rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
24000151
2013
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies.
16009764
2005
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
15818833
2005
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.
15364702
2004
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Detection of the founder effect in Finnish CADASIL families.
15378071
2004
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Gene symbol: NOTCH3. Disease: CADASIL.
15300988
2004
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk.
15350543
2004
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.
12589106
2003
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis.
12810003
2003
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL.
11810186
2002
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
12136071
2002
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia.
12146805
2002
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.
11559313
2001
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.
11102981
2000
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains.
10854111
2000
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.
10802807
2000
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree.
11058919
2000
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Quantitative MRI in CADASIL: correlation with disability and cognitive performance.
10227618
1999
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.
10371548
1999
rs1555729510
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
0.700
GeneticVariation
UNIPROT
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
9388399
1997