease in humans.
|
29483282 |
2018 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations of human HTRA1 cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).
|
29768431 |
2018 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from Americas.
|
28628911 |
2017 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.
|
27164673 |
2016 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These mutant HTRA1s showed markedly decreased protease activities and inhibited wild-type HTRA1 activity, whereas 2 of 3 mutant HTRA1s reported in cerebral autosomal-recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) (A252T and V297M) did not inhibit wild-type HTRA1 activity.
|
27164673 |
2016 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.
|
25772074 |
2015 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
|
26063658 |
2015 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis.
|
25770224 |
2015 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
|
26063658 |
2015 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
A frameshift mutation in the HTRA1 gene detected in a CARASIL pedigree resulted in reduced HTRA1 protein and increased TGF-β1 expression, which may cause severe CARASIL and peripheral small arterial disease.
|
25772074 |
2015 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare form of nonhypertensive cerebral small-vessel disease caused by mutations in the HTRA1 gene.
|
25712943 |
2015 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.
|
25957642 |
2015 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation in the HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome.
|
24535794 |
2014 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hence, our data suggest an attenuation of TGF-β signaling caused by a lack of HtrA1-mediated LTBP-1 processing as mechanism underlying CARASIL pathogenesis.
|
25369932 |
2014 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Two novel HTRA1 mutations in a European CARASIL patient.
|
24500651 |
2014 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Discovery of a novel missense mutation (c.854C>T) associated with CARASIL expands the known CARASIL-related mutations in HTRA1.
|
23963851 |
2013 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The efficacy of SMG-8 knockdown to improve the mutant phenotype was confirmed using another cell line, from a cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy patient who carries a PTC-containing mutation in HtrA serine peptidase 1.
|
23983263 |
2013 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.
|
22900900 |
2012 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.
|
22900900 |
2012 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel mutation in the HTRA1 gene causes CARASIL without alopecia.
|
21482952 |
2011 |
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
CARASIL-associated mutant HTRA1 exhibited decreased protease activity and failed to repress transforming growth factor-β family signaling, indicating that the increased signaling causes arteriopathy in CARASIL.
|
21215656 |
2011 |