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rs201680145
|
|
|
0.720 |
GeneticVariation |
BEFREE |
To describe the clinical, radiological, and neuropsychological features in an extended CADASIL family including members with either a homozygous or heterozygous NOTCH3 R1231C mutation.
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27423596 |
2016 |
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rs201680145
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We performed whole exome sequencing in a Turkish patient clinically diagnosed with Alzheimer's disease from a consanguineous family with a complex history of neurological and immunological disorders and identified a mutation in NOTCH3 (p.R1231C), previously described as causing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
|
22153900 |
2012 |
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rs201680145
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
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|
|
|
rs797045014
|
|
|
0.710 |
GeneticVariation |
BEFREE |
All living affected members carry a Notch3 mutation (Arg153Cys) previously reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
|
10802804 |
2000 |
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rs797045014
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
|
9388399 |
1997 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our study here identified G73A as a new mutation in NOTCH3 to cause CADASIL and revealed that the G73A mutation and two known mutants R75P and R133C decreased NOTCH3 protein turnover and induced cell death.
|
31720972 |
2020 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
He was diagnosed as CADASIL syndrome with Notch3 Arg133Cys mutation.
|
26261665 |
2015 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Significantly more CADASIL patients with the NOTCH3 Arg133Cys mutation had hyperintensity in the external capsule compared with CADASIL patients with the other mutations not including the NOTCH3 Arg75Pro mutation.
|
25980907 |
2015 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Members of a 5-generational Han Chinese family with CADASIL patients had an R133C mutation in the NOTCH3 gene but only individuals exposed to known vascular risk factors developed CADASIL.
|
22623959 |
2012 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We analyzed NOTCH3 expression and morphology of actin cytoskeleton in genetically genuine cultured human CADASIL vascular smooth muscle cells (VSMCs) (including a cell line homozygous for p.Arg133Cys mutation) derived from different organs, and in control VSMCs with short hairpin RNA (shRNA)-silenced NOTCH3.
|
22948298 |
2012 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have previously described a patient with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) caused by R133C mutation in NOTCH3 and with a concomitant myopathy caused by a G to A point mutation at base pair 5650 (5650G>A) in the gene encoding tRNA(Ala) in mitochondrial DNA (mtDNA).
|
17276737 |
2007 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Based on a structured questionnaire and medical records, the authors found that 12 of 25 mothers with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with the R133C NOTCH3 mutation had had neurologic symptoms in 17 of their 43 pregnancies, most commonly hemiparesthesia (76%), hemiparesis (36%), aphasia (65%), and visual disorders (47%).
|
15851739 |
2005 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The aim of this study was to characterize cognitive function in subjects with a C475T (R133C) mutation in the Notch3 gene, leading to CADASIL.
|
15143298 |
2004 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To verify whether true stenosis of the fibrotic white matter arteries is a key pathogenic event in CADASIL, we analyzed the thickness of walls (expressed as sclerotic index) and luminal diameters of penetrating arterioles in both grey matter and white matter of four CADASIL patients due to the C475T (R133C) mutation in the Notch3 gene and in 9 age-matched controls.
|
15605982 |
2004 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation.
|
11486103 |
2001 |
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rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
CADASIL was due to an R133C mutation in Notch3; in addition, we found a novel mutation 5650G>A in the tRNAAla gene in mtDNA.
|
11715067 |
2001 |
|
rs137852642
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using these primers, we determined the Notch3 gene in a Japanese family with CADASIL symptoms and found a missense mutation (Arg133Cys) in exon 4.
|
10609671 |
2000 |
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rs1555729604
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We determined that HS683 oligodendrocytes transfected with mutant NOTCH3(R90C), which is the hotspot mutation site-associated with CADASIL, exhibited aberrant NOTCH3 proteolytic processing.
|
28601945 |
2017 |
|
rs1555729604
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Four different mutations in exons 2 (Cys65Tyr), 3 (Gly89Cys and Arg90Cys), and 6 (Ala319Cys), which determine the CADASIL disease, were detected among all described patients.
|
23025651 |
2012 |
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rs1555729604
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We generated transgenic mice in which the SM22alpha promoter drove, in VSMCs, the expression of a full-length human Notch3 carrying the Arg90Cys mutation, a CADASIL archetypal mutation.
|
12507916 |
2003 |
|
rs1555729604
|
|
|
0.040 |
GeneticVariation |
BEFREE |
CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor.
|
11784372 |
2002 |
|
rs145069047
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our study here identified G73A as a new mutation in NOTCH3 to cause CADASIL and revealed that the G73A mutation and two known mutants R75P and R133C decreased NOTCH3 protein turnover and induced cell death.
|
31720972 |
2020 |
|
rs145069047
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We diagnosed CADASIL after detecting granular osmiophilic material in the walls of the endoneurial vessels morphologically and identifying a heterozygous NOTCH3 mutation p.Arg75Pro.
|
30170552 |
2018 |
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rs28933698
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Furthermore, we show that systemic administration of an agonist Notch3 antibody prevents mural cell loss and modifies plasma proteins associated with Notch3 activity, including endostatin/collagen 18α1 and Notch3 extracellular domain in mice with the C455R mutation, a CADASIL variant associated with Notch3 loss of function.
|
28698285 |
2017 |
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rs28933698
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Two-hundred day-old mice with the C455R CADASIL mutation in Notch 3 mice display robust VSMC loss in retinal arteries and had increased plasma levels of collagen18α1/endostatin (col18α1) and high-temperature requirement A serine peptidase 1 (HTRA1) and reduced levels of Notch 3 extracellular domain (N3ECD), compared to control wild type mice.
|
27174004 |
2016 |